[Hypoplasia ponto-neocerebellaris (author's transl)].
In an otherwise healthy family three male infants fell ill with microcephaly, hypotonus of the muscles, non-specific hyperkineses, seizures, and rapid mental deterioration. In addition to microdysplasia in the cerebral cortex the main neuropathological findings were the separation of the dentate nucleus into many islets, an atypical band of the inferior olives, and deficiency of the pontocerebellar fibers in the basal part of the pons. The hypoplasia of the areas involved can be distinguished from the degenerative process in the dégénérescence systematisé optico-cochleo-dentelé (Nyssen-van Bogaert).
D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D002524:Cerebellar Ataxia / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D009123:Muscle Hypotonia / Q000473:pathology; D011149:Pons / Q000473:pathology; D013577:Syndrome
Hypoplasia ponto-neocerebellaris.