Literature search at Indiana University, Bloomington, Indiana
MEDLINE EXPRESS (R) 1990-1994 77 of 144
TI: Acrocallosal syndrome: report of a Brazilian girl.
AU: Guion-Almeida-ML; Richieri-Costa-A
AD: Servico de Genetica Clinica, Hospital de Pesquisa e Reabilitacao de Lesoes Labio-Palatais, Universidade de Sao Paulo, Bauru, Brazil.
SO: Am-J-Med-Genet. 1992 Aug 1; 43(6): 938-41
ISSN: 0148-7299
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a Brazilian girl born to nonconsanguineous parents and presenting with frontonasal dysostosis, callosal agenesis, abnormal upper lids, cleft lip/palate, redundant skin in the neck, grooved chin, and bifid thumbs. Major diagnostic criteria present in this patient are related to the acrocallosal syndrome. The clinical and major nosologic aspects of this condition are discussed.
MESH: Craniofacial-Dysostosis-pathology; Extremities-abnormalities; Genes,-Recessive; Infant-; Phenotype-; Syndrome-
MESH: *Corpus-Callosum-abnormalities; *Craniofacial-Dysostosis-genetics
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93035480
UD: 9301
MEDLINE EXPRESS (R) 1990-1994 78 of 144
TI: Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome.
AU: Guion-Almeida-ML; Richieri-Costa-A
AD: Servico de Genetica Clinica, Hospital de Pesquisa e Reabilitacao de Lesoes Labio-Palatais, Universidade de Sao Paulo, Bauru, Brazil.
SO: Am-J-Med-Genet. 1992 Aug 1; 43(6): 929-31
ISSN: 0148-7299
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a Brazilian boy with Rubinstein-Taybi syndrome (RTS) with callosal agenesis, iris coloboma, and megacolon. To our knowledge, callosal agenesis, iris coloboma, and megacolon are unusual signs within the clinical spectrum of RTS, and the present association is apparently underscribed.
MESH: Child-; Corpus-Callosum-radiography; Hirschsprung-Disease-radiography; Phenotype-; Rubinstein-Taybi-Syndrome-pathology
MESH: *Coloboma-complications; *Corpus-Callosum-abnormalities; *Hirschsprung-Disease-complications; *Iris-abnormalities; *Rubinstein-Taybi-Syndrome-complications
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 93035478
UD: 9301
MEDLINE EXPRESS (R) 1990-1994 79 of 144
TI: The acrocallosal syndrome and Greig syndrome are not allelic disorders.
AU: Brueton-LA; Chotai-KA; van-Herwerden-L; Schinzel-A; Winter-RM
AD: Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex.
SO: J-Med-Genet. 1992 Sep; 29(9): 635-7
ISSN: 0022-2593
PY: 1992
LA: ENGLISH
CP: ENGLAND
AB: Acrocallosal syndrome is an autosomal recessive form of polysyndactyly associated with mental retardation and agenesis of the corpus callosum. There have been suggestions that it is allelic to the Greig cephalopolysyndactyly syndrome. Linkage analysis, using flanking markers, shows this suggestion is unlikely to be correct.
MESH: Alleles-; DNA-Mutational-Analysis; Genetic-Markers; Lod-Score; Pedigree-; Phenotype-; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-7; *Corpus-Callosum-abnormalities; *Fingers-abnormalities; *Hand-Deformities,-Congenital-genetics; *Mental-Retardation-genetics
TG: Comparative-Study; Human
GS: GCPS; GLI3
PT: JOURNAL-ARTICLE
RN: 0
NM: Genetic-Markers
AN: 93020986
UD: 9301
MEDLINE EXPRESS (R) 1990-1994 80 of 144
TI: [Polymicrogyria and ulegyria. Diagnosis by magnetic resonance]
TO: Polimicrogiria y ulegiria. Diagnostico por resonancia magnetica.
AU: Olive-M; Ferrer-I; Arbizu-T; Calopa-M; Ferrer-X; Peres-J
AD: Servicio de Neurologia, Hospital de Bellvitge-Princeps d'Espanya, Barcelona.
