A literature search at Indiana University, Bloomington, Indiana
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Record 1 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06 TITLE: Persistent hyperplastic primary vitreous associated with septo-optic-pituitary dysplasia and schizencephaly.
AUTHOR(S): Katsuya-Lauer-A; Balish-MJ; Palmer-EA
ADDRESS OF AUTHOR: Casey Eye Institute, Oregon Health Sciences Center, Portland 97201-4197, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Ophthalmol. 2000 Apr; 118(4): 578-80
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9950
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adolescence-; Corticotropin-deficiency; Fundus-Oculi; Hydrocortisone-therapeutic-use; Hyperplasia-; Infant,-Newborn; Levothyroxine-therapeutic-use; Magnetic-Resonance-Imaging; Thyrotropin-deficiency; Vitreous-Body-blood-supply
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Brain-abnormalities; *Eye-Abnormalities-diagnosis; *Optic-Nerve-abnormalities; *Pituitary-Gland,-Posterior-abnormalities; *Septum-Pellucidum-abnormalities; *Vitreous-Body-pathology
CHECKTAGS: Case-Report; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 50-23-7; 51-48-9; 9002-60-2; 9002-71-5
NAME OF SUBSTANCE: Hydrocortisone; Levothyroxine; Corticotropin; Thyrotropin
MEDLINE ACCESSION NUMBER: 20227216
UPDATE CODE: 200006
SUBSET: AIM
Record 2 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06
TITLE: [Type II schizencephaly: magnetic resonance imaging (letter)]
ORIGINAL TITLE: Esquisencefalia tipo II: imagen en resonancia magnetica.
AUTHOR(S): Lopez-Gonzalez-FJ; Aldrey-JM; Rodriguez-Mendez-ML; Rivas-P; de-la-Fuente-R; Macias-M
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Neurol. 1999 Mar 16-31; 28(6): 641-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0210-0010
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
MINOR MESH HEADINGS: Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Brain-pathology; *Schizophrenia-diagnosis
CHECKTAGS: Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 20178732
UPDATE CODE: 200006
Record 3 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06
TITLE: Correlation of EEG, neuroimaging and histopathology in an epilepsy patient with diffuse cortical dysplasia.
AUTHOR(S): Hashizume-K; Kiriyama-K; Kunimoto-M; Maeda-T; Tanaka-T; Miyamoto-A; Miyokawa-N; Fukuhara-M
ADDRESS OF AUTHOR: Department of Neurosurgery, Asahikawa Medical College, 4-5 Nishikagura, Asahikwa, 078-8510 Japan. kmark113@asahikawa-med.ac.jp
SOURCE (BIBLIOGRAPHIC CITATION): Childs-Nerv-Syst. 2000 Feb; 16(2): 75-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0256-7040
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: The correlation between scalp EEG, intraoperative electrocorticogram, neuroimaging and histopathology was examined in an epileptic child with diffuse cortical dysplasia. The 6-year-old girl with moderate mental retardation had suffered from intractable complex partial and generalized epilepsies since the age of 2 years. MR images demonstrated unilateral large macrogyria/polymicrogyria and schizencephaly in the right occipital lobe. The epileptic focus was detected on the macrogyria by EEG and single photon emission tomography. However, the intraoperative electrocorticogram showed frequent spikes from the polymicrogyria and no paroxysmal activity in the macrogyria. The polymicrogyria and the macrogyric lesion were resected, using an image-guided system. The histological findings revealed that the macrogyria was covered with and separated by glial bundles. It has been reported that epileptogenicity is produced from abnormal neurons and their arrangement in cortical dysplasia; in this case, however, the major dysplastic lesion had no epileptogenicity; rather the focus might be in the polymicrogyria around the lesion.
MINOR MESH HEADINGS: Cerebral-Cortex-pathology; Cerebral-Cortex-physiopathology; Child-; Epilepsy,-Complex-Partial-pathology; Epilepsy,-Complex-Partial-physiopathology; Epilepsy,-Generalized-pathology; Epilepsy,-Generalized-physiopathology; Evoked-Potentials-physiology; Gliosis-congenital; Gliosis-pathology; Gliosis-physiopathology; Image-Processing,-Computer-Assisted; Mental-Retardation-diagnosis; Mental-Retardation-pathology; Mental-Retardation-physiopathology; Neuroglia-pathology
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Electroencephalography-; *Epilepsy,-Complex-Partial-congenital; *Epilepsy,-Generalized-congenital; *Magnetic-Resonance-Imaging
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20129839
UPDATE CODE: 200006
Record 4 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06
TITLE: [Clinical manifestations of schizencephaly and its sonographic diagnosis]
ORIGINAL TITLE: Klinische Manifestationen der Schizenzephalie und ihre sonographische Diagnostik.
AUTHOR(S): Thiel-M; Feldkamp-A; Rech-A
ADDRESS OF AUTHOR: Abteilung fur Kinderheilkunde, Klinikums Duisburg, Wedaukliniken.
SOURCE (BIBLIOGRAPHIC CITATION): Ultraschall-Med. 1999 Dec; 20(6): 263-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0172-4614
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Schizencephaly is defined as a cerebral malformation of the CNS with various clefts of the cerebral cortex. We report on two patients referred to our department with neurological abnormalities. In both cases the cranial sonography already provided for the clinical picture of schizencephaly. A MR-scan confirmed the diagnosis. In addition one of the patients proved to have a migrational disorder. The analysis of these cases and the relevant literature point out how difficult the etiologic differentiation is and, on the other hand, how various the manifestations of the malformation can be. The important role of cranial sonography as a screening method is shown.
MINOR MESH HEADINGS: Abnormalities-diagnosis; Brain-pathology; Cerebral-Cortex-pathology; Cerebral-Cortex-ultrasonography; English-Abstract; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Abnormalities-ultrasonography; *Brain-abnormalities; *Cerebral-Cortex-abnormalities; *Echoencephalography-
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20134968
UPDATE CODE: 200005
Record 5 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06
TITLE: [Schizencephaly: clinical and MRI features]
AUTHOR(S): Morioka-T; Nishio-S; Hisada-K; Mihara-F; Ishioka-H; Nakamura-Y; Nagamatsu-T; Fukui-M
ADDRESS OF AUTHOR: Department of Neurosurgery, Graduate School of Medicine, Kyushu University, Fukuoka, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): No-To-Shinkei. 1999 Nov; 51(11): 938-44
INTERNATIONAL STANDARD SERIAL NUMBER: 0006-8969
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: We report the clinical and neuroimaging features of 4 cases with schizencephaly. Case 1 had bilateral schizencephaly with open-lip on the right and closed-lip on the left. Case 2 had unilateral schizencephaly with closed-lip on the left and subcortical heterotopia on the right. Case 3 had unilateral schizencephaly with closed-lip on the left. Case 4 had bilateral closed-lip schizencephaly. Although all cases except for Case 3 had bilateral lesions, neurodevelopmental outcome was generally good; Case 1 and 3 had mild hemiparesis. All patient have epilepsy which are well-controlled with antiepileptic drugs. Thus, the clinical presentation of schizencephaly, even if bilateral lesions, are quite variable.
MINOR MESH HEADINGS: Abnormalities-diagnosis; Adolescence-; Adult-; Aged-; English-Abstract; Middle-Age; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Magnetic-Resonance-Imaging
CHECKTAGS: English-Abstract; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20052856
UPDATE CODE: 200003
Record 6 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06
TITLE: Prenatal diagnosis and follow-up of 14 cases of unilateral ventriculomegaly.
AUTHOR(S): Senat-MV; Bernard-JP; Schwarzler-P; Britten-J; Ville-Y
ADDRESS OF AUTHOR: Fetal Medicine Unit, St. George's Hospital Medical School, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Ultrasound-Obstet-Gynecol. 1999 Nov; 14(5): 327-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0960-7692
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: OBJECTIVE: To report prospectively the prenatal diagnosis, management and outcome of 14 cases of unilateral ventriculomegaly. METHODS: Fourteen fetuses were diagnosed as having one ventricle of > or = 10 mm, as measured at the level of the atrium. RESULTS: In ten cases, the scan showed mild unilateral ventriculomegaly with an atrium width between 11 and 13 mm and this remained stable up to term. Eight of these fetuses had a magnetic resonance imaging scan in utero between 32 and 34 weeks of gestation which confirmed the diagnosis of mild ventriculomegaly without other brain abnormalities and showed a normal cortical mantle. No obvious cause was found and the outcome was normal in all cases. In four cases, the unilateral ventriculomegaly evolved rapidly with an atrium width up to 20-25 mm. Causes included atresia of the foramen of Monro, toxoplasmosis, brain atrophy and Weaver syndrome. Three underwent termination of pregnancy and the postmortem examination confirmed the diagnosis. The baby with brain atrophy and schizencephaly had a ventriculoperitoneal shunt placed at 1 month of age and has severe developmental delay at 9 months. CONCLUSION: The prognosis of unilateral ventriculomegaly is uncertain. Examination of both ventricles during the anomaly scan should be performed, as should ultrasound follow-up of these cases up to the end of the third trimester. Fetuses with an isolated, mild, stable unilateral ventriculomegaly seem to have a favourable neurological outcome. However, fetuses with rapidly evolving unilateral ventriculomegaly or cases associated with other brain abnormalities may have a poor neurological outcome.
MINOR MESH HEADINGS: Adult-; Gestational-Age; Hydrocephalus-ultrasonography; Pregnancy-; Pregnancy-Outcome; Prognosis-; Prospective-Studies
MAJOR MeSH HEADINGS: *Lateral-Ventricles-abnormalities; *Lateral-Ventricles-ultrasonography; *Ultrasonography,-Prenatal
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 20089118
UPDATE CODE: 200003
Record 7 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06
TITLE: Congenital hepatoblastoma and schizencephaly in an infant with Beckwith-Wiedemann syndrome.
AUTHOR(S): Worth-LL; Slopis-JM; Herzog-CE
ADDRESS OF AUTHOR: Department of Pediatrics, University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Med-Pediatr-Oncol. 1999 Dec; 33(6): 591-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0098-1532
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Beckwith-Wiedemann-Syndrome-pathology; Brain-pathology; Hepatoblastoma-congenital; Hepatoblastoma-surgery; Hepatoblastoma-therapy; Infant,-Newborn; Liver-Neoplasms-congenital; Liver-Neoplasms-surgery; Liver-Neoplasms-therapy; Magnetic-Resonance-Imaging; Seizures-complications
MAJOR MeSH HEADINGS: *Beckwith-Wiedemann-Syndrome-complications; *Brain-abnormalities; *Hepatoblastoma-complications; *Liver-Neoplasms-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20042429
UPDATE CODE: 200003
Record 8 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06
TITLE: [Clinical picture of neuroblast migratory disorders]
ORIGINAL TITLE: Cuadro clinico de los trastornos de la migracion neuroblastica.
