Neuropathology of infant with Pena-Shokeir I syndrome

• Published in: Pediatric neurology Vol. 10; no. 3; pp. 241 - 243
• Main Authors: Takada, Eiko, Koyama, Norihisa, Ogawa, Yuunosuke, Itoyama, Shinji, Takashima, Sachio
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.05.1994; Elsevier
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Ankylosis - genetics; Ankylosis - pathology; Biological and medical sciences; Brain - abnormalities; Brain - pathology; Complex syndromes; Demyelinating Diseases - genetics; Demyelinating Diseases - pathology; Female; Humans; Infant; Medical genetics; Medical sciences; Myelin Sheath - pathology; Nerve Fibers, Myelinated - pathology; Neurons - pathology; Peripheral Nervous System Diseases - genetics; Peripheral Nervous System Diseases - pathology; Spinal Cord - abnormalities; Spinal Cord - pathology; Spinal Nerve Roots - abnormalities; Spinal Nerve Roots - pathology; Syndrome; Human; Case study; Nervous system diseases; Malformation; Central nervous system disease; Female; Infant; Peripheral nerve disease; Complex syndrome; Cerebral disorder; Genetic disease
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/0887-8994(94)90031-0

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.