Literature search at Indiana University, Bloomington, Indiana
MEDLINE EXPRESS (R) 1990-1994 41 of 144
TI: [Partial epilepsy and corpus callosum involvement]
TO: Epilepsie partielle et lesions du corps calleux.
AU: Gastaut-JL; Bartolomei-F
AD: Hopital Sainte-Marguerite, Marseille.
SO: Rev-Neurol-Paris. 1993; 149(6-7): 416-8
ISSN: 0035-3787
PY: 1993
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: We report two cases of partial complex epilepsy associated with a lesion of the corpus callosum: a cavernoma in one case and a lesion of undetermined nature in the other. Similar cases have already been reported, notably with lipomas or agenesis of the corpus callosum, but they remain exceptional. Two mechanisms could explain such epilepsies: either the lesion extends to the cingulate gyrus whence the epileptic discharge may reach internal temporal structures (our case n. 1), or a temporal focus becomes autonomic after interruption of inhibitory callosal fibres (our case n. 2).
MESH: Adult-; Brain-Neoplasms-diagnosis; Carbamazepine-therapeutic-use; English-Abstract; Epilepsy,-Partial-diagnosis; Epilepsy,-Partial-drug-therapy; Hemangioma,-Cavernous-diagnosis; Magnetic-Resonance-Imaging
MESH: *Brain-Neoplasms-complications; *Corpus-Callosum; *Epilepsy,-Partial-etiology; *Hemangioma,-Cavernous-complications
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
RN: 298-46-4
NM: Carbamazepine
AN: 94135113
UD: 9405
MEDLINE EXPRESS (R) 1990-1994 42 of 144
TI: Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy [published erratum appears in Neuropediatrics 1993 Aug;24(4):239] [see comments]
CM: Comment in: Neuropediatrics 1993 Aug;24(4):239
AU: Hauser-E; Bittner-R; Liegl-C; Bernert-G; Zeitlhofer-J
AD: Department of Pediatrics, University of Vienna, Austria.
SO: Neuropediatrics. 1993 Apr; 24(2): 107-10
ISSN: 0174-304X
PY: 1993
LA: ENGLISH
CP: GERMANY
AB: We report on two siblings, a boy and a girl, with agenesis of corpus callosum and neuronopathy. The children show diffuse hypotonia, delayed motor and mental development. Neurophysiological examinations revealed reduction of the motor nerve conduction velocity, absence of sensory nerve action potentials, abnormal somatosensory and visual evoked potentials. Nerve biopsies showed reduced density of myelinated and unmyelinated fibres in both children. We also found signs of hypomyelination and suggest this is secondary to degeneration of peripheral sensory and motor neurons. Our findings are consistent with the diagnosis of Andermann syndrome. This is the first report of the occurrence of Andermann syndrome out of French Canada.
MESH: Axons-ultrastructure; Biopsy-; Canada-; Child,-Preschool; Chromosome-Abnormalities; Demyelinating-Diseases-diagnosis; Evoked-Potentials,-Somatosensory; Evoked-Potentials,-Visual; Magnetic-Resonance-Imaging; Mental-Retardation-diagnosis; Muscle-Hypotonia-diagnosis; Muscle-Hypotonia-etiology
MESH: *Corpus-Callosum-abnormalities; *Demyelinating-Diseases-complications; *Mental-Retardation-etiology; *Syndrome-
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93317101
UD: 9310
MEDLINE EXPRESS (R) 1990-1994 43 of 144
TI: Magnetic resonance imaging of the fetus: a study of 20 cases performed without curarization.
AU: Revel-MP; Pons-JC; Lelaidier-C; Fournet-P; Vial-M; Musset-D; Labrune-M; Frydman-R
AD: Department of Radiology, A. Beclere Hospital, Clamart, France.
SO: Prenat-Diagn. 1993 Sep; 13(9): 775-99
ISSN: 0197-3851
PY: 1993
LA: ENGLISH
CP: ENGLAND
AB: Twenty patients underwent magnetic resonance imaging (MRI) at a mean gestational age of 32 weeks. There were 12 patients with suspected fetal brain abnormality and four with intrauterine growth retardation (IUGR), while the remaining four cases were studied for other reasons. The MRI examinations were performed on a 0.5 Tesla machine, with surface coils. One minute acquisition time T1 sequences were used. All the studies were performed without fetal curarization, and only under maternal sedation using flunitrazepam given per os 1 h before MRI examination. Three examinations were incomplete because of fetal movement artefacts. In the remaining cases, MRI allowed the examination of fetal brain anatomy. In five cases, it helped to differentiate isolated hydrocephalus and corpus callosum agenesis. Sub-ependymal nodules were depicted in a case of fetal tuberous sclerosis. One suspected arachnoid cyst was proved to be an ultrasound artefact. Decreased fetal fat on MR images was correlated with low birth weight in cases of IUGR. Due to its better spatial resolution, ultrasonography was more accurate for the diagnosis of facial and lumbar anomalies. Fetal MRI may be performed without curarization. Surface coils allow the detailed analysis of brain parenchyma, and thus MRI is especially useful in the difficult prenatal diagnosis of fetal brain abnormalities.
MESH: Adipose-Tissue-pathology; Corpus-Callosum-abnormalities; Curare-; Fetal-Growth-Retardation-diagnosis; Fetal-Movement; Flunitrazepam-; Head-and-Neck-Neoplasms-diagnosis; Hernia,-Diaphragmatic-diagnosis; Hydrocephalus-diagnosis; Lymphangioma,-Cystic-diagnosis; Mandibulofacial-Dysostosis-diagnosis; Meningocele-diagnosis; Myelin-Sheath-physiology; Pregnancy-; Pregnancy-Trimester,-Third; Tuberous-Sclerosis-diagnosis; Ultrasonography,-Prenatal
MESH: *Brain-pathology; *Fetal-Diseases-diagnosis; *Magnetic-Resonance-Imaging-methods; *Prenatal-Diagnosis
TG: Comparative-Study; Female; Human
PT: JOURNAL-ARTICLE
RN: 1622-62-4; 8063-06-7
NM: Flunitrazepam; Curare
AN: 94105068
UD: 9404
MEDLINE EXPRESS (R) 1990-1994 44 of 144
TI: Magnetic resonance imaging features of congenital anophthalmia.
AU: Daxecker-F; Felber-S
AD: Department of Ophthalmology, University of Innsbruck, Austria.
SO: Ophthalmologica. 1993; 206(3): 139-42
ISSN: 0030-3755
PY: 1993
LA: ENGLISH
CP: SWITZERLAND
AB: Congenital anophthalmia (CA) is a rare malformation. Primary forms without development of optic nerves can be differentiated from secondary forms with rudimentary optic nerves and eye bulbi. Neuroradiologic examinations in these children are performed to differentiate primary from secondary forms and to exclude associated cerebral malformations. We report on 2 children with secondary CA, a 9-month-old girl with unilateral CA and a 3-year-old boy with bilateral CA. Magnetic resonance imaging (MRI) was superior to computerized tomography (CT) in the delineation of the rudimentary optic nerves and tracts as well as the intraorbital contents. In addition magnetic resonance images revealed partial agenesis of the corpus callosum and microgyria of the calcarine cortex in the boy. These results suggest that MRI should replace CT in the diagnosis of CA.