AUTHOR(S): Flores-Dinorin-L
ADDRESS OF AUTHOR: Servicio de Neurologia Pediatrica, Instituto Nacional de Pediatria, Mexico DF, Mexico.
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Neurol. 1999 May 16-31; 28(10): 990-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0210-0010
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: INTRODUCTION: Disturbances of neuroblast migration are prominent among the numerous causes of symptomatic epilepsy and of abnormal neurological development in children. DEVELOPMENT: Although their clinical manifestations are generally nonspecific with considerable overlap of symptoms and signs amongst the various disorders, the clinical picture of migratory disorders is continuously being redefined with greater precision and, in some cases, disorders of migration may be grouped into syndromes that are more easily diagnosed during life, in large part because of major advances in recent years in the technology of neuroimaging and in molecular genetics. It is therefore possible to study these patients in greater detail and over longer periods when detected early in life. CONCLUSIONS: I have reviewed the clinical manifestations of some of the defined disorders of neuroblast migration: lissencephaly-pachygyria types I and II, pachygyria, schizencephaly, polymicrogyria, special location heterotopia, for example, periventricular heterotopia and subcortical band heterotopia or 'double cortex' syndrome, the latter closely related to isolated lissencephaly type I.
MINOR MESH HEADINGS: Brain-Diseases-genetics; Cerebral-Cortex-abnormalities; Cerebral-Ventricles; Child-; Child,-Preschool; Choristoma-pathology; Chromosome-Abnormalities-genetics; Chromosomes,-Human,-Pair-17-genetics; English-Abstract; Epilepsies,-Partial-diagnosis; Infant-; Magnetic-Resonance-Imaging; Syndrome-; X-Chromosome-genetics
MAJOR MeSH HEADINGS: *Brain-Diseases-complications; *Brain-Diseases-pathology; *Cell-Movement-physiology; *Epilepsies,-Partial-etiology; *Neurons-pathology
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 99344727
UPDATE CODE: 200003
Record 9 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06
TITLE: Functional imaging in schizencephaly using [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) and single photon emission computed tomography with technetium-99m-hexamethyl-propyleneamine oxime (HMPAO-SPECT).
AUTHOR(S): Morioka-T; Nishio-S; Sasaki-M; Yoshida-T; Kuwabara-Y; Nagamatsu-T; Fukui-M
ADDRESS OF AUTHOR: Department of Neurosurgery, Neurological Institute, Faculty of Medicine, Kyusyu University, Fukuoka, Japan. takato@ns.med.kyushu-u.as.jp
SOURCE (BIBLIOGRAPHIC CITATION): Neurosurg-Rev. 1999 Oct; 22(2-3): 99-101
INTERNATIONAL STANDARD SERIAL NUMBER: 0344-5607
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We analyzed interictal [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FGD-PET) and single photon emission computed tomography with technetium-99m-hexamethyl-propyleneamine oxime (HMPAO-SPECT) in a 23-year-old female with schizencephaly. She had epilepsy and mild left hemiparesis, but was otherwise developmentally normal. We found the glucose metabolism and perfusion of the wall of the schizencephalic cleft to be identical to those of normal cerebral cortex. The wall of the transcerebral clefts, which were observed to be lined by abnormally organized gray matter as a result of a migration disorder, demonstrated gray matter metabolic activity and perfusion. FDG-PET and HMPAO-SPECT were thus found to be a useful complement to magnetic resonance imaging for evaluating schizencephaly.
MINOR MESH HEADINGS: Adult-; Brain-radionuclide-imaging; Cerebral-Cortex; Cerebral-Ventricles-abnormalities; Cerebral-Ventricles-radionuclide-imaging; Choristoma-genetics; Choristoma-radionuclide-imaging; Dominance,-Cerebral-physiology; Epilepsy,-Generalized-radionuclide-imaging; Fludeoxyglucose-F-18-diagnostic-use; Image-Processing,-Computer-Assisted; Paresis-radionuclide-imaging; Technetium-Tc-99m-Exametazime-diagnostic-use
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Epilepsy,-Generalized-genetics; *Paresis-genetics; *Tomography,-Emission-Computed; *Tomography,-Emission-Computed,-Single-Photon
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 63503-12-8
NAME OF SUBSTANCE: Technetium-Tc-99m-Exametazime; Fludeoxyglucose-F-18
MEDLINE ACCESSION NUMBER: 20012497
UPDATE CODE: 200002
Record 10 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06
TITLE: Experimental schizencephaly induced by Kilham strain of mumps virus: pathogenesis of cleft formation.
AUTHOR(S): Takano-T; Takikita-S; Shimada-M
ADDRESS OF AUTHOR: Department of Pediatrics, Shiga University of Medical Sciences, Seta, Otsu, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Neuroreport. 1999 Oct 19; 10(15): 3149-54
INTERNATIONAL STANDARD SERIAL NUMBER: 0959-4965
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The pathogenesis of cleft formation in schizencephaly was analyzed by examining the brain lesions produced by the infection of the Kilham strain of mumps virus during the period of neuronal migration in hamsters. Mumps virus antigen was detected in the neuroepithelial cells within the ventricular zone, the choroid plexus in the lateral ventricles, and vimentin-immunoreactive radial glial fibers. The main pathological findings were cerebral hemorrhage, neuronal necrosis, microsulci on the cerebral cortex and cleft formation through the entire thickness of the cerebral mantle. The clefts seen in these experiments were lined by embryonal elements such as neuroepithelial cells and germinal cells. Based on these results and the original definition by Yakovlev and Wadsworth, the following two conclusions were suggested. First, the mumps virus localized to the neuroepithelial cells within the ventricular zone and the radial glial fibers may induce a destructive process and subsequent anomalous neuronal migration, resulting in cleft formation. Second, the formation of the ventricular cleft extending to the pial surface, which should be complete before the cortical infolding appears, is necessary in order to produce the characteristic cleft in schizencephaly which is associated with the pial-ependymal seam.
MINOR MESH HEADINGS: Cerebral-Cortex-pathology; Hamsters-; Mesocricetus-; Mumps-Virus-immunology; Nervous-System-Malformations-pathology; Neural-Tube-Defects-pathology; Neurons-virology; Vimentin-analysis
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Cerebral-Cortex-virology; *Encephalitis,-Viral-physiopathology; *Mumps-Virus-pathogenicity; *Nervous-System-Malformations-etiology; *Nervous-System-Malformations-physiopathology; *Neural-Tube-Defects-etiology; *Neural-Tube-Defects-physiopathology
CHECKTAGS: Animal
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Vimentin
MEDLINE ACCESSION NUMBER: 20039708
UPDATE CODE: 200002
Record 11 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Clinical and imaging features of cortical malformations in childhood.
AUTHOR(S): Leventer-RJ; Phelan-EM; Coleman-LT; Kean-MJ; Jackson-GD; Harvey-AS
ADDRESS OF AUTHOR: Department of Neurology, Royal Children's Hospital, Melbourne, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Neurology. 1999 Sep 11; 53(4): 715-22
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: To determine the types, relative frequencies, clinical features, and MRI characteristics of malformations of cortical development (MCD) occurring in a cohort of children referred to a tertiary pediatric center. METHODS: Original MR images were reviewed by two investigators, who were blinded to clinical details, to determine the elemental imaging features of each malformation and to label these malformations according to an existing system of classification. Clinical information was collected by a review of hospital records. RESULTS: A total of 109 children with MCD were identified. There were 58 boys and 51 girls, age 8 days to 18 years at initial imaging (mean age, 5 years). Seizures were present in 75%, developmental delay or intellectual disability in 68%, abnormal neurologic findings in 48%, and congenital anomalies apart from the CNS malformation in 18%. The main malformations identified were heterotopic gray matter (19%), cortical tubers (17%), focal cortical dysplasia (16%), polymicrogyria (16%), agyria/pachygyria (15%), schizencephaly/cleft (5%), transmantle dysplasia (5%), and hemimegalencephaly (4%). Eight patients had features of more than one malformation. Most lesions were multilobar (47%), with the frontal lobe being the most common lobe involved (78%). A total of 68% of patients had other cerebral malformations including ventricular dilatation or dysmorphism (46%) and abnormalities of the corpus callosum (29%). CONCLUSIONS: This study illustrates the spectrum of MCD in a pediatric cohort and highlights some of the differences between pediatric and adult patients. Patients with MCD presenting in childhood have a wider spectrum of malformations and more varied, often more severe, clinical manifestations. The lesions are frequently multifocal or generalized and many are associated with noncortical developmental brain anomalies.
MINOR MESH HEADINGS: Child,-Preschool; Epilepsy-pathology; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-pathology; *Brain-Diseases-pathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99417156
UPDATE CODE: 200001
SUBSET: AIM
Record 12 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Schizencephaly: antenatal detection using ultrasound.
AUTHOR(S): Ceccherini-AF; Twining-P; Variend-S
ADDRESS OF AUTHOR: Department of Radiology, QMC Nottingham, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Radiol. 1999 Sep; 54(9): 620-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9260
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Adult-; Cerebral-Ventricles-ultrasonography; Echoencephalography-; Pregnancy-
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Ultrasonography,-Prenatal
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99433818
UPDATE CODE: 200001
Record 13 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Adult-onset neurologic dysfunction associated with cortical malformations.
AUTHOR(S): Cho-WH; Seidenwurm-D; Barkovich-AJ
ADDRESS OF AUTHOR: Department of Radiology, University of California, San Francisco, USA.
SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1999 Jun-Jul; 20(6): 1037-43
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND AND PURPOSE: Malformations of cerebral cortical development are common anomalies of the brain, typically causing developmental delay or seizures that are classically thought to begin in childhood. We present clinical and MR imaging data of 16 patients with cortical malformations in whom evidence of neurologic dysfunction was first noted in adulthood, and attempt to determine whether these malformations had any differentiating features from those presenting in childhood. METHODS: Imaging studies and clinical records of 16 patients with adult-onset neurologic dysfunction were reviewed retrospectively. The patients ranged in age from 17 to 64 years (mean age, 35 years) at the time of imaging. Imaging findings were correlated with seizure history. RESULTS: Fourteen patients had subependymal heterotopia (seven women, seven men), and two patients had closed-lip schizencephalies. Eleven patients had epilepsy, with age of onset ranging from 14 to 45 years (mean age, 22 years); four of them were successfully controlled by medication. The remaining five patients had no seizure disorder. All patients, except one, had normal intelligence. The bilaterality or multiplicity of location of heterotopias was not associated with the presence or absence of seizures, seizure frequency, or electroencephalographic results. CONCLUSION: Subependymal heterotopia and small closed-lip schizencephaly may have minor clinical manifestations that are not evident until adulthood, or may, occasionally, never cause neurologic signs or symptoms whatsoever.
