Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome

• Published in: Brain & development (Tokyo. 1979) Vol. 19; no. 1; pp. 58 - 62
• Main Authors: Sakai, Tetsuo, Kikuchi, Fumihito, Takashima, Sachio, Matsuda, Hiroo, Watanabe, Nobuo
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 1997; Elsevier Science
• Subjects: Agenesis of Corpus Callosum; Biological and medical sciences; Brain - abnormalities; Cerebro-oculo-facio-skeletal (COFS) syndrome; Complex syndromes; Craniofacial Abnormalities - diagnosis; Fatal Outcome; Humans; Infant; Magnetic Resonance Imaging; Male; Medical genetics; Medical sciences; Neostriatum - abnormalities; Neurologic Examination; Neuronal heterotopia; Neuropathology; Parietal Lobe - abnormalities; Twins; Neuropathology; Cerebro-oculo-facio-skeletal (COFS) syndrome; Neuronal heterotopia; Human; Cerebrooculofacioskeletal syndrome; Case study; Pathology; Eye disease; Nervous system diseases; Autopsy; Diseases of the osteoarticular system; Infant; Genetic disease
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/S0387-7604(96)00057-5

An autopsy case is described of an infant with cerebro-oculo-facio-skeletal (COFS) (Pena-Shokeir II) syndrome who died of pneumonia at the age of 5 months, and the pathology of the CNS in this case and the cases in literature were reviewed. Neuropathological examination revealed a partial defect of the corpus callosum, lobulation of the caudate nucleus and putamen, polymicrogyria in the parietal lobes and neuronal heterotopia in the cerebral and cerebellar white matter. The migration disorders suggest that the onset starts in the early fetal period.