MESH: Child,-Preschool; Corpus-Callosum-abnormalities; Infant-; Magnetic-Resonance-Imaging-methods; Neuroglia-pathology; Optic-Chiasm-abnormalities; Optic-Nerve-abnormalities; Tomography,-X-Ray-Computed; Visual-Cortex-abnormalities
MESH: *Anophthalmos-diagnosis
TG: Case-Report; Comparative-Study; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94097667
UD: 9404
MEDLINE EXPRESS (R) 1990-1994 45 of 144
TI: Corpus callosum agenesis in two male infants of a heterozygotic triplet pregnancy [letter]
AU: Vles-JS; de-Die-Smulders-C; van-der-Hoeven-M; Fryns-JP
SO: Genet-Couns. 1993; 4(3): 239-40
ISSN: 1015-8146
PY: 1993
LA: ENGLISH
CP: SWITZERLAND
MESH: Corpus-Callosum-radiography; Follow-Up-Studies; Infant-; Infant,-Newborn; Tomography,-X-Ray-Computed; Triplets-
MESH: *Abnormalities,-Multiple-diagnosis; *Child-Development-Disorders-diagnosis; *Corpus-Callosum-abnormalities; *Muscle-Hypertonia-diagnosis; *Reflex,-Abnormal
TG: Case-Report; Female; Human; Male
PT: LETTER
AN: 94092404
UD: 9404
MEDLINE EXPRESS (R) 1990-1994 46 of 144
TI: Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
AU: Donnai-D; Barrow-M
AD: Regional Genetic Service, St Mary's Hospital, Manchester, United Kingdom.
SO: Am-J-Med-Genet. 1993 Oct 1; 47(5): 679-82
ISSN: 0148-7299
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We describe unrelated male and female patients with an identical syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. One child had an iris coloboma. After the birth of the first affected child in each family subsequent pregnancies were monitored with ultrasound scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinct, previously unreported syndrome with likely autosomal recessive inheritance.
MESH: Abnormalities,-Multiple-genetics; Child,-Preschool; Coloboma-genetics; Genes,-Recessive; Infant-; Iris-abnormalities; Syndrome-
MESH: *Corpus-Callosum-abnormalities; *Deafness-genetics; *Hernia,-Diaphragmatic-genetics; *Hernia,-Umbilical-genetics; *Hypertelorism-genetics; *Myopia-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94091361
UD: 9403
MEDLINE EXPRESS (R) 1990-1994 47 of 144
TI: Cortical axon trajectories and growth cone morphologies in fetuses of acallosal mouse strains.
AU: Ozaki-HS; Wahlsten-D
AD: Department of Psychology, University of Alberta, Edmonton, Canada.
SO: J-Comp-Neurol. 1993 Oct 22; 336(4): 595-604
ISSN: 0021-9967
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: Hereditary absence of the corpus callosum (CC) provides an ideal experiment of nature for exploring mechanisms of axon guidance. In this study the prenatal development of CC axons in the acallosal mouse strains BALB/cWah1 and 129/ReJ or J was compared with normal hybrid mice by using the lipophilic dyes DiI and DiA. A few I/LnJ mice were also examined. The time of emergence and growth rate of CC axons from four cortical regions (frontal, parietal, temporal, occipital) were normal in acallosal strains. Their CC axons arrived at midplane on schedule but then often looped back to form the longitudinal Probst bundle. The frequency of formation of the Probst bundle was highest for axons from frontal cortex, which arrived at midplane first, and lowest for occipital axons, which arrived last. Once a few CC axons found a path to the other side via the hippocampal commissure, those that arrived later then crossed relatively normally. Some axons from the Probst bundle also managed to traverse midline in this manner. When no CC axons crossed, almost all of them entered the Probst bundle and eventually left it within a few hours to proceed in the ipsilateral white matter, never turning back toward midplane. Growth cones approaching midplane ipsilaterally and those that had crossed midline and entered contralateral white matter, as well as CC axons in the Probst bundle, expressed a normal range of size and complexity. These results demonstrate that the problem with callosal agenesis resides not in the cells of origin or the axons or growth cones themselves but in the substrates of axon guidance at the midsagittal plane.
MESH: Body-Weight; Cerebral-Cortex-cytology; Cerebral-Cortex-embryology; Histocytochemistry-; Mice-; Mice,-Inbred-BALB-C; Mice,-Neurologic-Mutants; Neural-Pathways-cytology; Neural-Pathways-growth-and-development; Pregnancy-; Stains-and-Staining
MESH: *Axons-physiology; *Cerebral-Cortex-physiology; *Corpus-Callosum-abnormalities
TG: Animal; Female; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 94064913
UD: 9403
MEDLINE EXPRESS (R) 1990-1994 48 of 144
TI: [Agenesis of the corpus callosum and epilepsy. 26 cases]
TO: Agenesie du corps calleux et epilepsie. 26 cas.
AU: Septien-L; Gras-P; Giroud-M; Martin-D; Binnert-D; Dumas-R
AD: Service de Neurologie, CHU Dijon.
SO: Rev-Neurol-Paris. 1993; 149(4): 257-61
ISSN: 0035-3787
PY: 1993
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: Agenesis of the corpus callosum is a cerebral malformation diagnosed by CT scan. Beside mental retardation, the most frequent clinical manifestation is epilepsy. In a personal study of 26 cases, the authors analysed the clinical features of epileptic seizures observed with this malformation. They put the stress on the paradoxical presence of generalized seizures.
MESH: Abnormalities,-Multiple; Adolescence-; Adult-; Brain-radiography; Child-; Child,-Preschool; Corpus-Callosum-pathology; English-Abstract; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed
MESH: *Corpus-Callosum-abnormalities; *Epilepsy-etiology; *Mental-Retardation-etiology
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94053245
UD: 9402
MEDLINE EXPRESS (R) 1990-1994 49 of 144
TI: [Cognitive functions in agenesis of the corpus callosum]
TO: Estudio de las funciones superiores en la agenesia del cuerpo calloso.
AU: Perez-Trullen-JM; Modrego-Pardo-PJ; Vazquez-Andre-ML; Pascual-ML; Liano-H
AD: Servicio de Neurologia, Clinica Puerta de Hierro, Madrid.
SO: Rev-Clin-Esp. 1993 Sep; 193(4): 179-81
ISSN: 0014-2565
PY: 1993
LA: SPANISH; NON-ENGLISH
CP: SPAIN
AB: Four patients with agenesis of the corpus callosum diagnosed through neuroradiologic tests has been studied, from the upper cerebral functions point of view. Three had consulted because of seizure, and the other because of cerebellar hemorrhage. Multiple fields of the cognitive functions were examined and the presence of an interhemispheric disconnection syndrome was investigated. All tests were absolutely normal in the four patients. We discuss clinical and radiologic aspects as well as other associated malformations.