MINOR MESH HEADINGS: Adolescence-; Adult-; Age-of-Onset; Brain-Diseases-complications; Brain-Diseases-diagnosis; Cerebral-Cortex-pathology; Choristoma-complications; Choristoma-diagnosis; Electroencephalography-; Ependyma-pathology; Intelligence-physiology; Magnetic-Resonance-Imaging; Middle-Age; Retrospective-Studies; Seizures-etiology
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Nervous-System-Diseases-epidemiology; *Nervous-System-Diseases-etiology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99372612
UPDATE CODE: 199911
Record 14 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Syntelencephaly associated with connected transhemispheric cleft of focal cortical dysplasia.
AUTHOR(S): Fujimoto-S; Togari-H; Banno-T; Wada-Y
ADDRESS OF AUTHOR: Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1999 May; 20(5): 387-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The authors report a female with syntelencephaly associated with a connected transhemispheric cleft of focal cortical dysplasia. Syntelencephaly is a rare anomaly characterized by fusion of the hemispheres in the posterior frontal and parietal regions and is considered a new variant of holoprosencephaly. Cranial magnetic resonance imaging of the patient revealed syntelencephaly associated with bilateral fused clefts of focal cortical dysplasia without the pial-ependymal seam, which was regarded as an incomplete type of schizencephaly. The underlying mechanism is discussed.
MINOR MESH HEADINGS: Developmental-Disabilities-etiology; Developmental-Disabilities-pathology; Holoprosencephaly-etiology; Infant-; Infant,-Newborn; Prosencephalon-pathology
MAJOR MeSH HEADINGS: *Holoprosencephaly-pathology; *Prosencephalon-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99297797
UPDATE CODE: 199911
Record 15 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
AUTHOR(S): del-Campo-M; Hall-BD; Aeby-A; Nassogne-MC; Verloes-A; Roche-C; Gonzalez-C; Sanchez-H; Garcia-Alix-A; Cabanas-F; Escudero-RM; Hernandez-R; Quero-J
ADDRESS OF AUTHOR: Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, California 92103-8446, USA. mdelcampo@ucsd.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Aug 27; 85(5): 479-85
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal growth retardation, microcephaly, and profound developmental delay. Additional central nervous system anomalies present in at least one patient included hypoplasia of the cerebellar vermis, white matter neuronal heterotopia, or bilateral schizencephaly. Repeated viral, bacterial, and fungal infections were consistent with a primary immunodeficiency. However, immunological studies showed variable, nonspecific findings. Cardiomyopathy with progressive heart failure or infection led to death before age 2 years in three of the patients. This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this unique disorder. Affected sibs of both sexes born to unaffected parents provide evidence for autosomal recessive inheritance. Copyright 1999 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Adult-; Fatal-Outcome; Infant-; Syndrome-
MAJOR MeSH HEADINGS: *Albinism-genetics; *Corpus-Callosum-abnormalities; *Developmental-Disabilities-genetics; *Genes,-Recessive
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 99362344
UPDATE CODE: 199911
Record 16 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Location of the primary motor cortex in schizencephaly.
AUTHOR(S): Lee-HK; Kim-JS; Hwang-YM; Lee-MJ; Choi-CG; Suh-DC; Lim-TH
ADDRESS OF AUTHOR: Department of Radiology, Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1999 Jan; 20(1): 163-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND AND PURPOSE: Functional reorganization of the brain can result from congenital brain disorders as well as from brain infarction. The purpose of our study was to use functional MR imaging to determine whether reorganization of brain function occurs in patients with schizencephaly. METHODS: Four patients with schizencephaly (three right-handed, one ambidextrous) presented with seizures. Associated lesions included agenesis of the corpus callosum (n = 1) and absence of the septum pellucidum (n = 1). Functional MR imaging was performed in each patient using a single-section fast low-angle shot (FLASH) blood oxygen level-dependent (BOLD) technique at 1.5 T in a standard head coil. The motor cortex was initially identified on an axial T1-weighted anatomic image. Thirty consecutive images were obtained during a motor task consisting of repetitive finger-to-thumb opposition. The percentage of change in increased signal intensity was calculated for the primary motor area. An ipsilateral activation index was used to compare the affected with the unaffected hemisphere. RESULTS: The percentage of change in increased signal intensity in the area of activation ranged from 4.8% +/- 0.9 to 9.2% +/- 1.2 (mean, 5.6% +/- 1.5). The ipsilateral activation index in the affected hemisphere was 0.00 to 0.38, whereas that in the unaffected hemisphere was 15.4 to infinity. The difference in the ipsilateral activation index between each hemisphere was considered significant. CONCLUSION: Our results showed increased activation in the unaffected hemisphere in patients with schizencephaly, which may reflect functional reorganization of the motor area in patients with this congenital disorder.
MINOR MESH HEADINGS: Adolescence-; Adult-; Brain-Mapping
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Magnetic-Resonance-Imaging; *Motor-Cortex-abnormalities
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99139655
UPDATE CODE: 199907
Record 17 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Epilepsy and disorders of cortical development in children with congenital cytomegalovirus infection]
ORIGINAL TITLE: Epilepsia y alteraciones del desarrollo cortical en ninos con infeccion congenita por citomegalovirus.
AUTHOR(S): Perez-Jimenez-A; Colamaria-V; Franco-A; Grimau-Merino-R; Darra-F; Fontana-E; Zullini-E; Beltramello-A; Dalla-Bernardina-B
ADDRESS OF AUTHOR: Servicio de Neuropsiquiatria Infantil, Hospital Policlinico, Universidad de Verona, Italia.
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Neurol. 1998 Jan; 26(149): 42-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0210-0010
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: INTRODUCTION: Neuroimaging and experimental studies have related cytomegalovirus (CMV) to certain neuronal migration disorders. MATERIAL AND METHODS: To define the electroclinical picture of children with epilepsy associated with disorders of cortical development (DCD) and congenital CMV infection, we conducted a clinical, electroencephalographic and neuroradiological study of 10 children with this condition. RESULTS: Eighty per cent of them had dismorphic traits, or malformations outside CNS. All showed other neuroradiological signs (cerebral calcification, white matter damage, porencephaly). Six patients with bihemispheric DCD (agyria-pachigyria, 2; 'poligyria', 1; schizencephaly, 1; bilateral opercular DCD, 2) showed: Tetraparesis, severe or profound mental deficiency, early onset epilepsy (mean age at onset: 11 months) with spasms, tonic seizures, partial seizures, and multifocal paroxysms or unusual diffuse sharp Alfa-Beta EEG activity. One child developed Epilepsia Partialis Continua. Children with bilateral opercular DCD evolved to a continuous spike and wave (SW) electrical status during wakefulness and sleep, linked to a worsening of psychomotor derangement. Four patients with unilateral hemispheric DCD (pachigyric or 'poligyric') showed: Congenital hemiparesis, mild intellectual deficiency, motor seizures (orofacial, hemiclonic, generalized) beginning in the third year of live, atypical absences with focal phenomena, frequent focal rhythmic SW discharges during wakefulness, and continuous SW status during sleep (CSWS). CONCLUSIONS: A wide spectrum of DCD due to congenital CMV infection is documented. Characteristic electroclinical pictures related to the extent and topographical distribution of the DCD are recognized, which may lead to an appropriate diagnosis and prognosis.
MINOR MESH HEADINGS: Basal-Ganglia-pathology; Calcinosis-pathology; Calcinosis-radiography; Cerebral-Cortex-pathology; Cerebral-Cortex-radiography; Cerebral-Ventricles-pathology; Cerebral-Ventriculography; Child-; Child,-Preschool; Electroencephalography-; English-Abstract; Epilepsies,-Myoclonic-diagnosis; Epilepsies,-Partial-diagnosis; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Mental-Retardation-etiology; Psychomotor-Disorders-etiology; Sleep-physiology; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Cytomegalovirus-Infections-congenital; *Epilepsies,-Myoclonic-etiology; *Epilepsies,-Partial-etiology
CHECKTAGS: Case-Report; Comparative-Study; English-Abstract; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98194399
UPDATE CODE: 199808
Record 18 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Twins with different temporal lobe malformations: schizencephaly and arachnoid cyst.
AUTHOR(S): Briellmann-RS; Jackson-GD; Torn-Broers-Y; Berkovic-SF
ADDRESS OF AUTHOR: Brain Imaging Research Institute and Department of Neurology, Austin and Repatriation Medical Center, Heidelberg West, Victoria, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Neuropediatrics. 1998 Dec; 29(6): 284-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0174-304X
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: The etiology and relationships between different forms of malformations of cortical development are poorly understood. Schizencephaly is generally regarded as unrelated to arachnoid cysts. As part of a systematic study of epilepsy in twins we observed a monozygotic twin pair discordant for temporal lobe epilepsy where the twin with epilepsy had unilateral temporal schizencephaly and periventricular heterotopia. The twin without epilepsy had an arachnoid cyst in the same temporal lobe. Although an incidental association is possible, this observation, together with occasional reports of schizencephaly and arachnoid cysts within one individual, suggests a shared pathogenic mechanism. Schizencephaly can be caused by both genetic and acquired factors. We propose that our observations in this twin pair are best explained by a genetic factor present in both twins, with an additional environmental insult resulting in schizencephaly in only one of the pair.
MINOR MESH HEADINGS: Adult-; Arachnoid-Cysts-etiology; Arachnoid-Cysts-pathology; Epilepsy,-Temporal-Lobe-pathology; Follow-Up-Studies; Hippocampus-pathology; Infant-; Infant,-Newborn; Infant,-Premature; Magnetic-Resonance-Imaging; Temporal-Lobe-pathology
MAJOR MeSH HEADINGS: *Arachnoid-Cysts; *Diseases-in-Twins; *Epilepsy,-Temporal-Lobe-etiology; *Temporal-Lobe-abnormalities; *Twins,-Monozygotic
CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99151803
UPDATE CODE: 199907
Record 19 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Neuronal migration disorders. Part II: Magnetic resonance imaging.
AUTHOR(S): Saatci-I; Turanli-G; Renda-Y
ADDRESS OF AUTHOR: Department of Radiology, Hacettepe University Faculty of Medicine, Ankara.
