Congenital retardation and central motor defect with later evolution of seizure disorder, orofacial dysplasia, and amyotrophy. A clinicopathologic report.
Retarded mental and motor development was observed during the first year of life of a full-term female who had been delivered with difficulty. Generalized psychomotor seizures and dysplastic "acromegalic" facial changes began to develop when she was 8 years old, and generalized amyotrophy developed over the next several years. The course was generally progressive, and she died at age 31. A variety of clinical laboratory studies were nondiagnostic. Autopsy findings showed normal brain weight and normal-appearing cerebral hemispheres, a peculiar atrophy of the inferior portion of the cerebellar hemispheres, a demyelinating process in the dorsal columns of the cervical and thoracic spinal cord, and lateral column and motor neuron degeneration. The pathogenesis of the syndrome is undetermined.
D000328:Adult; D000367:Age Factors; D002525:Cerebellar Cortex / Q000473:pathology; D005145:Face; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000473:pathology; D009468:Neuromuscular Diseases / Q000150:complications* / Q000473:pathology; D012640:Seizures / Q000150:complications* / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013577:Syndrome