MESH: Adolescence-; Adult-; Child-; English-Abstract
MESH: *Corpus-Callosum-abnormalities; *Corpus-Callosum-physiology; *Intelligence-
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94052927
UD: 9402
MEDLINE EXPRESS (R) 1990-1994 50 of 144
TI: Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy [letter; comment]
CM: Comment on: Neuropediatrics 1993 Apr;24(2):107-10
AU: Battistella-PA
SO: Neuropediatrics. 1993 Aug; 24(4): 239
ISSN: 0174-304X
PY: 1993
LA: ENGLISH
CP: GERMANY
MESH: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-genetics; Child-; Italy-; Motor-Neuron-Disease-diagnosis; Syndrome-
MESH: *Anterior-Horn-Cells-physiology; *Corpus-Callosum-abnormalities; *Mental-Retardation-genetics; *Motor-Neuron-Disease-genetics; *Paraplegia-genetics; *Reflex,-Abnormal-genetics
TG: Case-Report; Human; Male
PT: COMMENT; LETTER
AN: 94050421
UD: 9402
MEDLINE EXPRESS (R) 1990-1994 51 of 144
TI: Hemispheric control of unilateral and bilateral responses to lateralized light stimuli after callosotomy and in callosal agenesis.
AU: Aglioti-S; Berlucchi-G; Pallini-R; Rossi-GF; Tassinari-G
AD: Istituto di Fisiologia umana, Universita di Verona, Italy.
SO: Exp-Brain-Res. 1993; 95(1): 151-65
ISSN: 0014-4819
PY: 1993
LA: ENGLISH
CP: GERMANY
AB: Normally, simple digital or manual responses to a light stimulus in the right or left visual hemifields are performed faster with uncrossed hand-field combinations than with crossed hand-field combinations. Because of the organization of visual and motor pathways, the integration of uncrossed responses is assumed to occur within a single hemisphere, whereas a time-consuming interhemispheric transfer via the corpus callosum is considered to be necessary for the integration of crossed responses. However, callosal transfer may be dispensable for those crossed responses which can be controlled through ipsilaterally descending motor pathways by the hemisphere receiving the visual stimulus. We investigated crossed-uncrossed differences (CUDs) in speed of simple visuomotor responses to lateralized flashes in one subject with total section of the corpus callosum and two subjects with complete callosal agenesis. We recorded the reaction times as well as the premotor times, as indicated by the electromyographic latencies of the prime movers, of three types of responses: a distal response involving a thumb flexion, a proximal response chiefly involving a forearm flexion and an axial response involving a shoulder elevation. Further, the three types of responses to a single lateralised flash were performed both unilaterally and bilaterally. The three acallosal subjects showed CUDs greatly exceeding normal values on distal responses, either unilateral or bilateral, and on unilateral proximal responses. These abnormally long CUDs stood in sharp contrast to the insignificant CUDs exhibited by the same subjects on bilateral proximal responses and on unilateral and bilateral axial responses in agreement with correspondingly insignificant CUDs reported for normal subjects. These results confirm that a callosal contribution is important for the execution of fast distal and unilateral proximal responses to a visual stimulus directed to the hemisphere ipsilateral to the responding hand. By contrast, the other types of crossed responses appear to be efficiently coordinated across the midline without the aid of the corpus callosum. This is in keeping with the hypothesis that they are governed by a bilaterally distributed motor system which is preferentially activated for the execution of symmetrical bilateral movements, employing axial and proximal limb muscles.
MESH: Accidents,-Traffic; Adolescence-; Adult-; Analysis-of-Variance; Brain-pathology; Child-; Epilepsy,-Complex-Partial-etiology; Frontal-Lobe-surgery; Magnetic-Resonance-Imaging; Photic-Stimulation
MESH: *Brain-physiopathology; *Corpus-Callosum-abnormalities; *Corpus-Callosum-surgery; *Epilepsy,-Complex-Partial-surgery; *Hand-innervation; *Laterality-physiology; *Motor-Activity-physiology; *Psychomotor-Performance-physiology; *Visual-Pathways-physiopathology
TG: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 94009461
UD: 9401
MEDLINE EXPRESS (R) 1990-1994 52 of 144
TI: Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec.
AU: De-Braekeleer-M; Dallaire-A; Mathieu-J
AD: Departement des Sciences Humaines, Universite du Quebec a Chicoutimi, Canada.
SO: Hum-Genet. 1993 Apr; 91(3): 223-7
ISSN: 0340-6717
PY: 1993
LA: ENGLISH
CP: GERMANY
AB: Sensorimotor polyneuropathy with or without agenesis of the corpus callosum (McKusick number 218000) is a disorder that has a high frequency in Saguenay-Lac-St-Jean (SLSJ), a geographically isolated region of north-eastern Quebec. The incidence at birth and the carrier rate were estimated, respectively, at 1/2117 liveborns and 1/23 inhabitants. Remote consanguinity was found in several polyneuropathic families while the mean kinship coefficient was 2.7 times higher in the polyneuropathic group than in control groups. The birth places of the individuals with sensorimotor polyneuropathy and their parents did not show a clustered nonuniform distribution. The genealogical reconstruction suggests that the high incidence of polyneuropathy in SLSJ is likely to be the result of a founder effect. It also suggests that a unique mutation accounts for most, if not all, of the cases of sensorimotor polyneuropathy known in this region.
MESH: Heterozygote-; Incidence-; Peripheral-Nervous-System-Diseases-epidemiology; Peripheral-Nervous-System-Diseases-physiopathology; Quebec-epidemiology
MESH: *Corpus-Callosum-abnormalities; *Peripheral-Nervous-System-Diseases-genetics
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 93239178
UD: 9307
MEDLINE EXPRESS (R) 1990-1994 53 of 144
TI: [Familial agenesis of the corpus callosum: a new form]
TO: Agenesie familiale du corps calleux: une nouvelle forme.
AU: Castro-Gago-M; Rodriguez-Nunez-A; Eiris-J; Pena-J; Tojo-R; Novo-Rodriguez-I
AD: Departamento de Pediatria, Hospital General de Galicia, Clinico Universitario, Santiago de Compostela, Espana.
SO: Arch-Fr-Pediatr. 1993 Apr; 50(4): 327-30
ISSN: 0003-9764
PY: 1993
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: BACKGROUND. Agenesis of the corpus callosum is generally associated with other developmental defects of the cerebrum. Some familial cases have been reported. CASES REPORTS Case n. 1. A 6 year-old girl was examined because of developmental retardation, first noted at the age of 3 months. There was no consanguinity but 2 girls, cousins of the father, died at 17 and 18 years with the same clinical presentation. Our patient had seizures at 4 years. At examination, she had microcephaly, dilated unreactive pupils, and generalized hypotonia. Her IQ was 15. Funduscopic examination showed optic atrophy and visual evoked potentials were abnormal. The EEG showed spike-wave discharges and the CT scan showed agenesis of the corpus callosum plus heterotopias of the grey matter and brain atrophy. The child died at 12 years of age. Case n. 2. At 15 month-old girl, sister of case n. 1, had shown developmental retardation since the age of 4 months. She had microcephaly, dilated unreactive pupils, generalized hypotonia. Her IQ was 20. She also had optic atrophy, abnormal visual evoked potentials and a hypsarrhythmic pattern on EEG. The CT scan showed agenesis of corpus callosum plus heterotopias of the grey matter and brain atrophy. She died at the age of 10 years. Case n. 3. This boy, brother of cases 1 and 2, was examined on the first day of life. He had microcephaly and some spike-wave discharges on EEG. The CT scan and MRI showed agenesis of the corpus callosum. He had generalized hypotonia at 5 months with an IQ of 30; he suffered from seizures at 18 months. CONCLUSIONS. This agenesis of the corpus callosum seems to have an autosomal recessive inheritance. The associated developmental defects are different from those previously reported, suggesting that these cases represent a new form of corpus callosum lack.