SO: Neurologia. 1992 May; 7(5): 117-9
ISSN: 0213-4853
PY: 1992
LA: SPANISH; NON-ENGLISH
CP: SPAIN
AB: Three patients who had had epilepsy since the second decade of life were studied with cranial magnetic resonance (MR). Two patients had no antecedents of interest during pregnancy and the perinatal period and neurological examination was normal. The third patient had had dystocia and presented left hemiparesia since then, with normal intellectual development. None of the cases had any family history of neurological disease. Cranial magnetic resonance was performed in the three patients demonstrating polymicrogyria in two and ulegyria in the other, in addition to other lesions. The first patient presented an unilateral area of polymicrogyria related with a porencephalic cyst in the distal territory of the right sylvian artery and ipsilateral heterotopia of periventricular location. The second patient presented bilateral periventricular heterotopia, partial agenesis of the corpus callosum and an enlarged cisterna magna in addition to bilateral frontal-occipital polymicrogyria. Finally, ulegyria was observed in the third patient in the edges and neighboring regions of a right rolandic porencephalic cyst, as well as an enlarged cisterna magna.
MESH: Adult-; Brain-Diseases-complications; Brain-Diseases-pathology; Cerebral-Cortex-embryology; Cerebral-Cortex-pathology; Cisterna-Magna-abnormalities; Corpus-Callosum-abnormalities; Cysts-complications; Cysts-pathology; English-Abstract; Epilepsy-complications; Hemiplegia-congenital; Hemiplegia-pathology; Middle-Age; Necrosis-
MESH: *Cerebral-Cortex-abnormalities; *Epilepsy-pathology; *Magnetic-Resonance-Imaging
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93001292
UD: 9301
MEDLINE EXPRESS (R) 1990-1994 81 of 144
TI: Agenesis of corpus callosum and intraventricular lipomas.
AU: Vade-A; Horowitz-SW
AD: Department of Radiology, Loyola University Medical Center, Maywood, IL 60153.
SO: Pediatr-Neurol. 1992 Jul-Aug; 8(4): 307-9
ISSN: 0887-8994
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: Intracranial lipomas are rare and usually do not have clinical expression. They are located most commonly in the interhemispheric fissure and may also be found in the quadrigeminal, ambient, chiasmatic, interpeduncular, sylvian, and perimesencephalic cisterns. Interhemispheric lipomas may be associated with choroid plexus lipomas. The ultrasonography, computed tomography, and magnetic resonance imaging findings are reported in a neonate with lateral ventricular choroid plexus lipomas and interhemispheric lipoma associated with agenesis of the corpus callosum.
MESH: Calcinosis-congenital; Calcinosis-diagnosis; Cerebral-Ventricle-Neoplasms-diagnosis; Choroid-Plexus-Neoplasms-congenital; Choroid-Plexus-Neoplasms-diagnosis; Corpus-Callosum-pathology; Echoencephalography-; Follow-Up-Studies; Infant-; Infant,-Newborn; Lipoma-diagnosis; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed
MESH: *Cerebral-Ventricle-Neoplasms-congenital; *Corpus-Callosum-abnormalities; *Diagnostic-Imaging; *Lipoma-congenital
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93000068
UD: 9301
MEDLINE EXPRESS (R) 1990-1994 82 of 144
TI: Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.
AU: van-Balkom-ID; Hagendoorn-J; De-Pater-JM; Hennekam-RC
AD: VU Academisch Ziekenhuis, Amsterdam, The Netherlands.
SO: Genet-Couns. 1992; 3(2): 83-9
ISSN: 1015-8146
PY: 1992
LA: ENGLISH
CP: SWITZERLAND
AB: A female patient with mosaicism for partial monosomy 8p and partial trisomy 8p is presented. Her karyotype is 46,XX, del(8)(p21)/46,XX, dup(8)(p21----pter). She showed minimal dysmorphic features, agenesis of the corpus callosum and moderate developmental delay. There is no previous report of mosaicism for partial monosomy and partial trisomy 8p. The clinical findings in the presently described patient are less severe than those reported in cases with only monosomy or trisomy of the distal part of chromosome 8.
MESH: Child,-Preschool; Corpus-Callosum-abnormalities; Facial-Bones-abnormalities; Karyotyping-
MESH: *Chromosome-Abnormalities-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-8; *Mental-Retardation-genetics; *Monosomy-; *Mosaicism-; *Trisomy-
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 92352703
UD: 9211
MEDLINE EXPRESS (R) 1990-1994 83 of 144
TI: Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?
AU: Naritomi-K; Izumikawa-Y; Nagataki-S; Fukushima-Y; Wakui-K; Niikawa-N; Hirayama-K
AD: Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
SO: Am-J-Med-Genet. 1992 Jul 15; 43(5): 839-43
ISSN: 0148-7299
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: We report on 2 girls with a terminal deletion of the short arm of chromosome X. They had microphthalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum. A comparison of clinical and cytogenetic findings in similar cases suggested that the critical genes for the Goltz and Aicardi syndromes might be contiguous in the region Xp22.31.