SOURCE (BIBLIOGRAPHIC CITATION): Turk-J-Pediatr. 1998 Oct-Dec; 40(4): 481-90
INTERNATIONAL STANDARD SERIAL NUMBER: 0041-4301
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: TURKEY
ABSTRACT: With the widespread use of magnetic resonance imaging (MRI), neuronal migration disorders (NMD), including lissencephaly, pachygyria, polymicrogyria, schizencephaly, unilateral hemimegalencephaly and gray matter heterotopia, are more frequently and easily diagnosed. When NMD is a diagnostic consideration, MRI should be the imaging method of choice with the high contrast between gray and white matter it provides and its high resolution multiplanar display of anatomy. Magnetic resonance imaging displays the size, configuration and distribution of cortical gyri and cortical thickness for the evaluation of possible lissencephaly, pachygyri and polymicrogyri. It will successfully demonstrate deposits of gray matter in abnormal locations when gray matter heterotopias are present. With its multiplanar imaging capability, MRI will demonstrate the cleft extending from the pial surface to the ventricular ependyma whether the lips of the cleft are fused or separate, thus providing the diagnosis of schizencephaly.
MINOR MESH HEADINGS: Cell-Movement; Neocortex-pathology; Neurons-
MAJOR MeSH HEADINGS: *Brain-Diseases-diagnosis; *Magnetic-Resonance-Imaging; *Neocortex-abnormalities
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 99153232
UPDATE CODE: 199906
Record 20 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Computerized tomography in agenesis of the corpus callosum: findings in 27 cases]
ORIGINAL TITLE: Tomografia computadorizada na agenesia do corpo caloso: achados em 27 casos.
AUTHOR(S): Minguetti-G; Furtado-K; De-Agostini-LC
ADDRESS OF AUTHOR: Departamento de Clinica Medica, Universidade Federal do Parana (UFPR), Curitiba, Brasil.
SOURCE (BIBLIOGRAPHIC CITATION): Arq-Neuropsiquiatr. 1998 Sep; 56(3B): 601-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0004-282X
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: PORTUGUESE; NON-ENGLISH
COUNTRY OF PUBLICATION: BRAZIL
ABSTRACT: We describe a retrospective study of 27 cases of complete agenesis of the corpus callosum examined by CT and not associated to schizencephaly, holoprosencephaly and Dandy-Walker complex. Partial agenesis is also not included in the present study. The imaging findings are correlated to sex, age and symptoms.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; English-Abstract; Infant-; Infant,-Newborn; Retrospective-Studies
MAJOR MeSH HEADINGS: *Corpus-Callosum-abnormalities; *Corpus-Callosum-radiography; *Tomography,-X-Ray-Computed
CHECKTAGS: English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99067742
UPDATE CODE: 199905
Record 21 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Clinical patterns of neuronal migrational disorders and parental consanguinity.
AUTHOR(S): al-Qudah-AA
ADDRESS OF AUTHOR: Pediatric Department, Jordan University Hospital, Amman, Jordan.
SOURCE (BIBLIOGRAPHIC CITATION): J-Trop-Pediatr. 1998 Dec; 44(6): 351-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0142-6338
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The role of inheritance in neuronal migrational disorders is under intense investigation. Studies on neuronal migrational disorders (NMDs) from developing countries that have a high rate of parental consanguinity are lacking. The present study included 29 children (aged 15 days-12 years, mean age 1.4 years) who were diagnosed to have NMDs, from a non-selected population with seizures and non-selected population of cognitive developmental delay, in the period January 1994 to April 1997. Seventeen (58.6 per cent) patients had lissencephaly, four (13.8 per cent) patients had pachygyria, three (10.3 per cent) patients had neuronal heterotopia, four (13.8 per cent) patients had schizencephaly, one patient (3.4 per cent) had hemimegalencephaly, and 14 (48.2 per cent) patients with NMDs had other associated conditions. Lissencephalic patients had a high rate of parental consanguinity (88.2 per cent) and family history of possible similar cases (76.4 per cent). In conclusion, lissencephaly is probably the commonest neuronal migrational disorder in communities with a high rate of parental consanguinity, adding significant support to the literature on the genetic aetiology of lissencephaly.
MINOR MESH HEADINGS: Cerebral-Cortex-pathology; Cerebral-Cortex-radiography; Child-; Child,-Preschool; Developmental-Disabilities-epidemiology; Electroencephalography-; Incidence-; Infant-; Infant,-Newborn; Jordan-epidemiology; Magnetic-Resonance-Imaging; Risk-Factors; Seizures-classification; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Cell-Movement; *Cerebral-Cortex-abnormalities; *Consanguinity-; *Developmental-Disabilities-diagnosis; *Developmental-Disabilities-genetics; *Neurons-pathology; *Seizures-etiology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99137983
UPDATE CODE: 199905
Record 22 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Mediobasal and mantle defect of the prosencephalon: lobar holoprosencephaly, schizencephaly and diabetes insipidus.
AUTHOR(S): Sztriha-L; Varady-E; Hertecant-J; Nork-M
ADDRESS OF AUTHOR: Department of Pediatrics, UAE University, Al Ain, United Arab Emirates.
SOURCE (BIBLIOGRAPHIC CITATION): Neuropediatrics. 1998 Oct; 29(5): 272-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0174-304X
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: An infant is described who had a combination of lobar holoprosencephaly and open-lip schizencephaly. Midline fusion of the basal ganglia was associated with bilateral absence of abundant parts of the brain mantle. Agenesis of the corpus callosum, hypoplasia of the optic nerves and chiasm, absence of the septum pellucidum, posterior pituitary and olfactory bulbs were further components of the malformation. Blindness, intractable seizures, spastic tetraplegia, somatomental retardation and diabetes insipidus were the main clinical features. A defect in the induction of the mediobasal part of the prosencephalon and failure of cell proliferation can be responsible for this complex malformation. Recent results of homeobox gene research relevant to the development of the prosencephalon are discussed.
MINOR MESH HEADINGS: Brain-radiography; Consanguinity-; Diabetes-Insipidus-complications; Echoencephalography-; Fatal-Outcome; Genes,-Homeobox; Holoprosencephaly-genetics; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Prolactin-blood
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Diabetes-Insipidus-diagnosis; *Holoprosencephaly-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 9002-62-4
NAME OF SUBSTANCE: Prolactin
MEDLINE ACCESSION NUMBER: 99028259
UPDATE CODE: 199903
Record 23 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Magnetic resonance images of neuronal migration anomalies.
AUTHOR(S): Jaw-TS; Sheu-RS; Liu-GC; Chou-MS
ADDRESS OF AUTHOR: Department of Radiology, Kaohsiung Medical College, Kaohsiung, Taiwan, Republic of China.
SOURCE (BIBLIOGRAPHIC CITATION): Kao-Hsiung-I-Hsueh-Ko-Hsueh-Tsa-Chih. 1998 Aug; 14(8): 504-13
INTERNATIONAL STANDARD SERIAL NUMBER: 0257-5655
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: TAIWAN
ABSTRACT: Neuronal migration anomalies are a spectrum of brain malformations caused by insults to migrating neuroblasts during the sixth week to fifth month of gestation. To study the characteristics of MRI findings in migration anomalies, MR images of 36 patients (28 children and 8 adults) with migration anomalies were evaluated. Five patients had lissencephaly, eight had pachygyria, twelve had schizencephaly, six had heterotopias of gray matter, three had hemimegalencephaly, and two had polymicrogyria. The frequency of migration anomalies was 0.51% of all cranial MRI studies and 1.21% of pediatric cranial MRI studies at our hospital. The major clinical presentations of these patients were seizure (64%), development delay (42%), motor deficits (42%) and mental retardation (25%). Twenty-five patients (69%) associated with other brain anomalies, including: other migration anomalies in 12 cases (33%), absence of the septum pellucidum in 10 cases (28%), Dandy-Walker malformation/variant in 5 cases, arachnoid cyst in 4 cases, agenesis of the corpus callosum in 3 cases, holoprosencephaly in 2 cases, mega cisterna magna in 1 case and cephalocele in 1 case. Some of them presented with multiple complicated anomalies. As MR imaging provides superb gray-white matter distinction, details of cortical anatomy and multiplanar capability, it can clearly delineate the detail morphologic changes of the brain caused by neuronal migration disorders as well as the associated anomalies.
MINOR MESH HEADINGS: Adolescence-; Adult-; Cell-Movement; Child-; Child,-Preschool; Infant-; Infant,-Newborn; Middle-Age
MAJOR MeSH HEADINGS: *Brain-abnormalities
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98453886
UPDATE CODE: 199901
SUBSET: DENTAL
Record 24 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Schizencephaly and congenital cytomegalovirus infection.
AUTHOR(S): Nuri-Sener-R
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neuroradiol. 1998 Jul; 25(2): 151-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0150-9861
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: Congenital cytomegalovirus (CMV) infection is known to be associated with some of the disorders of neuronal migration and organization, including gray matter heterotopias, and polymicrogyria. We report a patient with schizencephaly and congenital CMV infection.
MINOR MESH HEADINGS: Infant-
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Cytomegalovirus-Infections-congenital
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98436284
UPDATE CODE: 199901
Record 25 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Deep calcarine sulcus and prominent calcar avis.
AUTHOR(S): Savas-R; Sener-RN
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neuroradiol. 1998 Jul; 25(2): 144-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0150-9861
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: MR imaging examinations of the brain 100 consecutive patients, ages ranging from 1 year to 66 years, were evaluated in order to investigate the frequency of a deep calcarine sulcus and prominent calcar avis. Twenty-four cases (24%) were found with a deep calcarine sulcus and prominent calcar avis. These were bilateral in four patients, and unilateral in twenty. Fifteen of the unilateral cases demonstrated a right-sided involvement, and remaining five were left-sided. A deep calcarine sulcus and prominent calcar avis should be distinguished from disorders of neuronal migration and organization such as schizencephaly and heterotopia. Also, based on our findings in this study, we speculate that it is the deep calcarine sulcus and prominent calcar avis which creates the appearance of the so-called accessory occipital ventricle.
MINOR MESH HEADINGS: Adolescence-; Adult-; Aged-; Child-; Child,-Preschool; Infant-; Magnetic-Resonance-Imaging; Middle-Age
MAJOR MeSH HEADINGS: *Occipital-Lobe-anatomy-and-histology; *Parietal-Lobe-anatomy-and-histology; *Temporal-Lobe-anatomy-and-histology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98436282
UPDATE CODE: 199901
Record 26 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [The value of images in diagnosis of neuron migration disorders]
ORIGINAL TITLE: Valor de la imagen en el diagnostico de los trastornos de la migracion neuronal.
AUTHOR(S): Pascual-Castroviejo-I; Viano-J; Roche-C; Martinez-Bermejo-A; Martinez-Fernandez-V; Arcas-J; Pascual-Pascual-SI; Lopez-Martin-V; Tendero-A; Fernandez-Jaen-A; Quijano-S
ADDRESS OF AUTHOR: Servicio de Neurologia Pediatrica, Hospital Universitario La Paz, Universidad Autonoma de Madrid, Espana.