MESH: Abnormalities,-Multiple-diagnosis; Child-; Corpus-Callosum-pathology; English-Abstract; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Tomography-Scanners,-X-Ray-Computed
MESH: *Abnormalities,-Multiple-genetics; *Corpus-Callosum-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93393397
UD: 9312
MEDLINE EXPRESS (R) 1990-1994 54 of 144
TI: Agenesis of the corpus callosum with mental retardation and osseous lesions.
AU: Kozlowski-K; Ouvrier-RA
AD: Department of Radiology, Royal Alexandra Hospital for Children, Camperdown, Sydney, NSW, Australia.
SO: Am-J-Med-Genet. 1993 May 1; 48(1): 6-9
ISSN: 0148-7299
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a patient with agenesis of corpus callosum, mental retardation, and unusual hitherto undescribed bone changes. The latter include multiple Wormian bones, thin ribs, short, straight, laterally tapering clavicles, small iliac bodies, high iliac angles, triangular areas of sclerosis in the iliac bones, minimal metaphyseal irregularity, striated trabecular pattern in some metaphyses, granular ossification pattern of the patellae, hypoplastic distal phalanges, minimal flatness of phalangeal epiphyses, and retarded bone age. This patient represents a new mental retardation syndrome with agenesis of corpus callosum and unusual bone changes.
MESH: Bone-and-Bones-radiography; Brain-radiography; Child-; Femur-abnormalities; Hand-Deformities,-Congenital-radiography; Ossification,-Heterotopic; Skull-abnormalities; Syndrome-; Tomography,-X-Ray-Computed
MESH: *Abnormalities,-Multiple; *Bone-and-Bones-abnormalities; *Corpus-Callosum-abnormalities; *Mental-Retardation
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 93362730
UD: 9311
MEDLINE EXPRESS (R) 1990-1994 55 of 144
TI: Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? [see comments]
CM: Comment in: Am J Med Genet 1994 Apr 15;50(3):306
AU: Sueldo-G; Fernandes-MC
AD: Servicio de Pediatria y Neonatologia, Hospital N.S. de la Misericordia, Cordoba, Argentina.
SO: Am-J-Med-Genet. 1993 Jun 1; 46(4): 355-7
ISSN: 0148-7299
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a girl with frontonasal "dysostosis," callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet. This pattern of the developmental defects suggests a severe form of the acrocallosal syndrome. Implications for genetic counselling are discussed.
MESH: Abnormalities,-Multiple-radiography; Craniofacial-Dysostosis-radiography; Infant,-Newborn; Syndrome-; Toes-radiography
MESH: *Abnormalities,-Multiple-diagnosis; *Corpus-Callosum-abnormalities; *Craniofacial-Dysostosis-diagnosis; *Kidney-Tubules,-Collecting-abnormalities; *Tibia-abnormalities; *Toes-abnormalities
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93362693
UD: 9311
MEDLINE EXPRESS (R) 1990-1994 56 of 144
TI: Phonemic discrimination in callosal agenesis.
AU: Temple-CM; Ilsley-J
AD: Department of Psychology, University of Essex, Colchester.
SO: Cortex. 1993 Jun; 29(2): 341-8
ISSN: 0010-9452
PY: 1993
LA: ENGLISH
CP: ITALY
AB: Children with callosal agenesis have congenital absence of the corpus callosum. Previous analyses of these subjects have shown that they have significant difficulty on rhyming tasks and tasks of explicit sound organisation. This study investigated whether such difficulties were also manifested on simpler tasks requiring the discrimination and repetition of similar sounding linguistic material. None of the acallosal children tested performed at a normal level across tasks. This suggests a possible impairment in the initial registration or analysis of auditory material and possible bases for this deficit are discussed. In cases of callosal agenesis in which impairments in auditory discrimination are more severe there may be a more profound impact upon language development.
MESH: Adolescence-; Attention-physiology; Auditory-Perceptual-Disorders-physiopathology; Child-; Corpus-Callosum-physiopathology
MESH: *Corpus-Callosum-abnormalities; *Phonetics-; *Speech-Perception-physiology
TG: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 93351483
UD: 9311
MEDLINE EXPRESS (R) 1990-1994 57 of 144
TI: Language and development in FG syndrome with callosal agenesis.
AU: McCardle-P; Wilson-B
AD: Department of Pediatrics, Uniformed Services University of Health Sciences, Bethesda, Maryland.
SO: J-Commun-Disord. 1993 Jun; 26(2): 83-100
ISSN: 0021-9924
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: The FG syndrome is characterized by unusual facies, sudden infant death, developmental delay, and abnormalities of the cardiac, gastrointestinal, and central nervous systems. No longitudinal data on development in surviving patients are currently available. Serial evaluations of a patient with FG syndrome, whose sole central nervous system anomaly was agenesis of the corpus callosum, showed a consistent pattern over time. Specific language impairments in syntactic and pragmatic-semantic areas are emerging. These findings represent the first detailed data on which expectations for children with the FG syndrome can be based. The findings also fit theoretical constructs on the function of the corpus callosum and may therefore be generalized to provide expectations for other patients with isolated agenesis of the corpus callosum. Given the information gained from this case, it is clear that language intervention/consultation should be a pivotal service for such children, and that the speech-language pathologist should play a role in the development of an integrated educational services plan.
MESH: Abnormalities,-Multiple-genetics; Brain-Diseases-diagnosis; Brain-Diseases-genetics; Child-Development-Disorders-genetics; Child-Language; Child,-Preschool; Chromosome-Aberrations; Facial-Expression; Karyotyping-; Language-Disorders-genetics; Language-Tests; Mental-Retardation-diagnosis; Mental-Retardation-genetics; Psychological-Tests; Syndrome-; Verbal-Behavior; X-Chromosome
MESH: *Abnormalities,-Multiple-diagnosis; *Child-Development-Disorders-diagnosis; *Corpus-Callosum-abnormalities; *Language-Disorders-diagnosis
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 93346624
UD: 9311
MEDLINE EXPRESS (R) 1990-1994 58 of 144
TI: [Cerebral malformations associated with probable intrauterine infection]
AU: Minamitani-M; Tanaka-J; Hasumura-M; Nozaki-H; Maekawa-K
AD: Division of Neuropathology, Jikei University School of Medicine, Tokyo.