MESH: Genes,-Dominant-genetics; Infant-; Syndrome-
MESH: *Chromosome-Deletion; *Corpus-Callosum-abnormalities; *Focal-Dermal-Hypoplasia-genetics; *X-Chromosome
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 92351976
UD: 9211
MEDLINE EXPRESS (R) 1990-1994 84 of 144
TI: The antidepressant effect of carbamazepine in callosal agenesis: a case report.
AU: Rybakowski-J
AD: Department of Psychiatry, Medical Academy, Bydgoszcz, Poland.
SO: Pharmacopsychiatry. 1992 May; 25(3): 154-6
ISSN: 0176-3679
PY: 1992
LA: ENGLISH
CP: GERMANY
AB: A dramatic resolution of severe depressive symptoms following carbamazepine administration in a patient with callosal agenesis is reported. Maintenance treatment with carbamazepine resulted in the alleviation of concomitant organic symptoms and in a marked improvement in quality of vital functions.
MESH: Depressive-Disorder-etiology; Depressive-Disorder-psychology; Middle-Age
MESH: *Carbamazepine-therapeutic-use; *Corpus-Callosum-abnormalities; *Depressive-Disorder-drug-therapy
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
RN: 298-46-4
NM: Carbamazepine
AN: 92342661
UD: 9210
MEDLINE EXPRESS (R) 1990-1994 85 of 144
TI: Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity.
AU: Grubben-C; de-Cock-P; Borghgraef-M; van-den-Berghe-H; Fryns-JP
AD: Centre for Human Genetics, University of Leuven, Belgium.
SO: Clin-Genet. 1992 Jan; 41(1): 16-21
ISSN: 0009-9163
PY: 1992
LA: ENGLISH
CP: DENMARK
AB: We report on three young children, two girls and one boy, with pre- and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, hypotrophy of the distal extremities, small hands and feet, small and widely spaced teeth, eczematous skin, and, in two of them, a partial agenesis of the corpus callosum. To our knowledge this specific combination of features has not been reported before. Since the two girls are sisters and the boy is the product of a consanguineous marriage, the inheritance of this new syndrome appears to be autosomal recessive.
MESH: Child,-Preschool; Consanguinity-; Genes,-Recessive; Muscle-Hypotonia-genetics; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Child-Development-Disorders-genetics; *Corpus-Callosum-abnormalities; *Eczema-genetics; *Extremities-abnormalities; *Mental-Retardation-genetics; *Tooth-Abnormalities-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 92339127
UD: 9210
MEDLINE EXPRESS (R) 1990-1994 86 of 144
TI: Clonidine therapy for Shapiro's syndrome.
AU: Walker-BR; Anderson-JA; Edwards-CR
AD: University of Edinburgh, Department of Medicine, Western General Hospital.
SO: Q-J-Med. 1992 Mar; 82(299): 235-45
ISSN: 0033-5622
PY: 1992
LA: ENGLISH
CP: ENGLAND
AB: Shapiro's syndrome comprises agenesis of the corpus callosum in association with episodic hyperhidrosis and hypothermia. We describe a 25-year-old man who is the twentieth case to be reported. There was no evidence of epilepsy, sympathetic nervous system dysfunction or inappropriate vasopressin release. However, investigation demonstrated a central defect in temperature regulation with an abnormally low hypothalamic set-point and normal homeothermic reflexes. Therapy with clonidine, an alpha 2-adrenoceptor agonist, was associated with remission of symptoms: these recurred on four occasions when clonidine was withdrawn. Clonidine therapy was also associated with a return to normal central temperature regulation. We suggest that the efficacy of clonidine reflects an action on hypothalamic thermoregulation rather than on peripheral catecholamine release. These findings have implications for the use of clonidine in other patients with Shapiro's syndrome and in more common disorders of temperature control, including perimenopausal flushing.
MESH: Adult-; Body-Temperature-Regulation-drug-effects; Hyperhidrosis-physiopathology; Hypothermia-physiopathology; Magnetic-Resonance-Imaging; Naloxone-pharmacology; Syndrome-; Water-Electrolyte-Imbalance-physiopathology
MESH: *Clonidine-therapeutic-use; *Corpus-Callosum-abnormalities; *Hyperhidrosis-drug-therapy; *Hypothermia-drug-therapy
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
RN: 4205-90-7; 465-65-6
NM: Clonidine; Naloxone
AN: 92335483
UD: 9210
MEDLINE EXPRESS (R) 1990-1994 87 of 144
TI: Acallosal brain in sudden infant death syndrome (SIDS).