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Neurol. 1998 Aug; 27(156): 246-58
INTERNATIONAL STANDARD SERIAL NUMBER: 0210-0010
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: OBJECTIVE: To present the fitest classification and the imaging peculiarities of the malformations of cortical development, most of which have been related with the epilepsy origin. METHODS: The study is based on an anatomical-histological classification scheme that shows three great groups of malformations of cortical development: 1. Malformations due to abnormal neuronal and glial proliferation. 2. Malformations due to abnormal neuronal migration. 3. Malformations due to abnormal cortical organization. RESULTS: The result of these abnormalities of the cortical development is the presence of several anatomical histological entities, actually perfectly identified by the magnetic resonance (MR), especially with the new high resolution methods. The most frequent entities, such as polymicrogyria, lissencephaly, pachygyria, schizencephaly, cerebral heterotopia (cortical, subcortical or subependymal), and other rarer types are reviewed according with the numerous references of the literature and the findings observed in the cases of our series of about one hundred patients which includes cases of every type of malformation. CONCLUSION: MR is a conclusive study in order to identify and classify the malformations of cortical development, most of which are associated with neurological disturbances: epilepsy, mental retardation, language and/or behavioral problems or motor dysfunction.
MINOR MESH HEADINGS: Chromosome-Abnormalities-genetics; English-Abstract; Epilepsy-etiology; Magnetic-Resonance-Angiography; Magnetic-Resonance-Imaging; Neuroglia-physiology; X-Chromosome-genetics
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Cell-Movement-physiology; *Neurons-physiology
CHECKTAGS: English-Abstract; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 98408162
UPDATE CODE: 199812
Record 27 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Neuronal migration disorders]
ORIGINAL TITLE: Trastornos de migracion neuronal.
AUTHOR(S): Velez-Dominguez-LC
ADDRESS OF AUTHOR: Departamento de Neurologia Pediatrica, Hospital General Centro Medico Nacional La Raza, Instituto Mexicano del Seguro Social, Mexico, D.F.
SOURCE (BIBLIOGRAPHIC CITATION): Gac-Med-Mex. 1998 Mar-Apr; 134(2): 207-15
INTERNATIONAL STANDARD SERIAL NUMBER: 0016-3813
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: MEXICO
ABSTRACT: Neuronal migration disorders represent a group of congenital nervous system malformations that affect the process whereby millions of neuroectodermic cells move from germinal matrix to the loci, where they will reside for life. They produce important changes in cytoarchitecture, lamination and normal neuronal physiology, particularly in cerebral cortex. These disorders appear as sporadic cases, genetically determined or caused by external agents as infections, intoxications and radiations, etc. The better identified nosological entities include: schizencephaly, lissencephaly, pachygyria, polymicrogyria, neuronal heterotopias and agenesis of corpus callosum. Patients usually present early symptoms and signs of disease and epilepsy is a dominant manifestation. By means of studies of craneal computed tomography (CCT), magnetic resonance (MR), positron emission tomography (PET), single-photon emission computed tomography (SPECT) and immunohistochemical and Golgi studies (IHG), it has been recently shown that nervous system dysgenesis can be a frequent cause of many refractory epilepsies and epileptic syndromes considered as cryptogenic. When these disorders are associated with dismorphic stigmas, genetics syndromes such as Miller-Dieker, Zellweger and Aicardi should be suspected.
MINOR MESH HEADINGS: Brain-radiography; Corpus-Callosum-abnormalities; English-Abstract; Epilepsy-etiology; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed; Zellweger-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Cell-Movement; *Neurons-
CHECKTAGS: Comparative-Study; English-Abstract; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98282719
UPDATE CODE: 199809
Record 28 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Anterior (atypical) callosal absence due to cortical dysplasia and schizencephaly.
AUTHOR(S): Nuri-Sener-R
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neuroradiol. 1998 Mar; 25(1): 49-51
INTERNATIONAL STANDARD SERIAL NUMBER: 0150-9861
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: The corpus callosum develops from anterior to posterior, starting at the commissural plate of the lamina terminalis. We report a patient with cortical dysplasia and schizencephaly, which apparently interfered with the normal callosal development before 20 gestational weeks. The result was an atypical callosal dysgenesis in which the anterior parts (including anterior body, genu and rostrum) were absent while the remaining parts were developed. This finding suggests that the commissural plate may not be the only region where the corpus callosum starts to develop in some congenital brain malformations.
MINOR MESH HEADINGS: Adult-; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Cerebral-Cortex-abnormalities; *Corpus-Callosum-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98246722
UPDATE CODE: 199808
Record 29 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Cytomegalovirus infection and schizencephaly: case reports.
AUTHOR(S): Iannetti-P; Nigro-G; Spalice-A; Faiella-A; Boncinelli-E
ADDRESS OF AUTHOR: Child Neurology Division, University La Sapienza, Rome, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Neurol. 1998 Jan; 43(1): 123-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Two children with left open-lip schizencephaly are reported. Cytomegalovirus (CMV) infection was demonstrated on the second day of life in Patient 1; in the other patient CMV infection was observed at the age of 4 years. Magnetic resonance imaging revealed polymicrogyric cortex lining the clefts. In Patient 2 polymicrogyria was also present in the corresponding area contralateral to the schizencephaly. Computed tomography revealed the presence of subependymal periventricular calcifications. Genetic analysis did not demonstrate the presence of EMX2 homeobox gene. The possible role of CMV infection in the complex multifactorial pathogenesis of schizencephaly is therefore suggested.
MINOR MESH HEADINGS: Brain-pathology; Brain-radiography; Calcinosis-radiography; Cytomegalovirus-genetics; Cytomegalovirus-Infections-virology; DNA-genetics; DNA,-Viral-analysis; Ependyma-radiography; Genes,-Homeobox-genetics; Homeodomain-Proteins-genetics; Infant-; Magnetic-Resonance-Imaging; Mutation-; Nerve-Tissue-Proteins-genetics; Polymorphism,-Single-Stranded-Conformational; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Cerebral-Cortex-virology; *Cytomegalovirus-Infections-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 9007-49-2
NAME OF SUBSTANCE: DNA,-Viral; EMX2-protein; Homeodomain-Proteins; Nerve-Tissue-Proteins; DNA
MEDLINE ACCESSION NUMBER: 98111255
UPDATE CODE: 199804
Record 30 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: MRI of a family with focal abnormalities of gyration.
AUTHOR(S): Muntaner-L; Perez-Ferron-JJ; Herrera-M; Rosell-J; Taboada-D; Climent-S
ADDRESS OF AUTHOR: Department of Radiology, Son Dureta University Hospital, Palma de Mallorca, Spain.
SOURCE (BIBLIOGRAPHIC CITATION): Neuroradiology. 1997 Aug; 39(8): 605-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3940
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Focal abnormalities of gyration (FAG) are developmental disorders that may occur in isolated patients or, as in the case being reported, as part of a familial disorder. Analysis of individuals in a family spanning three generations was carried out using MRI. Abnormalities, present in all members of generations II and III, included focal cortical dysplasia (three patients), focal cortical infolding (two patients) and schizencephaly (one patient); associated minor anomalies, such as white matter abnormalities, were seen in the remaining three members of generations II and III. MRI recognition of FAG in the family being reported proved useful in defining their phenotypical expression and providing proper counselling for individual family members.
MINOR MESH HEADINGS: Adult-; Aged-; Brain-Diseases-diagnosis; Cerebral-Cortex-pathology; Choristoma-diagnosis; Electroencephalography-; Epilepsies,-Partial-diagnosis; Epilepsies,-Partial-genetics; Karyotyping-; Middle-Age; Pedigree-; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Brain-Diseases-genetics; *Cerebral-Cortex-abnormalities; *Choristoma-genetics; *Magnetic-Resonance-Imaging; *Neurons-
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97418541
UPDATE CODE: 199712
Record 31 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Abnormally distributed regional cerebral blood flow in brain malformations detected by single photon emission computed tomography]
AUTHOR(S): Ueda-M; Kamiya-T; Sakamoto-S; Katayama-Y; Terashi-A
ADDRESS OF AUTHOR: Second Department of Internal Medicine, Nippon Medical School.
SOURCE (BIBLIOGRAPHIC CITATION): Rinsho-Shinkeigaku. 1997 Feb; 37(2): 99-105
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-918X
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: Brain malformations are rare congenital anomalies caused by neuronal migration disorders or cerebral tissue destruction during gestation. And epileptic disorders and psychomotor retardation are sometimes induced by them. Previous understanding of these anomalies was derived from pathologic studies after autopsy. The recent advancement of neuroimaging techniques, such as magnetic resonance imaging (MRI), has allowed us to achieve a high diagnostic capability of these malformations. These abnormalities have been more widely recognized morphologically. However, cerebral function in these cases has been rarely described. To evaluate the cerebral functional state in these anomalies, 123I-N-isopropyl-p-iodoamphetamine (123I-IMP) single photon emission computed tomography (SPECT) was performed in 3 cases with brain malformations and 22 normal controls. Several regions of interest (ROI) in the cortex were determined, and the radioactivity at each ROI was counted. The regional cerebral blood flow (rCBF) distribution was evaluated semiquantitatively by calculating the cortico-cerebellar ratios at each ROI. A 23-year-old female with schizencephaly (Case-1) and a 21-year-old male (Case-2) with polymicrogyria showed increased rCBF in their abnormal cortices. And a 39-year-old male with porencephaly (Case-3) demonstrated severely decreased rCBF in his abnormal cortex with gliosis which was considered to be a result from a secondarily disturbed neuronal migration after tissue destruction during gestation. Furthermore, abnormal rCBF distribution was observed in their morphologically normal cortices in addition to their abnormal cortices compared to normal controls. Case-2 showed decreased cerebral perfusion in the morphologically normal cortex around his abnormal cortex with increased rCBF, suggesting surrounding suppression associated with epileptic foci. In contrast, the lesions with decreased rCBF in Case-1 were not around the abnormal cortices. In the cortices with decreased rCBF, despite morphologically normal imaging, of Case-3, the decrement was considered to be diaschisis, since these lesions were located in the ipsilateral hemisphere of the tissue defect. We concluded that brain malformations show various rCBF abnormalities, and these are spread over a larger area than detected by MRI. Therefore, SPECT is a valuable examination method for the determination of abnormal areas and the assessment of pathologic functional state in patients with brain malformations.
