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At least 19 recordsLinked to original sources
PubMed1979

[Sphenoethmoidal meningoencephalocele associated with agenesis of corpus callosum and median cleft lip and palate--report of two cases (author's transl)].

Two cases of sphenoethmoidal meningoencephalocele are reported. Patients are a 1 year 7 month old boy and a 3 year old boy. Although sphenoethmoidal meningoencephalocele is reasonably classified as a type of basal meningoencephalocele, the authors could not find out any reports on cases designated as such. The reason must be in difficulty to differentiate the sphenoethmoidal type from the transsphenoidal type. Authors could differentiate them using CT scan. Two other cases were found in cases reported as transsphenoidal type. Further, it is assumed that these four cases including our two cases were accompanied with agenesis of corpus callosum and median cleft lip and palate. Despite the fact that the respective anomalies are rare, they are completely the same, which signifies the possibility that 1) sphenoethmoidal meningoencephalocele, 2) agenesis of corpus callosum and 3) median cleft lip and palate are a single unit of congenital anomalies. It probably should be considered that the cause for these malformations were present even before the formation of the lips which takes place earliest, that is, sixth week of gestation.

Abnormalities, Multiple↗
PubMed1978

Transsphenoidal encephalocele associated with agenesis of corpus callosum: value of metrizamide computed cisternography.

Transsphenoidal encephaloceles are rare congenital malformations that are classified among the medial dysraphias and that are therefore associated with an agenesis of the corpus callosum. Clinically, the diagnosis is difficult, but hypertelorism and weakening eyesight should be of suggestive value. Diagnosis is basically radiological. In the past, it was founded on roentgenography, tomography of the base of the skull, pneumoencephalography, and angiography when necessary. Today, metrizamide computed cisternography using axial transverse and coronal sections, supplemented by sagittal reconstructions, allows for a complete examination of bony, meningeal, and cerebral abnormalities.

Agenesis of Corpus Callosum↗
PubMed1978

Agenesis of the corpus callosum: limits of functional compensation.

Two patients with radiologically confirmed total agenesis of the corpus callosum, and free of gross focal hemispheric pathology, received a battery of lateralized and free-field language and perceptual-motor tests. These tasks allowed a comparison of (1) agenic findings with previous results from surgical commissurotomy patients, and (2) the inter- and intrahemispheric performance for each agenic subject. In general, the results indicate that the two agenic patients do not demonstrate the marked deficits of cross-integration reported after commissurotomy. However, there was an upper limit to their integrative capacity for visual, and to an even greater extent, for fine motor and kinesthetically mediated performance. The tasks that proved particularly difficult appeared to have common factors which may be related to functional capabilities of the ipsilateral motor pathways and anterior commissure.

Adult↗
PubMed1979

Agenesis of the corpus callosum: a study of the frequency of associated malformations.

Review of 11 cases of agenesis of the corpus callosum studied at our institution revealed a high incidence of associated anomalies. None patients had associated malformations of the central nervous system, 6 involving the pyramidal system. Eight cases were associated with malformations in the rest of the body. Review of completely examined cases from the literature yielded 47 examples of associated malformations. These were varied and without consistent pattern, with the possible exception of facial abnormalities.

Adolescent↗
PubMed1979

Ketamine and agenesis of the corpus callosum.

Ketamine did not provide adequate anaesthesia for pneumoencephalography in a 10-week-old child with agenesis of the corpus collosum. Associated neurological defects are the most likely reason for this failure.

Agenesis of Corpus Callosum↗
PubMed1979

Diagnosis of agenesis of the corpus callosum by computer assisted tomography: report of two cases presenting with epileptic seizures.

Two young patients who had intermittent epileptic seizures were referred to us for cranial computer tomography, and both turned out to be cases with agenesis of the corpus callosum. There were a few other abnormalities associated with the finding, and indeed in both cases epilepsy was not the initial symptom. CT scans showed ventricular configuration very similar to that said to be characteristic of the condition on air encephalograms. The non-invasive nature of CT, and the diagnostic accuracy it provided, are the basis of this report.