AU: Patel-F
AD: Department of Forensic Medicine, UMDS Guy's and St. Thomas' Hospitals, University of London, England.
SO: J-Forensic-Sci. 1992 May; 37(3): 873-5
ISSN: 0022-1198
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: A definitive explanation of "crib" or "cot" death remains unknown. An unusual incidental autopsy finding of agenesis of the corpus callosum in a case presenting as "near miss" sudden infant death syndrome (SIDS) is discussed. Hitherto, only a single case associated with SIDS has been reported in the literature. The condition may be easily missed outside the interest in neuropathology.
MESH: Brain-pathology; Brain-Edema-pathology; Infant-; Sudden-Infant-Death-etiology
MESH: *Corpus-Callosum-abnormalities; *Sudden-Infant-Death-pathology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 92333232
UD: 9210
MEDLINE EXPRESS (R) 1990-1994 88 of 144
TI: Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3 [see comments]
CM: Comment in: Ann Genet 1993;36(2):136
AU: Pfeiffer-RA; Legat-G; Trautmann-U
AD: Institut fur Humangenetik, Friedrich-Alexander Universitat, Erlangen-Nurnberg, Germany.
SO: Ann-Genet. 1992; 35(1): 41-6
ISSN: 0003-3995
PY: 1992
LA: ENGLISH
CP: FRANCE
AB: Report on the child of normal unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly "hallux duplex" of both feet, and in addition diabetes insipidus) in which a mirror duplication of nearly the entire short arm of chromosome 12 was discovered. Since the symptomatology of trisomy and tetrasomy 12p shows some overlap with acrocallosal syndrome a common origin of the monogenic disorder and the chromosomal phenotypes is discussed.
MESH: Corpus-Callosum-abnormalities; Foot-Deformities,-Congenital-genetics; Hand-Deformities,-Congenital-genetics; Infant,-Newborn; Karyotyping-; Mental-Retardation-genetics; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-12; *Facial-Bones-abnormalities; *Genes,-Reiterated-genetics; *Skull-abnormalities; *Trisomy-
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 92303988
UD: 9209
MEDLINE EXPRESS (R) 1990-1994 89 of 144
TI: New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum [see comments]
CM: Comment in: Am J Med Genet 1993 Feb 15;45(4):533
AU: Proud-VK; Levine-C; Carpenter-NJ
AD: Department of Child Health, University of Missouri, Columbia.
SO: Am-J-Med-Genet. 1992 Apr 15-May 1; 43(1-2): 458-66
ISSN: 0148-7299
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: We report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered digits with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophris, optic atrophy, broad alveolar ridges and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. Two affected females were less severely impaired and continued to be socially responsive as adults, but had spastic quadriplegia and seizures. One obligate heterozygote was retarded with emotional problems while another obligate carrier female and her daughter were clinically normal. Pedigree analysis suggested X-linked inheritance with variable expression in females. These findings are inconsistent with the well-described X-linked conditions with ACC including FG syndrome and Aicairdi syndrome. ACC has not been described in Coffin-Lowry syndrome, a condition with similar clinical findings, which also demonstrates marked variability of expression in carrier females. In order to assist in carrier determination, brain imaging studies and DNA linkage analysis of the affected relatives was performed. We found a spectrum of agenesis of the corpus callosum with the most severe manifestations in the most severely affected males. DNA analysis using a series of X-linked probes suggests linkage with a LOD score of 1.26 at theta = 0 to a region between p 11.3 and p 21.3.
MESH: Adolescence-; Adult-; Child-; DNA-genetics; Heterozygote-; Linkage-Genetics; Magnetic-Resonance-Imaging; Mental-Retardation-complications; Mental-Retardation-genetics; Microcephaly-complications; Pedigree-; Seizures-complications; Syndrome-; X-Chromosome
MESH: *Corpus-Callosum-abnormalities; *Microcephaly-genetics; *Seizures-genetics
TG: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 9007-49-2
NM: DNA
AN: 92296181
UD: 9209
MEDLINE EXPRESS (R) 1990-1994 90 of 144
TI: Agenesis of the corpus callosum and epilepsy in two brothers. Neurophysiological and MRI features.
AU: Luef-G; Birbamer-G; Marosi-M; Felber-S; Kampfl-A; Aichner-F; Bauer-G
AD: Department of Neurology, University of Innsbruck.