MINOR MESH HEADINGS: Adolescence-; Adult-; Amphetamines-diagnostic-use; English-Abstract; Iodine-Radioisotopes-diagnostic-use; Middle-Age
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-radionuclide-imaging; *Cerebrovascular-Circulation; *Tomography,-Emission-Computed,-Single-Photon
CHECKTAGS: Case-Report; English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 95896-48-3
NAME OF SUBSTANCE: Amphetamines; Iodine-Radioisotopes; Iofetamine
MEDLINE ACCESSION NUMBER: 97306918
UPDATE CODE: 199709
Record 32 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.
AUTHOR(S): Faiella-A; Brunelli-S; Granata-T; D'Incerti-L; Cardini-R; Lenti-C; Battaglia-G; Boncinelli-E
ADDRESS OF AUTHOR: DIBIT, Istituto Scientifico H San Raffaele, Department of Child Neurology, Milan, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Hum-Genet. 1997 Jul-Aug; 5(4): 186-90
INTERNATIONAL STANDARD SERIAL NUMBER: 1018-4813
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: We report here that some patients affected by schizencephaly are heterozygous for mutations in EMX2, a homeobox gene implicated in the patterning of the developing forebrain. Schizencephaly is a very rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. Large portions of these may be absent and replaced by cerebrospinal fluid. We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of schizencephaly. We now extend this analysis to 10 additional patients, including 2 brothers. Six patients were found to be heterozygous for de novo mutations in EMX2. In particular, the 2 brothers show the same mutation affecting the splicing of the first intron, while this mutation is absent in their parents and in the 2 unaffected siblings.
MINOR MESH HEADINGS: Base-Sequence; Brain-pathology; DNA-; Heterozygote-; Magnetic-Resonance-Imaging; Molecular-Sequence-Data
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Genes,-Homeobox; *Germ-Line-Mutation; *Homeodomain-Proteins-genetics; *Nerve-Tissue-Proteins-genetics
CHECKTAGS: Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 9007-49-2
NAME OF SUBSTANCE: EMX2-protein; Homeodomain-Proteins; Nerve-Tissue-Proteins; DNA
MEDLINE ACCESSION NUMBER: 98023960
UPDATE CODE: 199803
Record 33 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Surgical treatment of epilepsy from schizencephaly with fused lips.
AUTHOR(S): Maehara-T; Shimizu-H; Nakayama-H; Oda-M; Arai-N
ADDRESS OF AUTHOR: Tokyo Metropolitan Neurological Hospital, Department of Neurosurgery, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Surg-Neurol. 1997 Nov; 48(5): 507-10
INTERNATIONAL STANDARD SERIAL NUMBER: 0090-3019
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Surgical treatment of schizencephaly with fused lips has been reported in few cases. In all of the previously reported cases, temporal lobectomy was selected as a major surgical treatment, except for one case with cortical resection. We present a case of direct resection of dysplastic walls of the schizencephalic cleft and the surrounding epileptic area. CASE: This 20-year-old college student with medication-resistant epilepsy was surgically treated by subpial cortical resection of the epileptogenic area around a schizencephalic cleft. Magnetic resonance imaging showed an unilateral schizencephalic cleft with fused lips in the right parietal lobe. Pathologic examination demonstrated dysplastic neurons in the epileptogenic cortex. Intraoperative electrocorticography clearly detected epileptiform discharges around the cleft, and the epileptogenic lesion was completely resected. He has been seizure-free for 1 year since the operation and he has no neurologic deficits. CONCLUSION: Subpial resection of the dysplastic cortex surrounding the cleft under the guide of electrocorticography is an effective and minimally invasive procedure for the treatment of schizencephaly.
MINOR MESH HEADINGS: Adult-; Cerebral-Cortex-physiopathology; Electroencephalography-; Epilepsy-pathology; Epilepsy-physiopathology; Monitoring,-Intraoperative
MAJOR MeSH HEADINGS: *Cerebral-Cortex-pathology; *Cerebral-Cortex-surgery; *Epilepsy-etiology; *Epilepsy-surgery
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98014183
UPDATE CODE: 199801
Record 34 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.
AUTHOR(S): Gropman-AL; Barkovich-AJ; Vezina-LG; Conry-JA; Dubovsky-EC; Packer-RJ
ADDRESS OF AUTHOR: Department of Neurology, Children's National Medical Center, George Washington University Medical Center, Washington, DC, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Neuropediatrics. 1997 Aug; 28(4): 198-203
INTERNATIONAL STANDARD SERIAL NUMBER: 0174-304X
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: In 1926, Foix, Chavany and Marie described an acquired syndrome of fasciopharyngoglossomasticatory diplegia resulting from bilateral infarction of the anterior operculum. Clinical features consisted of facial diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and seizures. A developmental form, similar in presentation in adults with MRI findings consisting of bilateral perisylvian cortical malformation consistent with polymicrogyria involving the sylvian fissure and opercular cortex, has been recognized; but few pediatric cases of congenital bilateral perisylvian syndrome (CBPS) have been reported. Over the past four years, we have encountered 12 cases of CBPS presenting in childhood. Age ranges were from 1 week to 11 years with a median of 2.25 years; six were less than two years of age. Seven were male and five female. Ten had bilateral perisylvian polymicrogyria on MRI; two had unilateral perisylvian schizencephaly with contralateral perisylvian polymicrogyria. Clinical manifestations included developmental delay in 7; poor palatal function in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea in 3; paraparesis in 2; micrognathia in 2; pectus excavatum in 2; quadriparesis in 1; and hearing loss in 1. Seizures occurred in seven (58%) and consisted of infantile spasms (n = 1), generalized tonic-clonic (n = 1), complex partial (n = 2), partial motor (n = 2; 1 with secondary generalization), and febrile convulsions (n = 1). CBPS has different manifestations in the pediatric population than in adults. CBPS is more common than previously thought, is recognizable by MRI and should be suspected clinically in any infant or child presenting with oromotor dysfunction/pseudobulbar signs and developmental delay, especially if there are associated congenital malformations. Epilepsy is not a constant feature in the pediatric presentation and is variable in type and severity.
MINOR MESH HEADINGS: Abnormalities,-Multiple-physiopathology; Adult-; Arthrogryposis-complications; Cerebral-Cortex-pathology; Cerebral-Cortex-physiopathology; Child-; Child,-Preschool; Developmental-Disabilities-etiology; Developmental-Disabilities-pathology; Electroencephalography-; Epilepsy-etiology; Epilepsy-pathology; Facial-Paralysis-congenital; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Palate-physiopathology; Retrospective-Studies; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-pathology; *Cerebral-Cortex-abnormalities; *Paralysis-congenital
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97455338
UPDATE CODE: 199801
Record 35 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Schizencephaly associated with psychosis.
AUTHOR(S): Alexander-RC; Patkar-AA; Lapointe-JS; Flynn-SW; Honer-WG
ADDRESS OF AUTHOR: Center for Studies of Addiction, Department of Psychiatry, University of Pennsylvania, Philadelphia 19104, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neurol-Neurosurg-Psychiatry. 1997 Sep; 63(3): 373-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3050
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Schizencephaly is a rare disorder of brain development resulting in the formation of abnormal unilateral or bilateral clefts in the cerebral hemispheres. It is often accompanied by partial seizures, mental retardation, and hemiparesis. Two patients are described with clear psychotic symptoms with either unilateral or bilateral schizencephaly. The implications of the association between schizencephaly and psychosis in these patients for understanding the biology of the psychoses are discussed.
MINOR MESH HEADINGS: Adult-; Frontal-Lobe-pathology; Magnetic-Resonance-Imaging; Mental-Retardation-diagnosis; Septum-Pellucidum-abnormalities; Wechsler-Scales
MAJOR MeSH HEADINGS: *Frontal-Lobe-abnormalities; *Psychotic-Disorders-etiology; *Psychotic-Disorders-psychology
CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97466916
UPDATE CODE: 199801
Record 36 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [The relationship between MR images and clinical findings in neuronal migration disorders]
AUTHOR(S): Onuma-A; Kobayashi-Y; Iinuma-K
ADDRESS OF AUTHOR: Division of Pediatric Neurology, Takuto Rehabilitation Center for Disabled Children, Sendai.
SOURCE (BIBLIOGRAPHIC CITATION): No-To-Hattatsu. 1997 Jul; 29(4): 285-90
INTERNATIONAL STANDARD SERIAL NUMBER: 0029-0831
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: Among the variable manifesting conditions of neuronal migration disorders, mental retardation, motor disturbance and epilepsy are the main features of developmental disabilities. We analyzed the relationship between clinical symptoms and magnetic resonance (MR) images, including surface anatomy scan (SAS). Thirty nine patients (23 males, 16 females; mean age 6.1 years) with neuronal migration disorders were studied. The diagnoses were cerebral palsy in 23 cases, mental retardation in 4. West syndrome in 4, Fukuyama type congenital muscular dystrophy (FCMD) in 6. Walker-Warburg syndrome in 1 and Dubowitz syndrome in 1. Cortical dysplasias were classified into the following 7 groups, mainly based on the SAS findings: complete agyria (AG 1), mixture of agyria and pachygyria (AG 2), bilateral complete pachygyria (BP 1), diffuse pachygyria with marked widening of the bilateral superior frontal gyrus (BP 2), unilateral pachygyria with hemispheric atrophy or hemimegalencephaly UP), focal cortical dysplasia (FP) and other findings such as solitary schizencephaly (Others). Most cases of AG 1 and AG 2 showed spastic quadriplegia (6/7) and symptomatic generalized epilepsy (5/7), whereas cases of BP1 showed spasticity only in 1/8 and epilepsy in 7/8. Hemiplegia was observed in 6/7 of UP, 2/8 of FP and 2/4 of Others. Partial epilepsy was observed in 2/7 of UP and 1/8 of FP. Intellectual level was variable in BP 1, UP, FP and Others, but all cases showed severe mental retardation in AG 1, AG 2 and BP 2. BP 2 was observed in all cases of typical FCMD (5/5). The birth weight was less than 2,500 g in 6/7 of UP. The structural findings well correlated with clinical symptoms and epileptic seizure types. The surface anatomy scan was a very useful technique for detecting cortical dysplasias.
MINOR MESH HEADINGS: Adolescence-; Adult-; Cerebral-Cortex-abnormalities; Child-; Child,-Preschool; English-Abstract; Epilepsy-etiology; Infant-; Mental-Retardation-complications; Paralysis-etiology
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Magnetic-Resonance-Imaging
CHECKTAGS: English-Abstract; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97391495
UPDATE CODE: 199711
Record 37 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Role of the ipsilateral motor cortex in mirror movements.