SO: No-To-Hattatsu. 1993 Jul; 25(4): 359-63
ISSN: 0029-0831
PY: 1993
LA: JAPANESE; NON-ENGLISH
CP: JAPAN
AB: An autopsy case with various cerebral malformations was studied and discussed on the pathogenesis. The patient was a 17-year-old female who developed tonic seizures around the age of 1 month and was treated under a diagnosis of infantile spasms. A CT scanning revealed agenesis of corpus callosum, subtentorial arachnoid cyst and brain atrophy. Neuropathologically multiple malformations were observed in the brain, polymicrogyria, pachygyria, cerebral gray matter heterotopia, partial agenesis of corpus callosum, hypoplasia of cerebellar vermis and arachnoid cyst. The most remarkable finding was chronic inflammation represented by infiltration of lymphocytes and foamy macrophages, fibrosis and vascular hyalinization in the arachnoid membrane as well as in the choroid plexus of the third ventricle. Proliferation of astrocytes with intracytoplasmic eosinophilic inclusions was also found in the areas of polymicrogyria and heterotopia. The infratentorial cyst was walled by scarring cerebellar tissue with a focal inflammation which was probably caused by an encephaloclastic process. The diversity in these cerebral malformations suggests that etiology might be polyphasic in time and infectious in nature during the intrauterine period of cerebral development.
MESH: Adolescence-; Arachnoid-Cysts-complications; Corpus-Callosum-abnormalities; English-Abstract; Fetal-Diseases; Microcephaly-complications; Pregnancy-; Pregnancy-Complications,-Infectious
MESH: *Brain-abnormalities
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93332749
UD: 9311
MEDLINE EXPRESS (R) 1990-1994 59 of 144
TI: Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome.
AU: Curatolo-P; Cilio-MR; Del-Giudice-E; Romano-A; Gaggero-R; Pessagno-A
AD: Department of Child Neurology and Psychiatry, University La Sapienza, Rome, Italy.
SO: Neuropediatrics. 1993 Apr; 24(2): 77-82
ISSN: 0174-304X
PY: 1993
LA: ENGLISH
CP: GERMANY
AB: We have observed in two different families two pairs of male siblings born from normal, non-consanguineous parents having the same syndrome, characterized by severe cerebral white matter hypoplasia, agenesis or extreme hypoplasia of the corpus callosum, mental retardation, failure to thrive and minor midline facial abnormalities. This seems to be a previously unreported genetic syndrome.
MESH: Brain-radiography; Child-; Child,-Preschool; Chromosome-Abnormalities-diagnosis; Chromosome-Abnormalities-genetics; Corpus-Callosum-radiography; Failure-to-Thrive-diagnosis; Failure-to-Thrive-genetics; Family-; Growth-Disorders-genetics; Magnetic-Resonance-Imaging; Mental-Retardation-genetics; Neurologic-Examination; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Brain-abnormalities; *Corpus-Callosum-abnormalities; *Growth-Disorders-diagnosis; *Mental-Retardation-diagnosis
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93317106
UD: 9310
MEDLINE EXPRESS (R) 1990-1994 60 of 144
TI: Mosaic tetrasomy 8p.
AU: Newton-D; Hammond-L; Wiley-J; Kushnick-T
AD: Department of Pediatrics, ECU School of Medicine, Greenville, NC 27858-4354.
SO: Am-J-Med-Genet. 1993 Jun 15; 46(5): 513-6
ISSN: 0148-7299
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a patient with mosaic tetrasomy 8p [46,XX/47,XX+i(8p)]. The patient has 2 fused vertebrae, abnormal ribs, congenital heart defects, agenesis of corpus callosum, hypotonia, and delayed development. The patient's developmental delays are most marked in receptive and expressive language skills, with more moderate delays on cognitive, sensorimotor, and motor skill testing. These findings are similar to those of the 3 previously reported patients with mosaic i(8p).
MESH: Chromosome-Banding; Corpus-Callosum-abnormalities; Heart-Failure,-Congestive-congenital; Infant,-Newborn; Karyotyping-; Muscle-Hypotonia-genetics; Spine-abnormalities
MESH: *Abnormalities,-Multiple-genetics; *Aneuploidy-; *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-8; *Mosaicism-
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 93311457
UD: 9310
MEDLINE EXPRESS (R) 1990-1994 61 of 144
TI: Aicardi syndrome: more than meets the eye [see comments]
CM: Comment in: Surv Ophthalmol 1993 Nov-Dec;38(3):321
AU: Carney-SH; Brodsky-MC; Good-WV; Glasier-CM; Greibel-ML; Cunniff-C
AD: Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock.
SO: Surv-Ophthalmol. 1993 May-Jun; 37(6): 419-24
ISSN: 0039-6257
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: An eight-month-old girl with infantile spasms and apparent blindness had electroencephalographic findings compatible with Aicardi syndrome. In addition to optic nerve hypoplasia, there were multiple congenital retinal malformations in the right eye, including chorioretinal lacunae, anomalous retinal vessels, posterior scleral ectasia, and a peripheral fibrous ridge. Magnetic resonance imaging demonstrated agenesis of the corpus callosum, absence of the septum pellucidum, optic nerve and chiasmal hypoplasia, pachygyria, cortical heterotopias, colpocephaly, and hypoplasia of the cerebellar vermis. This patient illustrates the broad spectrum of cerebroretinal malformations now known to characterize Aicardi syndrome.
MESH: Abnormalities,-Multiple-pathology; Blindness-congenital; Electroencephalography-; Infant-; Magnetic-Resonance-Imaging; Syndrome-
MESH: *Corpus-Callosum-abnormalities; *Optic-Nerve-abnormalities; *Retina-abnormalities; *Spasms,-Infantile-congenital
TG: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 93296767
UD: 9309
MEDLINE EXPRESS (R) 1990-1994 62 of 144
TI: Decreased interhemispheric EEG coherence during sleep in agenesis of the corpus callosum.
AU: Nielsen-T; Montplaisir-J; Lassonde-M
AD: Centre d'Etude du Sommeil, Hopital du Sacre-Coeur, Montreal, Que., Canada.
SO: Eur-Neurol. 1993; 33(2): 173-6
ISSN: 0014-3022
PY: 1993
LA: ENGLISH
CP: SWITZERLAND
AB: Inter- and intrahemispheric EEG coherence was studied in 4 subjects with agenesis of the corpus callosum (ACC) and in 4 matched controls through different states of the sleep/wakefulness cycle. Interhemispheric coherence was calculated between homologous prefrontal, frontal, central, parietal and occipital electrode pairs whereas intrahemispheric coherence was calculated between all adjacent, unihemispheric electrode pairs. EEG samples were recorded from stage 2, stages 3 + 4 and stage REM sleep and the eyes closed waking state. Interhemispheric coherence measures indicated lower values for ACC subjects than for control subjects for most brain regions; the occipital cortex was least affected. These results further validate the interhemispheric coherence function as a measure of activity in the corpus callosum and suggest that occipital measures may index activity localized in the posterior commissure. Intrahemispheric coherence measures indicated very few differences between the two groups, a result consistent with the suggestion that there is no specialized intrahemispheric compensation in ACC.
