[Dysgenesis of CNS in dyscranio-pygo-phalangia (author's transl)]

A rare case of dyscranio-pygo-phalangia was studied neuropathologically. The patient was a 19 days old boy, who showed multiple anomalies: protuberance of forehead, narrow eye fissures, microphthalmos, micrognathia, microauriculae with dysplasia, hexadactylia of extremities, cryptorchism, asymmetric thorax, congenital heart disease and hypoplasia of the right lung. There were multiple dysgeneses in the central nervous system, especially the cerebellum: floccular heterotopia; heterotopias of cortex type, cerebellar nucleic type and Purkinje cell type; external granular layer cells in the white matter; dentate spindle-cell-dysgenesis. Other findings were glio-neurono-mesenchymal dysgenesis on the surface of the brain, residual fetal external granular layer on the surface of the pons, partial hypoplasia of corpus callosum, heterotopic nerve cells in the molecular layer of the periinsular cortex.