AUTHOR(S): Kanouchi-T; Yokota-T; Isa-F; Ishii-K; Senda-M
ADDRESS OF AUTHOR: Department of Neurology, Tokyo Medical and Dental University, Bunkyo-ku, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neurol-Neurosurg-Psychiatry. 1997 Jun; 62(6): 629-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3050
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The mechanism of mirror movements in two patients was investigated; one with congenital mirror movement, the other with schizencephaly. Transcranial magnetic stimulation on one side elicited motor evoked potentials (MEPs) in their thenar muscles on both sides with almost the same latencies, minimal thresholds, and cortical topographies. During voluntary contraction of the thenar muscle on one side, contralateral transcranial magnetic stimulation induced a silent period not only on the voluntary contraction side but on the mirror movement side and of the same duration. By contrast, ipsilateral transcranial magnetic stimulation elicited MEPs without silent periods in both muscles. With intended unilateral finger movements, an H2(15)O-PET activation study showed that the regional cerebral blood flow increased predominantly in the contralateral sensorimotor cortex, as seen in normal subjects, although mirror movements occurred. It is considered that the ipsilateral motor cortex plays a major part in the generation of mirror movements, which may be induced through the ipsilateral uncrossed corticospinal tract.
MINOR MESH HEADINGS: Adolescence-; Adult-; Electromyography-; Tomography,-Emission-Computed
MAJOR MeSH HEADINGS: *Dominance,-Cerebral; *Motor-Cortex-physiology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97363459
UPDATE CODE: 199710
Record 38 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Schizencephaly: correlations of clinical and radiologic features.
AUTHOR(S): Packard-AM; Miller-VS; Delgado-MR
ADDRESS OF AUTHOR: Department of Neurology, New York Hospital-Cornell University Medical Center, New York, NY 10021, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Neurology. 1997 May; 48(5): 1427-34
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Schizencephaly is an uncommon congenital disorder of cerebral cortical development. Although a well-recognized cause of seizures and developmental deficits in children, previous reports describe the range of neurodevelopmental outcome in only 47 patients. We report the clinical and cranial imaging features of 47 children with unilateral open-lip (17), unilateral closed-lip (12), bilateral open-lip (12), and bilateral closed-lip (6) schizencephaly, as defined radiologically. The schizencephalic cleft occurred more often in the anterior than in the posterior neocortex. Children with closed-lip schizencephaly presented with hemiparesis or motor delay whereas patients with open-lip schizencephaly presented with hydrocephalus or seizures. Forty-three patients (91%) had associated cerebral developmental anomalies, most commonly absence of the septum pellucidum (45%) and focal cortical dysplasia (40%). There was a history of seizures in 57% of cases, a third of which were classified as difficult to control. Neurodevelopmental outcome was generally poor, with 51% of patients (24/47) having severe deficits, 32% of patients (15/47) having moderate impairment, and 17% of patients (8/47) having mild or no problems. Patients with closed-lip schizencephaly were more likely to have a mild to moderate outcome than those with open-lip type (78% versus 31%; p < 0.05). Children with unilateral schizencephaly had a mild or moderate outcome more frequently than those with bilateral lesions (62% versus 28%; p < 0.05). Children who had involvement of a single lobe accounted for 88% of those with mild outcomes and 53% of those with moderate outcomes. Unilateral closed-lip schizencephaly was associated with the best neurodevelopmental outcome; in contrast, 11 of 12 children with bilateral open-lip clefts had severe disabilities. Language development was significantly more likely to be normal in those children with unilateral schizencephaly than in those with bilateral clefts (48% versus 6%; p < 0.002). Thus, the presentation and outcome of children with schizencephaly are quite variable but are related to the extent of cortex involved in the schizencephalic defect.
MINOR MESH HEADINGS: Abnormalities,-Multiple; Adolescence-; Adult-; Brain-pathology; Child-; Child-Development; Child,-Preschool; Cohort-Studies; Electroencephalography-; Hydrocephalus-complications; Hydrocephalus-surgery; Infant-; Magnetic-Resonance-Imaging; Nervous-System-growth-and-development; Nervous-System-physiopathology; Seizures-diagnosis; Seizures-etiology
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-physiopathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97297853
UPDATE CODE: 199708
SUBSET: AIM
Record 39 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Familial schizencephaly associated with EMX2 mutation.
AUTHOR(S): Granata-T; Farina-L; Faiella-A; Cardini-R; D'Incerti-L; Boncinelli-E; Battaglia-G
ADDRESS OF AUTHOR: Neurological Institute C. Besta, Milano, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Neurology. 1997 May; 48(5): 1403-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe two brothers aged 8 and 10 affected by severe bilateral schizencephaly, carrying an identical point mutation of the homeobox gene EMX2. Both children had severe neurologic deficits and mental retardation, although they differed in the anatomic extent of the brain malformation and in the severity of the clinical picture. The present findings, together with the reported cases of schizencephaly associated with EMX2 mutations, support the hypothesis that, at least in some cases, schizencephalies are determined by deleterious mutations of this homeobox gene. The different morphoclinical pictures suggest that, besides the EMX2 mutation, other factors are relevant in determining the severity of the brain malformation and clinical picture.
MINOR MESH HEADINGS: Brain-pathology; Child-; DNA-genetics; Magnetic-Resonance-Imaging; Mental-Retardation-genetics; Nervous-System-Diseases-genetics
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Genes,-Homeobox; *Point-Mutation
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 9007-49-2
NAME OF SUBSTANCE: DNA
MEDLINE ACCESSION NUMBER: 97297849
UPDATE CODE: 199708
SUBSET: AIM
Record 40 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Coexistence of schizencephaly and middle cranial fossa arachnoid cyst: a report of two patients.
AUTHOR(S): Sener-RN
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, TR-35 100 Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-Radiol. 1997; 7(3): 409-11
INTERNATIONAL STANDARD SERIAL NUMBER: 0938-7994
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Two patients are presented with large cerebral schizencephalic clefts and large temporal arachnoid cysts. Neuropathological studies suggest that arachnoid cysts may either arise due to an aberration in the formation of the subarachnoid space or by its splitting. A recently proposed theory for the formation of schizencephaly is that this condition is an extreme variant of cortical dysplasia, in which the infolding of cortex extends all the way into the lateral ventricle. In light of these data, and based on the imaging findings in our two patients with large cerebral schizencephalic clefts and large temporal arachnoid cysts, we propose that the mechanism which causes schizencephaly (deep cortical infolding) may lead to some kind of a traction effect and splitting of the leptomeninges resulting in the formation of an arachnoid cyst adjacent to the schizencephalic cleft. This appears to be a significant observation because the pathogenesis of arachnoid cysts is still controversial.
MINOR MESH HEADINGS: Arachnoid-Cysts-diagnosis; Arachnoid-Cysts-radiography; Brain-radiography; Child-; Child,-Preschool; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Arachnoid-Cysts-complications; *Brain-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97244598
UPDATE CODE: 199707
Record 41 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: MR imaging surface display of the cerebral cortex in children.
AUTHOR(S): Lee-BC; Hatfield-G; Park-TS; Kaufman-BA
ADDRESS OF AUTHOR: Department of Radiology, St. Louis Children's Hospital, MO 63110, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Radiol. 1997 Mar; 27(3): 199-206
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0449
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: The purpose of this study was to introduce the use of three-dimensional (3D) surface MR imaging display for clinical use. Surface display was created using images acquired with T1 magnetization prepared rapid acquisition gradient echo (MPRAGE) in 24 cases of migrational defects, cortical dysplasia and prenatal asphyxia. Schizencephaly and cortical dysplasia were pathologically confirmed. The precise configurations of cortical abnormalities, and their relation to the adjacent gyri and sulci were demonstrated. The topography of schizencephalic clefts was clearly defined. The appearance of ulegyria was characteristic and it was sometimes possible to differentiate polymicrogyria from pachygyria.
MINOR MESH HEADINGS: Child-
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Image-Processing,-Computer-Assisted; *Magnetic-Resonance-Imaging
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97271655
UPDATE CODE: 199707
Record 42 of 77 in MEDLINE EXPRESS (R) 1997-1999
TITLE: US case of the day. Open-lip schizencephaly with an area of heterotopic gray matter and associated absence of the septa pellucida.
AUTHOR(S): Patel-AC; Cohen-HL; Hotson-GC
ADDRESS OF AUTHOR: Department of Radiology, State University of New York Health Science Center at Brooklyn 11203, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Radiographics. 1997 Jan-Feb; 17(1): 236-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0271-5333
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Abnormalities-ultrasonography; Choristoma-ultrasonography; Echoencephalography-; Fetal-Diseases-ultrasonography; Infant,-Newborn; Pregnancy-; Septum-Pellucidum-abnormalities; Ultrasonography,-Prenatal
MAJOR MeSH HEADINGS: *Brain-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97170285
UPDATE CODE: 199706
Record 43 of 77 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Schizencephaly: neuroradiologic and epileptologic findings.
AUTHOR(S): Granata-T; Battaglia-G; D'Incerti-L; Franceschetti-S; Spreafico-R; Battino-D; Savoiardo-M; Avanzini-G
ADDRESS OF AUTHOR: Department of Child Neurology, Neurological Institute C. Besta, Milan, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Epilepsia. 1996 Dec; 37(12): 1185-93
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: Nine patients affected by schizencephaly were analyzed, and the epileptologic findings prospectively studied, to define the relations between the anatomic brain malformations and clinical outcome. METHODS: The schizencephaly was diagnosed by means of magnetic resonance imaging (eight cases) or computed tomography (one case). The clinical histories of all the patients were analyzed, and a psychometric evaluation was made. The electroclinical features and course of epilepsy in the six patients with epilepsy were prospectively followed up for a period ranging from 3 to 14 years. RESULTS: The patients were divided into those who were unilaterally (six) and those bilaterally (three) affected. The former were characterized by mild neurologic deficits and late-onset epilepsy; their epileptologic features were consistent in terms of age of onset, seizure semiology, the absence of secondary generalization, and resistance to antiepileptic treatment. The patients with bilateral schizencephaly associated with other brain malformations were characterized by severe neurologic deficits but were only rarely affected by epilepsy, which was always completely controlled by antiepileptic treatment. CONCLUSIONS: Our data show that the extent of anatomic malformation is strictly related to the severity of motor and mental impairment but not to the presence or severity of epilepsy. The absence of prenatal risk factors for brain damage in our series, previously described familial cases of schizencephaly, and the recent report of mutations in homeobox gene EMX2 associated with cases of schizencephaly all indicate that genetic factors may play a key role in the pathogenesis of this brain malformation.
MINOR MESH HEADINGS: Adolescence-; Adult-; Aged-; Brain-pathology; Child-; Electroencephalography-; Epilepsies,-Partial-diagnosis; Epilepsies,-Partial-physiopathology; Epilepsy-physiopathology; Follow-Up-Studies; Laterality-; Magnetic-Resonance-Imaging; Middle-Age; Prospective-Studies; Severity-of-Illness-Index; Sleep-physiology; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-radiography; *Epilepsy-diagnosis
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97115449
UPDATE CODE: 199703
Record 44 of 77 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Coexistence of schizencephaly and intracranial arteriovenous malformation in an infant.