MESH: Adolescence-; Adult-
MESH: *Corpus-Callosum-abnormalities; *Electroencephalography-; *Sleep-physiology
TG: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 93223729
UD: 9307
MEDLINE EXPRESS (R) 1990-1994 63 of 144
TI: X-linked mental retardation with agenesis of the corpus callosum [letter; comment]
CM: Comment on: Am J Med Genet 1992 Apr 15-May 1;43(1-2):458-66
AU: Fryns-JP
SO: Am-J-Med-Genet. 1993 Feb 15; 45(4): 533
ISSN: 0148-7299
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
MESH: Cerebral-Ventriculography; Heterozygote-Detection; Seizures-; Syndrome-; Tomography,-X-Ray-Computed
MESH: *Corpus-Callosum-abnormalities; *Linkage-Genetics; *Mental-Retardation-genetics; *X-Chromosome
TG: Human; Male
PT: COMMENT; LETTER
AN: 93220727
UD: 9307
MEDLINE EXPRESS (R) 1990-1994 64 of 144
TI: MRI and clinical findings in rhombencephalosynapsis.
AU: Simmons-G; Damiano-TR; Truwit-CL
AD: Department of Radiology, Fitzsimons Army Medical Center, Aurora, CO 80045-5000.
SO: J-Comput-Assist-Tomogr. 1993 Mar-Apr; 17(2): 211-4
ISSN: 0363-8715
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: Rhombencephalosynapsis is an unusual disorder characterized predominantly by agenesis/hypogenesis of the cerebellar vermis and fusion of the cerebellar hemispheres. Three cases are reported with emphasis on the MRI and clinical findings. Discussion of the relative importance of the cerebellar anomalies and associated supratentorial abnormalities is included.
MESH: Abnormalities,-Multiple; Adult-; Cerebellar-Nuclei-abnormalities; Cerebellar-Nuclei-pathology; Cerebellum-abnormalities; Cerebellum-pathology; Cerebral-Ventricles-abnormalities; Cerebral-Ventricles-pathology; Child-; Child,-Preschool; Corpus-Callosum-abnormalities; Corpus-Callosum-pathology; Inferior-Colliculus-abnormalities; Inferior-Colliculus-pathology; Rhombencephalon-pathology; Superior-Colliculus-abnormalities; Superior-Colliculus-pathology
MESH: *Magnetic-Resonance-Imaging; *Rhombencephalon-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93203458
UD: 9306
MEDLINE EXPRESS (R) 1990-1994 65 of 144
TI: Sound localization in acallosal human listeners.
AU: Poirier-P; Miljours-S; Lassonde-M; Lepore-F
AD: Groupe de Recherche en Neuropsychologie Experimentale, Universite de Montreal, Quebec, Canada.
SO: Brain. 1993 Feb; 116 ( Pt 1): 53-69
ISSN: 0006-8950
PY: 1993
LA: ENGLISH
CP: ENGLAND
AB: In order to evaluate the callosal and hemispheric involvement in sound localization, the present study examined response accuracy to auditory targets in acallosal subjects. The primary interest was to determine whether the congenital absence of the corpus callosum affects auditory localization, especially for sounds situated near the midline of auditory space or moving across it. A corollary objective was to examine the possible existence of an hemispheric asymmetry on audio-spatial localization tasks. Four subjects with callosal agenesis paired to four age and IQ-matched controls and 16 normal control subjects were asked to locate broad band noise bursts at fixed intensity (52 dB sound pressure level) in the horizontal plane in an anechoic chamber. Broad band noise bursts were delivered randomly through 16 loudspeakers, which were mounted at approximately 10 degrees intervals on a perimeter frame. Two conditions were tested: (i) localization of a fixed-sound source; (ii) localization of the beginning and the end of a simulated moving stimulus. Two response modes were used. Listeners reported the apparent stimulus location either (i) by pointing with the ipsilateral index finger or (ii) by calling out the estimated angles indicated on the calibrated sound perimeter. Aiming accuracy was assessed by calculating the mean deviation of the response from the objective target position. The results indicated that the responses of the acallosal subjects were less accurate than those of the controls. The deficit was observed not only at the midline but throughout the auditory field. This points to possible compensatory mechanisms following the early absence of the corpus callosum which are, however, limited. The results obtained with manual pointing were generally more precise than those obtained through oral responses. This difference suggests that the remapping of spatial positions onto a verbally based coordinate system involves a supplementary cognitive step which affects the precision of the response. Comparing the performance to stimulus presentation in the left and right fields indicated that no hemispheric asymmetry was apparent under any of the conditions for either the acallosal subjects or the IQ-matched and normal control subjects.
MESH: Adolescence-; Adult-; Auditory-Perception-physiology; Corpus-Callosum-physiology
MESH: *Corpus-Callosum-abnormalities; *Sound-Localization
TG: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 93201234
UD: 9306
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 66 of 144
TI: Tactile naming disorder of the left hand in two cases with corpus callosum agenesis.
AU: Koeda-T; Takeshita-K
AD: Department of Paediatrics, Kitakyusyo City Sogo Ryouiku Center, Japan.
SO: Dev-Med-Child-Neurol. 1993 Jan; 35(1): 65-9
ISSN: 0012-1622
PY: 1993
LA: ENGLISH
CP: ENGLAND
AB: The authors report two girls with corpus callosum agenesis, with unilateral tactile naming disorder in the left hand. Neuropsychological examinations were performed and tactile perception and naming were studied. The results suggested that tactile naming disorder in both cases could be regarded as a disconnection deficit. Both had daily epileptic attacks and mild or moderate mental deficiency. In these severely impaired children, brain capacity and neural plasticity seem inferior, so classical disconnection deficits might be demonstrated.
MESH: Adolescence-; Brain-Diseases-physiopathology; Child-; Corpus-Callosum-radiography; Diagnosis,-Differential; Discrimination-Psychology; Magnetic-Resonance-Imaging; Psychomotor-Performance; Theta-Rhythm; Verbal-Behavior
MESH: *Brain-Diseases-diagnosis; *Corpus-Callosum-physiopathology; *Laterality-; *Neuropsychological-Tests; *Touch-
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93193995
UD: 9306
MEDLINE EXPRESS (R) 1990-1994 67 of 144
TI: Induction of agenesis of the corpus callosum by the destruction of anlage of the olfactory bulb using fetal laser surgery exo utero in mice.
AU: Naruse-I; Keino-H
AD: Department of Morphology, Institute for Developmental Research, Aichi Prefectural Colony, Japan.
SO: Brain-Res-Dev-Brain-Res. 1993 Jan 15; 71(1): 69-74
ISSN: 0165-3806
PY: 1993
LA: ENGLISH
CP: NETHERLANDS
AB: It has long been discussed why some congenital anomalies were often involved with abnormalities in other organs, for example, brain anomalies accompanied by limb anomalies or cleft palate. The mechanism of combined abnormalities has been mysterious, and usually explained as pleiotropism. A combination between agenesis of the olfactory bulb and agenesis of the corpus callosum has been reported. In the present experiments, it has been suggested that non-attachment of the olfactory nerve to the rostro-ventral tip of the telencephalon blocked the induction of the olfactory bulbs from the telencephalon in genetic arhinencephalic mouse embryos. It was shown that the destruction of the olfactory bulb anlage using fetal laser surgery exo utero becomes a trigger of agenesis of the corpus callosum and irregular connection of the anterior commissure in later morphogenesis of the mouse brain. We believe that a fetal surgical experiment like this will make clear the morphogenetic mechanism of the combined abnormalities that have been previously explained as pleiotropism.
