Familial lissencephaly with extreme neopallial hypoplasia.
Two siblings, male and female, with identical lethal brain malformation are described. Their anomaly is characterized by very low brain weight, lissencephaly, wide ventricles and thin neopallium (colpocephaly) varying in thickness between 0.2 and 3 mm. The neocortex is four layered as in classic lissencephaly. Brainstem and cerebellar anomalies are more extensive than in cases hitherto described in detail. No extracranial malformation is found. The parental karyotypes are normal. The relationship to previously reported familial cases of lissencephaly and several inherited syndromes featuring lissencephaly is discussed. The present family may represent a severe expression of previously described autosomal recessive lissencephaly without extracranial anomaly or may represent a new genetic lissencephaly syndrome.
D001921:Brain / Q000473:pathology; D001933:Brain Stem / Q000002:abnormalities; D002531:Cerebellum / Q000002:abnormalities; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002552:Cerebral Ventricles / Q000002:abnormalities; D003342:Corpus Striatum / Q000002:abnormalities; D005260:Female; D005917:Globus Pallidus / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology