title: Neuropathology of infant with Pena-Shokeir I syndrome.
abstract: In an infant with clinical features of Pena-Shokeir I syndrome, who survived for 182 days, neuropathologic examination revealed little myelination in peripheral nerves with group atrophy of muscle fibers, dysplasia of inferior olivary and dentate nuclei, and leptomeningeal heterotopia. Congenital peripheral neuropathy associated with minor brain anomalies is characteristic in this patient, and may cause absence of fetal movements leading to ankylosis of multiple joints, absence of breathing in association with pulmonary hypoplasia, absence of swallowing causing polyhydramnios, and absence of movements of facial muscles causing craniofacial anomalies.
authors.affiliation: Department of Pediatrics, Saitama Medical School, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Takada
authors.forename: N
authors.initials: N
authors.lastname: Koyama
authors.forename: Y
authors.initials: Y
authors.lastname: Ogawa
authors.forename: S
authors.initials: S
authors.lastname: Itoyama
authors.forename: S
authors.initials: S
authors.lastname: Takashima
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000844:Ankylosis / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D003711:Demyelinating Diseases / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D009186:Myelin Sheath / Q000473:pathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009474:Neurons / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000473:pathology; D013116:Spinal Cord / Q000002:abnormalities* / Q000473:pathology; D013126:Spinal Nerve Roots / Q000002:abnormalities / Q000473:pathology; D013577:Syndrome