SO: Wien-Klin-Wochenschr. 1992; 104(10): 301-4
ISSN: 0043-5325
PY: 1992
LA: ENGLISH
CP: AUSTRIA
AB: We report on two brothers with partial agenesis of the corpus callosum and seizure disorder presumably related to ectopic grey matter. Development of both patients was characterized by psychomotor retardation and focal epileptic seizures. Genetic examination revealed normal karyotypes. One brother showed a remarkable focal miniature spike and wave periodicity constantly observed on sequential EEG records. Magnetic resonance imaging revealed partial agenesis of the corpus callosum and ectopic grey matter. Prior computerized tomography failed to visualize ectopic grey matter and overestimated corpus callosum agenesis. The heterotopic grey matter, isolated from the surrounding inhibiting influences, is the most probable source of focal seizures and the partial connection of both hemispheres may explain secondary generalization of seizures.
MESH: Adult-; Brain-; Brain-Neoplasms-genetics; Brain-Neoplasms-physiopathology; Cerebral-Cortex-physiopathology; Choristoma-genetics; Choristoma-physiopathology; Corpus-Callosum-physiopathology; Epilepsy,-Partial-physiopathology; Epilepsy,-Tonic-Clonic-physiopathology
MESH: *Corpus-Callosum-abnormalities; *Electroencephalography-; *Epilepsy,-Partial-genetics; *Epilepsy,-Tonic-Clonic-genetics; *Magnetic-Resonance-Imaging
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 92295643
UD: 9209
MEDLINE EXPRESS (R) 1990-1994 91 of 144
TI: [Interhemispheric arachnoid cyst; report of three cases]
AU: Hirohata-M; Matsuo-H; Miyagi-J; Kajihara-K; Shigemori-M; Kuramoto-S
AD: Department of Neurosurgery, Kurume University School of Medicine, Japan.
SO: No-Shinkei-Geka. 1992 Jun; 20(6): 701-5
ISSN: 0301-2603
PY: 1992
LA: JAPANESE; NON-ENGLISH
CP: JAPAN
AB: Three operated cases of the interhemispheric arachnoid cyst were reported. Case 1: a 58-year-old female suffering from progressive right hemi-rigidity and gait disturbance for the past two years. Case 2: a 66-year-old female was admitted with chronic headache. MRI demonstrated a large interhemispheric cyst in these two patients. Case 3: a 6-month-old male had frequent episodes of tonic seizure. MRI demonstrated interhemispheric cyst and agenesis of the anterior part of corpus callosum. The resection of the cystic wall via the interhemispheric approach was performed for all cases. General convulsive seizure developed in the early stage following operation in case 1 and case 2, in spite of routine administration of prophylactic anticonvulsant. The seizures were well controlled thereafter. In all cases, the cyst disappeared on the follow up CT. Simple resection of cyst wall is effective in the surgical treatment of interhemispheric arachnoid cysts.
MESH: Aged-; Arachnoid-Cysts-diagnosis; Arachnoid-Cysts-pathology; Corpus-Callosum-pathology; English-Abstract; Infant-; Magnetic-Resonance-Imaging; Middle-Age
MESH: *Arachnoid-Cysts-surgery
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 92293424
UD: 9209
MEDLINE EXPRESS (R) 1990-1994 92 of 144
TI: Unlayered polymicrogyria and agenesis of the corpus callosum: a relevant association?
AU: Billette-de-Villemeur-T; Chiron-C; Robain-O
AD: INSERM U 29, Laboratoire de Neuropathologie, Hopital Saint Vincent de Paul, Paris, France.
SO: Acta-Neuropathol-Berl. 1992; 83(3): 265-70
ISSN: 0001-6322
PY: 1992
LA: ENGLISH
CP: GERMANY
AB: Three anatomical cases of unlayered polymicrogyria associated with agenesis of the corpus callosum and heterotopias are presented. The cortical dysplasia includes: (1) thin unlayered cortical mantle with radial disposition but no horizontal organisation of the neurons; (2) microgyria with fused molecular layers; and (3) persisting transitory cells in the molecular layer (Cajal-Retzius cells, subpial granular layer). A Golgi study of the cortex in one case shows abnormal orientation of the neuronal dendritic tree in the superficial area along the fused molecular layers. Heterotopias are of two types: scattered neurons in the subcortical region and in layer I; and nodular heterotopias in the paraventricular region and in centrum semi ovale. This type of cortical dysplasia differs from the classical four-layered microgyria and is similar to the cortical anomalies described in Aicardi syndrome. One case presented here has Aicardi syndrome, while the two others, one girl and one boy, do not meet the criteria for Aicardi syndrome; in particular, they do not display chorioretinal lacunae. Nevertheless, this neuropathological association is responsible for severe mental retardation and epilepsy, and incites the search for a genetic origin like that in Aicardi syndrome.