Agenesis of Corpus Callosum↗
PubMed1976

Hydrocephalus in Down's syndrome.

An infant with hydrocephalus, aqueductal stenosis and partial agenesis of the corpus callosum in association with Down's syndrome is reported. Review of the literature reveals that hydrocephalus is infrequent in Down's syndrome. Of special interest is the occurrence of agenesis of the corpus callosum in our patient, a lesion often reported with other chromosomal abnormalities, but not previously observed in Down's syndrome.

Agenesis of Corpus Callosum↗
PubMed1979

Alcohol embryo- and fetopathy. Neuropathology of 3 children and 3 fetuses.

Maternal chronic ethanol abuse during pregnancy causes malformations of the offspring. Three children (aged 6 months, 9 months, 4 1/2 years) and 3 fetuses (17th, 18th, and 20th gestational week) showed a wide spectrum of disorders ranging from severe dysraphic state, arhinencephaly, porencephaly, agenesis of corpus callosum, a range from hydranencephaly to microdysplasias (p.e. reduced gyration of dentate nucleus and inferior olives), and a range from gastrochisis or congenital heart defects to craniofacial dysmorphogenesis and palmar crease anomalies. The patterns of the cerebral malformations were not as uniform as the clinical phenotype of the alcohol embryopathy. The observations did not support the assumption that there exists a specific period for alcohol teratogenicity.

Abnormalities, Drug-Induced↗
PubMed1979

[Abnormal corpus callosum and epilepsy--a catamnestic report].

A catamnestic account is given of a case of corpus callosum deficiency. The clinical symptoms and para-clinical findings could not be interpreted with the syndrome. A short reference is made to the importance of the corpus callosum deficiency.

Agenesis of Corpus Callosum↗
PubMed2026

Expansion of the allelic and phenotypic spectrum of MED25-related developmental disorder: novel compound heterozygous variants with structural domain implications.

MED25-related developmental disorder (Basel-Vanagaite-Smirin-Yosef syndrome) is a rare autosomal recessive disorder, defined by severe neurodevelopmental delay, corpus callosum abnormalities, ocular involvement, epilepsy, and marked facial appearance. MED25 pathogenic variants interfere with the functioning of the Mediator complex, which is responsible for RNA polymerase II transcription. We report a 9-year-old girl who presents with significant global developmental delay, agenesis of the corpus callosum, congenital cataracts, epilepsy, hypotonia, musculoskeletal abnormalities, and typical craniofacial features. Trio-based whole-exome sequencing revealed compound heterozygous variants in MED25: a maternally transmitted truncating variant (c.1366 C > T; p.Gln456*) and a paternally inherited missense variant (c.430 C > T; p.Leu144Phe). The new classification of the missense variant as potentially pathogenic is supported by a systematic ACMG re-evaluation supported by segregation analysis, phenotypic specificity, computational prediction, and structural localization in the MED25 Activator Interaction Domain (ACID). Comparative phenotypic analyses show strong agreement with reported cases but add more data to fine-tune clinical spectrum. This article broadens the allelic and phenotypic spectrum of MED25-related developmental disorder and highlights the need for comprehensive evaluation across molecular, structural, and phenotypic pathways to elucidate variant signature in rare genetic disease models correctly.

Humans↗
PubMed1979

Congenital ocular motor apraxia. A possible disconnection syndrome.

In 1952, Cogan introduced the term "congenital ocular motor apraxia" (COA) to describe an abnormality of eye movements characterized by absent or defective voluntary horizontal gaze. Since his original description, there have been few subsequent reports of this disorder. A ten-year review of clinical records from the University of Wisconsin Hospitals disclosed eight patients with COA. In two patients subjected to neuroradiologic testing, agenesis of the corpus callosum was detected. Voluntary horizontal gaze appears to be a learned phenomenon, and defective interhemispheric transfer of visual information may be important in the pathogenesis of COA.

Agenesis of Corpus Callosum↗