MESH: Abnormalities,-Multiple-genetics; Animals,-Newborn; Corpus-Callosum-embryology; Fetus-; Homozygote-; Laser-Surgery; Mice-; Mice,-Mutant-Strains; Olfactory-Bulb-physiology; Olfactory-Bulb-surgery
MESH: *Brain-abnormalities; *Corpus-Callosum-abnormalities; *Olfactory-Bulb-embryology
TG: Animal; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 93161519
UD: 9305
MEDLINE EXPRESS (R) 1990-1994 68 of 144
TI: Agenesis of the corpus callosum.
AU: Warren-ME; Cook-JV
AD: Department of Diagnostic Radiology, St George's Hospital, London.
SO: Br-J-Radiol. 1993 Jan; 66(781): 81-5
ISSN: 0007-1285
PY: 1993
LA: ENGLISH
CP: ENGLAND
MESH: Abnormalities,-Multiple; Adult-; Brain-radiography; Infant,-Newborn; Pregnancy-; Tomography,-X-Ray-Computed
MESH: *Corpus-Callosum-abnormalities; *Echoencephalography-; *Ultrasonography,-Prenatal
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93153555
UD: 9305
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 69 of 144
TI: Central nervous system malformations in trisomy 9.
AU: Golden-JA; Schoene-WC
AD: Department of Pathology, Charles S. Kubik Laboratory of Neuropathology, Massachusetts General Hospital, Boston 02114-3696.
SO: J-Neuropathol-Exp-Neurol. 1993 Jan; 52(1): 71-7
ISSN: 0022-3069
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: Trisomy 21, 18 and 13 are the most common varieties of autosomal trisomy recognized at birth; most of the others lead to spontaneous abortions in the first trimester. Trisomy 9, a rare trisomy, is compatible with life, but, unlike trisomy 21, 18 and 13, the range of manifestations has not been well catalogued. Central nervous system abnormalities have been reported in the majority of cases, usually including a dilated fourth ventricle and malformed cerebellum. The posterior fossa malformation closely resembles the descriptions of the Dandy-Walker malformation leading some to suggest this designation, while others have suggested that the features are unique to trisomy 9. Two cases of trisomy 9 are presented in this report which extend the range of neuropathologic manifestations in this cytogenetic disorder. The first infant had cortical migration abnormalities, anomalous hippocampal formation, simplified inferior olivary nuclei, germinal matrix cysts, mild ventriculomegaly, syringomyelia, and a large myelomeningocele without a Chiari type II malformation. The fourth ventricle was normal in size and the cerebellum unremarkable. The second infant had a cystically dilated fourth ventricle and widely separated cerebellar hemispheres with an intact cerebellar vermis, the features of which we felt were compatible with the Dandy-Walker malformation. In addition, agenesis of the corpus callosum, anomalous hippocampal formation, subpial glial nodules and mild ventriculomegaly were present. These cases extend the range of malformations that may be associated with trisomy 9, and raise the differential diagnosis of trisomy 9 when these malformations are identified.(ABSTRACT TRUNCATED AT 250 WORDS)
MESH: Brain-Stem-abnormalities; Cerebellum-abnormalities; Cerebral-Ventricles-abnormalities; Corpus-Callosum-abnormalities; Infant,-Newborn
MESH: *Brain-abnormalities; *Spinal-Cord-abnormalities; *Trisomy-pathology
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93147842
UD: 9305
MEDLINE EXPRESS (R) 1990-1994 70 of 144
TI: Facilitation of infantile spasms by partial seizures.
AU: Carrazana-EJ; Lombroso-CT; Mikati-M; Helmers-S; Holmes-GL
AD: Department of Neurology, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
SO: Epilepsia. 1993 Jan-Feb; 34(1): 97-109
ISSN: 0013-9580
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We report 16 patients with infantile spasms in whom onset of the clusters of spasms appeared to be triggered by close temporal association with partial seizures. Common features included the presence of focal cerebral lesions in 12 infants (3 were classifiable as cryptogenic); all had partial seizures with EEG localization, clusters of bilateral spasms always preceded by partial seizures, and response to adrenocorticotropic hormone (ACTH) and traditional antiepileptic drugs (AEDs) generally was poor. Three had complete agenesis of the corpus callosum, which argues against interhemispheric callosal spread of focal discharges resulting in the generalized spasms. Surgical cortical resections were performed in 6 of the infants, with good outcomes. This group of patients supports a model in which the spasms, although probably generated at a subcortical level, are facilitated or possibly induced by focal discharges from cortical pathology.
MESH: Cerebral-Cortex-physiopathology; Cerebral-Cortex-surgery; Child,-Preschool; Corpus-Callosum-abnormalities; Epilepsy,-Partial-diagnosis; Epilepsy,-Partial-surgery; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Spasms,-Infantile-diagnosis; Spasms,-Infantile-surgery
MESH: *Electroencephalography-; *Epilepsy,-Partial-complications; *Spasms,-Infantile-etiology
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93137802
UD: 9304
MEDLINE EXPRESS (R) 1990-1994 71 of 144
TI: Infantile spasms in a patient with septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst.
AU: Lahat-E; Strauss-S; Tadmor-R; Bistritzer-T
AD: Department of Pediatrics and Radiology, Assaf Harofeh Medical Center, Zerifin, Israel.
SO: Clin-Neurol-Neurosurg. 1992; 94(2): 165-7
ISSN: 0303-8467
PY: 1992
LA: ENGLISH
CP: NETHERLANDS
AB: An uncommon association of infantile spasms, septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst is described in a child. The combination of these findings has not, to our knowledge, been previously reported.
MESH: Blindness-congenital; Brain-Diseases-complications; Brain-Diseases-diagnosis; Corpus-Callosum-pathology; Cysts-complications; Cysts-diagnosis; Infant-; Mental-Retardation-etiology; Optic-Nerve-pathology; Septum-Pellucidum-pathology
MESH: *Brain-Diseases-congenital; *Corpus-Callosum-abnormalities; *Cysts-congenital; *Magnetic-Resonance-Imaging; *Optic-Nerve-abnormalities; *Septum-Pellucidum-abnormalities; *Spasms,-Infantile-etiology; *Tomography,-X-Ray-Computed
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 92379941
UD: 9212
MEDLINE EXPRESS (R) 1990-1994 72 of 144
TI: [Aicardi syndrome: a case report]
AU: Lin-CK; Tsai-RK; Jong-YJ
AD: Department of Ophthalmology, Kaohsiung Medical College, Taiwan, Republic of China.
SO: Kao-Hsiung-I-Hsueh-Ko-Hsueh-Tsa-Chih. 1992 Dec; 8(12): 692-6
ISSN: 0257-5655
PY: 1992
LA: CHINESE; NON-ENGLISH
CP: TAIWAN
AB: A 5-year-old girl had suffered from infantile spasms since 3 months of age. Cranial computerized tomography revealed agenesis of the corpus callosum. Abnormal ocular fundus features consisted of bilateral disc colobomas and lacunar pigment change in her right eye. The clinical presentations were consistent with Aicardi syndrome. The ophthalmologic manifestations of Aicardi syndrome will be discussed in this paper.