MESH: Abnormalities,-Multiple-pathology; Cerebral-Cortex-pathology; Choroid-Diseases-pathology; Corpus-Callosum-pathology; Infant-; Infant,-Newborn; Mental-Retardation-pathology; Retinal-Diseases-pathology; Seizures-pathology; Spasm-pathology; Syndrome-
MESH: *Abnormalities,-Multiple; *Cerebral-Cortex-abnormalities; *Corpus-Callosum-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 92214077
UD: 9207
MEDLINE EXPRESS (R) 1990-1994 93 of 144
TI: Partial trisomy 6p with agenesis of the corpus callosum and choanal atresia [letter] [see comments]
CM: Comment in: J Child Neurol 1992 Oct;7(4):463-4
AU: Katafuchi-Y; Fukuda-T; Maruoka-T; Tokunaga-Y; Yamashita-Y; Matsuishi-T
SO: J-Child-Neurol. 1992 Jan; 7(1): 114-6
ISSN: 0883-0738
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
MESH: Infant,-Newborn
MESH: *Choanal-Atresia-genetics; *Chromosomes,-Human,-Pair-6; *Corpus-Callosum-abnormalities; *Translocation-Genetics-genetics; *Trisomy-
TG: Case-Report; Human; Male
PT: LETTER
AN: 92202624
UD: 9207
MEDLINE EXPRESS (R) 1990-1994 94 of 144
TI: Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence.
AU: Fischer-M; Ryan-SB; Dobyns-WB
AD: Department of Neurology, Medical College of Wisconsin, Milwaukee 53226.
SO: Arch-Neurol. 1992 Mar; 49(3): 271-7
ISSN: 0003-9942
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: We investigated interhemispheric transfer and cognitive function in two boys with normal intelligence in whom agenesis of the corpus callosum was identified following minor head trauma. In patient 1, magnetic resonance imaging scan showed agenesis of the corpus callosum and absent anterior commissure. Results of visual interhemispheric transfer tasks suggested degradation in transfer of information to the left hemisphere. Results of a tactile interhemispheric transfer task suggested degradation of access to the right hemisphere. In patient 2, magnetic resonance imaging scan showed agenesis of the corpus callosum and enlarged anterior commissure. Results for both visual and tactile interhemispheric transfer tasks were normal. Dichotic listening tests showed a slight left ear advantage in both patients. These results support the hypothesis that hypertrophy of the anterior commissure is an important mechanism of functional compensation in agenesis of the corpus callosum. However, the relative subtlety of deficits in patient 1 and results of dichotic listening tests support use of other mechanisms as well. No consistent pattern of cognitive deficits was observed.
MESH: Auditory-Perception-physiology; Child-; Cognition-physiology; Corpus-Callosum-physiology; Laterality-; Neuropsychological-Tests; Touch-physiology; Visual-Perception-physiology
MESH: *Brain-physiology; *Corpus-Callosum-abnormalities; *Intelligence-
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 92161964
UD: 9205
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 95 of 144
TI: New case of Toriello-Carey syndrome.
AU: Lacombe-D; Creusot-G; Battin-J
AD: Clinique de Pediatrie et Genetique Medicale, Hopital des Enfants, Bordeaux, France.
SO: Am-J-Med-Genet. 1992 Feb 1; 42(3): 374-6
ISSN: 0148-7299
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: A new syndrome was identified by Toriello and Carey (Am J Med Genet 31:17-23, 1988), based on the description of four children, three of whom were sibs. The main manifestations included agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia. We describe findings in a patient, presumed to be another case of the Toriello-Carey syndrome, which extend the phenotype of the syndrome.
MESH: Abnormalities,-Multiple-genetics; Infant,-Newborn; Phenotype-; Syndrome-
MESH: *Abnormalities,-Multiple; *Corpus-Callosum-abnormalities; *Face-abnormalities
TG: Case-Report; Comparative-Study; Human; Male
PT: JOURNAL-ARTICLE
AN: 92160843
UD: 9205
MEDLINE EXPRESS (R) 1990-1994 96 of 144
TI: Tuberous sclerosis, agenesis of the corpus callosum and Lennox-Gastaut syndrome: mere chance or a new syndrome?
