Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome).
The authors describe the clinical and electrophysiological features in 2 cases of ponto-bulbar palsy with deafness, and the clinical course and post-mortem findings in a sibling of one of these, who died in infancy, and who appears to have suffered from the same disease. The cases are compared with 17 previously published cases, and the disease is discussed in relation to other progressive neurological diseases of childhood.
D000293:Adolescent; D010244:Bulbar Palsy, Progressive / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D003638:Deafness / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004576:Electromyography; D005260:Female; D006181:H-Reflex; D006801:Humans; D009123:Muscle Hypotonia / Q000175:diagnosis; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis; D009431:Neural Conduction; D011149:Pons / Q000473:pathology; D013577:Syndrome