MESH: English-Abstract; Infant-; Syndrome-
MESH: *Coloboma-pathology; *Corpus-Callosum-abnormalities; *Optic-Nerve-abnormalities; *Pigment-Epithelium-of-Eye-abnormalities; *Spasms,-Infantile-etiology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93204240
UD: 9306
SB: DENTAL
MEDLINE EXPRESS (R) 1990-1994 73 of 144
TI: Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects.
AU: Thyen-U; Aksu-F; Bartsch-O; Herb-E
AD: Klinik fur Padiatrie, Medizinische Universitat zu Lubeck, Germany.
SO: Neuropediatrics. 1992 Dec; 23(6): 292-6
ISSN: 0174-304X
PY: 1992
LA: ENGLISH
CP: GERMANY
AB: The acrocallosal syndrome (ACS) is a rare malformation syndrome characterized by a distinct pattern of craniofacial, brain and limb anomalies. It was first described by Schinzel in 1979 and followed by 25 other cases reported in the literature. Neurodevelopmental aspects include hypotonia of prenatal onset, seizures and moderate to severe mental retardation. The condition is probably of autosomal recessive inheritance but is closely resembles the Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominantly inherited disorder mapped to the short arm of chromosome seven. We reviewed the literature for aspects of associated cystic malformations in addition to agenesis of the corpus callosum and report on another patient with ACS. Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limb malformations.
MESH: Abnormalities,-Multiple-diagnosis; Blood-Pressure; Brain-Diseases-diagnosis; Cysts-diagnosis; Epilepsy-diagnosis; Extremities-abnormalities; Infant,-Newborn; Magnetic-Resonance-Imaging; Mental-Retardation-diagnosis; Syndrome-
MESH: *Brain-abnormalities; *Corpus-Callosum-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 93149356
UD: 9305
MEDLINE EXPRESS (R) 1990-1994 74 of 144
TI: [Interhemispheric choroidal epithelial cyst associated with partial agenesis of the corpus callosum: case report and review of the literature]
AU: Inagaki-H; Kurosaki-M; Hori-T; Koeda-T; Ohama-E
AD: Division of Neurosurgery, Faculty of Medicine, Tottori University, Yonago, Japan.
SO: No-Shinkei-Geka. 1992 Dec; 20(12): 1301-6
ISSN: 0301-2603
PY: 1992
LA: JAPANESE; NON-ENGLISH
CP: JAPAN
AB: A case of interhemispheric choroidal epithelial cyst is reported. The patient is a 9-month-old female who was transadmitted to our hospital for further examination because of the enlargement of her head. She had no neurological deficits nor symptoms of increased intracranial pressure. CT scanning performed on admission showed multiple cystic lesions in the right frontoparietal interhemispheric space, whose circumference was partially enhanced with contrast medium. Metrizamide CT cisternography demonstrated no communication between the lesions and the ventricular system. The signal intensity of the cysts was higher than that of cerebrospinal fluid on both T1-weighted and T2-weighted MR images. Sagittal T1-weighted images showed partial agenesis of the corpus callosum. The surgical exploration was performed via interhemispheric approach. The cyst wall was found to be white, relatively rich in vascular components, and was removed as much as possible. The examination of the cyst fluid showed total protein levels of 1250 to 3440 mg/dl, and sugar contents of 43 to 99mg/dl. Callosal agenesis was confirmed at operation. The light microscopic examination revealed that the cyst wall was composed of a single layer of columnar or cuboidal epithelium with occasional papillary configuration and thick collagenous connective tissue. The epithelial cells contained PAS-positive granules in the cytoplasm. Electron microscopy showed numerous club-shaped microvilli with no coating materials, continuous basement membrane, tight junction, interdigitation, and multiple fenestrations of endothelium of stromal vessels. On the basis of these findings, the lesion was diagnosed as choroidal epithelial cyst. In the literature, interhemispheric choroidal epithelial cyst associated with partial callosal agenesis, confirmed ultrastructurally, has not, to out knowledge, been reported.
MESH: Brain-Diseases-complications; Brain-Diseases-diagnosis; Brain-Diseases-pathology; Cysts-diagnosis; English-Abstract; Infant-; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed
MESH: *Choroid-Plexus; *Corpus-Callosum-abnormalities; *Cysts-pathology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 93133387
UD: 9304
MEDLINE EXPRESS (R) 1990-1994 75 of 144
TI: Agenesis of the corpus callosum [letter; comment]
CM: Comment on: J Child Neurol 1992 Jan;7(1):114-6
AU: Jeret-JS
SO: J-Child-Neurol. 1992 Oct; 7(4): 463-4
ISSN: 0883-0738
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
MESH: Chromosome-Abnormalities-genetics; Chromosomes,-Human,-Pair-6
MESH: *Corpus-Callosum-abnormalities; *Trisomy-genetics
TG: Female; Human; Male
PT: COMMENT; LETTER
AN: 93107609
UD: 9303
MEDLINE EXPRESS (R) 1990-1994 76 of 144
TI: The effects of early experience on callosal development and functional lateralization in pigmented BALB/c mice.
AU: Bulman-Fleming-B; Wainwright-PE; Collins-RL
AD: Department of Psychology, University of Waterloo, Ont., Canada.
SO: Behav-Brain-Res. 1992 Sep 28; 50(1-2): 31-42
ISSN: 0166-4328
PY: 1992
LA: ENGLISH
CP: NETHERLANDS
AB: A proportion of animals of the BALB/c inbred mouse strain have an unusually small (sometimes absent) midsagittal area of the corpus callosum (CC). In this study, we used a large sample of both males and females (total n = 198) from a pigmented congenic BALB/c line to investigate the relations among preweaning handling, area of CC, and direction and degree of lateralization as measured by Collins' paw preference task. Twenty litters were handled daily from the day after birth until day 25 (weaning) according to Denenberg's procedure and 18 litters were left undisturbed until weaning. All animals were tested for degree and direction of paw preference in a modification of Collins' apparatus at about 60 days and measures taken on CNS structures at 100 days of age. There were no handling or sex effects on degree or direction of paw preference or on the extent of CC defects, but for animals in the normal range (CC > or = 0.7 mm2), those which had been handled had significantly smaller callosa. No significant differences were detected between right and left hemisphere weights, and these measures did not appear to be related to the behavioural measures. There was no significant correlation between CC area and degree of paw preference nor was there any relationship between total agenesis and degree of handedness. This last result is particularly interesting in light of recent evidence that ILn/J mice, all acallosal, are exclusively ambilateral.
MESH: Animals,-Newborn; Arousal-physiology; Handling-Psychology; Laterality-physiology; Mice-; Mice,-Inbred-BALB-C; Organ-Weight-physiology
MESH: *Corpus-Callosum-physiology; *Dominance,-Cerebral-physiology; *Social-Environment
TG: Animal; Female; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: GM23618GMNIGMS
AN: 93080790
UD: 9303
web contact: pietsch@indiana.edu