AUTHOR(S): Hung-PC; Wang-HS; Yeh-YS; Lui-TN; Lee-ST
ADDRESS OF AUTHOR: Department of Pediatrics, Chang Gung Medical College, Linkou, Taiwan, Republic of China.
SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1996 Nov-Dec; 17(10): 1921-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A 9-month-old infant had unilateral closed-lip schizencephaly in the right parietal lobe, which coexisted with an arteriovenous malformation in the nearby temporal area. Cranial MR showed a right parietal cleft lined with gray matter between the right lateral ventricle and the subarachnoid space, and cluster hypointensities throughout the right temporal lobe. Cerebral angiography revealed a right temporal arteriovenous malformation with feeding arteries arising from the right middle and posterior cerebral arteries and draining into the right sigmoid sinus via the engorged vein of Labbe.
MINOR MESH HEADINGS: Abnormalities-diagnosis; Brain-pathology; Cerebral-Angiography; Infant-; Intracranial-Arteriovenous-Malformations-complications; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Intracranial-Arteriovenous-Malformations-radiography
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97087940
UPDATE CODE: 199705
Record 45 of 77 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Neuronal migration disorders presenting with mild clinical symptoms.
AUTHOR(S): Gunay-M; Aysun-S
ADDRESS OF AUTHOR: Hacettepe University School of Medicine, Department of Pediatric Neurology, Ankara, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1996 Feb; 14(2): 153-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Two children with neuronal migration disorders and unexpectedly mild clinical symptoms are reported. The first patient was followed with the diagnosis of febrile convulsion and seizures associated with fever for 14 years. Computed tomography scans were normal. Although periodic slow waves of the left parietal cortex were detected on the first two electroencephalograms, his latest examination was normal. Magnetic resonance imaging performed at 16 years of age disclosed a left parietal schizencephaly extending between the parietal cortex and corpus callosum. The second patient was followed with the diagnosis of febrile convulsion for 2 years and later experienced afebrile seizures. On his latest visit, a posterior parietal pachygyric region and a parieto-occipital island heterotopia on the left hemisphere were diagnosed by magnetic resonance imaging. We believe that review of these patients, at the mildest end of the clinical spectrum of neural migration disorders, will contribute to a new understanding of the correlation between clinical and pathologic findings of neuronal migration disorders.
MINOR MESH HEADINGS: Adolescence-; Child-; Electroencephalography-; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Cell-Movement-physiology; *Neurons-pathology; *Seizures,-Febrile-pathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96269074
UPDATE CODE: 199611
Record 46 of 77 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia).
AUTHOR(S): Nuri-Sener-R
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neuroradiol. 1996 Dec; 23(4): 245-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0150-9861
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: It is generally accepted that there are two subsets of septo-optic dysplasia (deMorsier's syndrome), one with schizencephaly and the other without schizencephaly. A third form of the anomaly which is associated with callosal absence has also been described. Except for schizencephaly, the association of septo-optic dysplasia with another major type of disorder of neuronal migration and organization such as cortical dysplasia, has not yet been reported. We report the MR imaging examination of a 3-year-old patient with bilateral rolandic cortical dysplasia, and with apparent thinning of the optic nerves, and absent septum pellucidum (septo-optic dysplasia) as a new combination. This can be labelled as cortico-septo-optic dysplasia.
MINOR MESH HEADINGS: Child,-Preschool; Corpus-Callosum-abnormalities; Kallmann-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Frontal-Lobe-abnormalities; *Magnetic-Resonance-Imaging; *Optic-Nerve-abnormalities; *Septum-Pellucidum-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97261082
UPDATE CODE: 199707
Record 47 of 77 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Septo-optic dysplasia: report of 6 patients studied with MR and discussion on its pathogenesis]
ORIGINAL TITLE: Displasia septo-optica: presentacion de seis pacientes estudiados mediante RM y discusion de su patogenia.
AUTHOR(S): Ramos-Fernandez-JM; Martinez-San-Millan-J; Barrio-Castellano-R; Yturriaga-Matarranz-R; Lorenzo-Sanz-G; Aparicio-Meix-JM
ADDRESS OF AUTHOR: Seccion de Neuropediatria, Hospital Ramon y Cajal, Madrid.
SOURCE (BIBLIOGRAPHIC CITATION): An-Esp-Pediatr. 1996 Dec; 45(6): 614-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0302-4342
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: OBJECTIVE: Septo-optic dysplasia, which consists of the association of the hypoplasia of the optic nerves and the agenesis of the septum pellucidum, is frequently associated with deficiency of hypothalamic releasing factors. In Magnetic Resonance (MR) of these patients, anomalies in the form and size of the pituitary stalk, adenohypophysis and neurohypophysis are found. Some cases show schizencephaly and it has been proposed as an added component of the syndrome by some authors. This fact has been refuted by others. PATIENTS AND METHODS: We present the clinical and neuroanatomic revision of six children with septo-optic dysplasia studied by MR imaging over the last five years in our Department of Neuropediatrics. The aim was, that through the neuroembryological discussion of the morphopathological aspects of the patients, to determine the malformation and the time in which the injury, which was the underlying cause, occurred. RESULTS: From the six cases, in two only disruptive signs were evident with the optic nerves being affected asymmetrically, disruption of the corpus callosum, falx cerebri indemnity and effects in the cortex conformation. This was opposed to the dysgenic features in the other four cases which had no disruptive features. CONCLUSIONS: Our findings suggest that this entity could be the result of at least two different pathogenic processes, that is, a minor form of holoprosencephaly (dysgenesis) or a disruption which, therefore, occurs later in gestation.
MINOR MESH HEADINGS: Child-; Child,-Preschool; English-Abstract; Magnetic-Resonance-Imaging; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-pathology; *Optic-Nerve-abnormalities; *Optic-Nerve-pathology; *Septum-Pellucidum-abnormalities; *Septum-Pellucidum-pathology
CHECKTAGS: English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97164437
UPDATE CODE: 199707
Record 48 of 77 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Schizencephaly: surgical features and new molecular genetic results.
AUTHOR(S): Capra-V; De-Marco-P; Moroni-A; Faiella-A; Brunelli-S; Tortori-Donati-P; Andreussi-I; Boncinelli-E; Cama-A
ADDRESS OF AUTHOR: Servizio di Neurochirurgia, Istituto Scientifico G. Gaslini, Genova, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Pediatr-Surg. 1996 Dec; 6 Suppl 1: 27-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0939-7248
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Schizencephaly is a rare developmental disorder characterized by a full thickness cleft within the cerebral hemispheres. Large portions of the cerebral hemispheres may be missing and are replaced by cerebrospinal fluid (CSF). The walls of the clefts are lined by polymicrogyric grey matter and are covered by the so-called "pialependymal seam". The cleft may be unilateral or bilateral, and if bilateral are fairly symmetrical. Their dimensions can be small or large. The clinical features may vary from a normal to a severe development delay. 13 patients with this anomaly have been evaluated. Using SSCP (single strand conformation polymorphism) analysis, as previously described (2), they were found to have a mutant homeobox gene, Emx2.
MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Abnormalities,-Multiple-surgery; Adolescence-; Brain-pathology; Brain-surgery; Child-; Child,-Preschool; Dominance,-Cerebral-genetics; Dominance,-Cerebral-physiology; DNA-Mutational-Analysis; Genes,-Homeobox-genetics; Homeodomain-Proteins-genetics; Magnetic-Resonance-Imaging; Nerve-Tissue-Proteins-genetics; Neural-Tube-Defects-genetics; Polymorphism,-Single-Stranded-Conformational
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Neural-Tube-Defects-surgery
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0
NAME OF SUBSTANCE: EMX2-protein; Homeodomain-Proteins; Nerve-Tissue-Proteins
MEDLINE ACCESSION NUMBER: 97161606
UPDATE CODE: 199706
Record 49 of 77 in MEDLINE EXPRESS (R) 1994-1996
TITLE: An unusual clinical presentation of bilateral schizencephaly.
AUTHOR(S): Avellanet-M; Mirapeix-RM; Escudero-D; Riera-C; Domenech-Mateu-JM
ADDRESS OF AUTHOR: Service Rehabilitacion, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
SOURCE (BIBLIOGRAPHIC CITATION): Surg-Radiol-Anat. 1996; 18(4): 271-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0930-1038
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We present a case with a characteristic magnetic resonance image (MRI) of bilateral open-lipped schizencephaly and atypical clinical presentation. The patient is still alive and in good health in her forties, she has never presented seizures, and although the motor dysfunction is well correlated with cerebral lobe involvement, neurobehavioral dysfunction is not proportional to the MR image of the cerebral malformation.
MINOR MESH HEADINGS: Adult-; Developmental-Disabilities-etiology; Infant-; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Brain-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97137768
UPDATE CODE: 199705
Record 50 of 77 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Neuroimaging of focal malformations of cortical development.
AUTHOR(S): Barkovich-AJ; Kuzniecky-RI
ADDRESS OF AUTHOR: Neuroradiology Section, University of California, San Francisco, 94143-0628, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Clin-Neurophysiol. 1996 Nov; 13(6): 481-94
INTERNATIONAL STANDARD SERIAL NUMBER: 0736-0258
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Neuroimaging is playing an increasingly important role in the evaluation of patients with malformations of cerebral cortical development. In this review, the authors address optimal neuroimaging of cortical malformations using x-ray computed tomography, single-photon-emission computed tomography, positron emission tomography, magnetic resonance imaging, and magnetic resonance spectroscopy. Initially, the authors discuss the strengths and weaknesses of the various imaging techniques. This is followed by a discussion of the clinical and neuroimaging characteristics of several different imaging manifestations of focal malformations of cortical development, including polymicrogyria, focal subcortical heterotopia, schizencephaly, focally thickened gyri, focally irregular gyri, hemimegalencephaly, and transmural dysplasia. The authors intend that, after reading this review, the reader will have a better understanding of the optimal neuroimaging techniques for evaluating these malformations and their many neuroimaging appearances.
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Cerebral-Cortex-physiopathology; *Magnetic-Resonance-Imaging; *Tomography,-Emission-Computed; *Tomography,-Emission-Computed,-Single-Photon; *Tomography,-X-Ray-Computed
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 97133223
UPDATE CODE: 199705
*SCHIZENCEPHALY (click for non-technical description) [schiz= cracks or splits; encephaly = brain or what's inside (en) the head (cephalon)] refers to abnormal fissures or clefts in the cerebral cortex.Return to ShuffleBrain