AU: DeMarco-P
AD: Department of Child Neurology, Centro Angeli Custodi, Istituti Ospedalieri, Trento, Italy.
SO: Clin-Electroencephalogr. 1992 Jan; 23(1): 7-9
ISSN: 0009-9155
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: The relationship between tuberous sclerosis (TS) and epilepsy on one hand and between agenesis of the corpus callosum (ACC) and epilepsy on the other has been recognized for a long time. Until now, a syndrome characterized by TS, ACC and Lennox-Gastaut syndrome (LGS) has not been described in the literature. Three cases of children, all young male patients, who suffer from TS, ACC and LGS, were presented. The ACC was total in two cases and partial in the third. None of the subjects previously had West syndrome. Two cases showed a slight degree of mental deficiency, while in the third it was very pronounced. In all subjects tonic and astatic seizures were frequent. Antiepileptic therapy improved the clinical picture in one case, while in the other two it remained unchanged.
MESH: Adolescence-; Brain-radiography; Child-; Corpus-Callosum-radiography; Electroencephalography-; Epilepsy-physiopathology; Syndrome-; Tomography,-X-Ray-Computed; Tuberous-Sclerosis-radiography
MESH: *Corpus-Callosum-abnormalities; *Epilepsy-complications; *Tuberous-Sclerosis-complications
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 92127810
UD: 9205
MEDLINE EXPRESS (R) 1990-1994 97 of 144
TI: Giant interhemispheric cysts associated with agenesis of the corpus callosum.
AU: Mori-K
AD: Department of Neurosurgery, Kochi Medical School, Nankoku City, Japan.
SO: J-Neurosurg. 1992 Feb; 76(2): 224-30
ISSN: 0022-3085
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: Interhemispheric cysts, often associated with agenesis of the corpus callosum, are rare lesions demonstrating little uniformity of pathogenesis. Four large interhemispheric cystic lesions with several unique features are reviewed. Magnetic resonance imaging clearly showed agenesis of the corpus callosum and was useful in the diagnosis of interhemispheric cysts. The differential diagnosis of these lesions is discussed, along with therapeutic considerations.
MESH: Brain-Diseases-diagnosis; Brain-Diseases-surgery; Child,-Preschool; Cysts-diagnosis; Cysts-surgery; Infant-; Middle-Age; Tomography,-X-Ray-Computed
MESH: *Brain-Diseases-etiology; *Corpus-Callosum-abnormalities; *Cysts-etiology; *Magnetic-Resonance-Imaging
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 92113651
UD: 9204
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 98 of 144
TI: Corpus callosum agenesis and psychosis in Andermann syndrome.
AU: Filteau-MJ; Pourcher-E; Bouchard-RH; Baruch-P; Mathieu-J; Bedard-F; Simard-N; Vincent-P
AD: Unite de Neuropsychopharmacologie, Hopital de l'Enfant-Jesus, Quebec, Canada.
SO: Arch-Neurol. 1991 Dec; 48(12): 1275-80
ISSN: 0003-9942
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: Recent illustrations by cerebral magnetic resonance imaging of anomalies of the corpus callosum in schizophrenics have kindled renewed interest in this association. We studied 62 patients affected by the Andermann syndrome, a polymalformative familial syndrome combining frequent congenital corpus callosum agenesis, mental retardation, psychotic episodes, peripheral neuropathy, and some dysmorphic features. Twenty of 62 patients presenting with psychosis were compared with 20 nonpsychotic patients matched according to sex and age. The psychotic patients presented an atypical psychosis as defined by the Diagnostic and Statistical Manual of Mental Disorders, Third Edition, beginning in postadolescence. No significant relationship was observed between corpus callosum agenesis and psychosis. However, a significant association between posterior fossa atrophy and psychosis was established in our study. Although there are limitations in using cross-sectional data for this purpose, the findings suggest an association between cerebellar anomalies and schizophrenialike syndrome and rule out an implication of developmental callosal defects in such psychiatric disorders.
MESH: Abnormalities-radiography; Adolescence-; Adult-; Child-; Child,-Preschool; Schizophrenia-diagnosis; Syndrome-
MESH: *Corpus-Callosum-abnormalities; *Mental-Retardation-diagnosis; *Peripheral-Nervous-System-Diseases-diagnosis; *Psychotic-Disorders-diagnosis
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93263833
UD: 9308
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 99 of 144
TI: Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors.
