Pontoneocerebellar hypoplasia--a probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication.
The autopsy findings of a 21/2-year-old microcephalic, mentally retarded girl, with tetraparesis, and dysmorphic features are reported. Neuropathologic findings, typical of the ponto-neocerebellar hypoplasia described by Brun [1917], suggest that this abnormality was the result of a prenatally acquired destruction of the pontine nuclei, with a secondary retrograde degeneration of the dentatopontine tract. The possible role of phenytoin, taken by the mother during pregnancy, is discussed.
D000014:Abnormalities, Drug-Induced / Q000209:etiology* / Q000473:pathology; D000015:Abnormalities, Multiple / Q000139:chemically induced / Q000473:pathology; D001284:Atrophy / Q000139:chemically induced; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D004827:Epilepsy / Q000188:drug therapy; D005260:Female; D006801:Humans; D008831:Microcephaly / Q000139:chemically induced; D009069:Movement Disorders / Q000473:pathology; D010672:Phenytoin / Q000009:adverse effects*; D011149:Pons / Q000002:abnormalities* / Q000473:pathology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy
D010672:Phenytoin