AU: Hamano-K; Matsubara-T; Shibata-S; Hirano-C; Ito-Z; Ase-Y; Kusakari-J; Takita-H
AD: Department of Pediatrics, University of Tsukuba, Ibaraki, Japan.
SO: Brain-Dev. 1991 Nov; 13(6): 438-41
ISSN: 0387-7604
PY: 1991
LA: ENGLISH
CP: JAPAN
AB: We described a 5-month-old girl with Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. She was admitted to our hospital because she suffered from intractable flexor spasms. Physical examination revealed craniofacial asymmetry, left auricular deformity, scoliosis, and remarkable hypotonia with psychomotor retardation. Abnormal ophthalmological findings included chorioretinopathy with pale and round-shaped peripapillary lacunae, and there was modified hypsarrhythmia in her EEG. MRI revealed multiple brain tumors in the 3rd and the lateral ventricles which are considered to be choroid plexus papilloma with agenesis of the corpus callosum. ACTH therapy was administered because of the intractable seizures. After ACTH therapy, the thresholds of waves I and V were much improved. The interpeak latency of waves I-V of the left ear and the peak latency of wave I of the right ear had been lengthened. Acoustic reflex with contralateral stimulation showed no response in the left ear. These findings indicate that the auditory system is also involved in the Aicardi syndrome and that ACTH is effective for its dysfunction.
MESH: Acoustic-Impedance-Tests; Audiometry-; Brain-Neoplasms-pathology; Corpus-Callosum-pathology; Corticotropin-pharmacology; Hearing-Disorders-pathology; Infant-; Magnetic-Resonance-Imaging; Reflex-physiology; Syndrome-
MESH: *Brain-Neoplasms-congenital; *Corpus-Callosum-abnormalities; *Hearing-Disorders-congenital
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
RN: 9002-60-2
NM: Corticotropin
AN: 92238552
UD: 9207
MEDLINE EXPRESS (R) 1990-1994 100 of 144
TI: Further delineation of the acrocallosal syndrome.
AU: Gelman-Kohan-Z; Antonelli-J; Ankori-Cohen-H; Adar-H; Chemke-J
AD: Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.
SO: Eur-J-Pediatr. 1991 Sep; 150(11): 797-9
ISSN: 0340-6199
PY: 1991
LA: ENGLISH
CP: GERMANY
AB: The acrocallosal syndrome (ACS) was recognized by Schinzel in 1979 as a specific entity, characterized by the association of craniofacial anomalies, total or partial agenesis of corpus callosum, polysyndactyly and mental retardation. The inheritance is autosomal recessive, based on instances of recurrence in siblings and cousins and parental consanguinity. A large inbred kindred with recurrent ACS is presented. This family further strengthens the hypothesis of autosomal recessive inheritance for this syndrome. The array of clinical manifestations in this sibship and those previously reported exemplify the phenomenon of inter- and intrafamilial variability that must be considered when defining ACS. Based on a review of published reports and the present family, essential, additional and occasional findings are distinguished. Attention is drawn to geographical clustering of the families.
MESH: Infant-; Pedigree-; Phenotype-; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Corpus-Callosum-abnormalities; *Facial-Bones-abnormalities; *Syndactyly-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 92070373
UD: 9203
MEDLINE EXPRESS (R) 1990-1994 101 of 144
TI: Diffuse neonatal hemangiomatosis: a new constellation of findings.
AU: Geller-JD; Topper-SF; Hashimoto-K
AD: Department of Dermatology and Syphilology, Wayne State University School of Medicine, Detroit, MI.
SO: J-Am-Acad-Dermatol. 1991 May; 24(5 Pt 2): 816-8
ISSN: 0190-9622
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: Diffuse neonatal hemangiomatosis is a rare, frequently fatal disease characterized by multiple cutaneous and visceral hemangiomas. The skin, liver, lungs, intestines, and central nervous system are the most commonly affected organs. Death can result from high-output cardiac failure as a result of arteriovenous shunting. In this report we present a new constellation of findings in a patient with diffuse neonatal hemangiomatosis, namely, an absent corpus callosum, ectopia cordis (sternal agenesis) with median abdominal raphe, and tricuspid atresia.
MESH: Abdominal-Muscles-abnormalities; Abnormalities,-Multiple; Corpus-Callosum-abnormalities; Heart-Defects,-Congenital-pathology; Infant,-Newborn; Tricuspid-Valve-abnormalities
MESH: *Hemangioma-congenital; *Neoplasms,-Multiple-Primary-congenital; *Skin-Neoplasms-congenital
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 91268300
UD: 9109
web contact: pietsch@indiana.edu