RESUMO
Two siblings and a third child exhibited a syndrome of progressive muscular weakness and wasting, closely resembling Werdnig-Hoffmann's disease. Autopsy of one of the siblings and the third child showed nearly total absence of myelin sheaths in the cranial and spinal nerve roots, relative preservation of axons, and normal neurons in the motor cranial nerve nuclei and anterior spinal gray matter. The mother of the siblings had bilateral pes cavus, and the father of the third child had a sensory-motor polyneuropathy dating to childhood, associated with pes cavus and scoliosis. The disorder in these children and in a few similar cases in the literature shares some features of Charcot-Marie-Tooth disease and the hypertrophic neuropathy of Dejerine-Sottas, but it is difficult to classify as either of these familial neuropathies as presently defined. Elevation of cerebrospinal fluid protein is a useful finding in distinguishing such children from patients with Werdnig-Hoffmann's disease.
Assuntos
Atrofia Muscular/genética , Polirradiculopatia , Raízes Nervosas Espinhais , Proteínas do Líquido Cefalorraquidiano/análise , Doença Crônica , Nervos Cranianos/patologia , Feminino , Gânglios Espinais/patologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Atrofia Muscular/líquido cefalorraquidiano , Atrofia Muscular/patologia , Bainha de Mielina/patologia , Polirradiculopatia/genética , Polirradiculopatia/patologia , Nervo Isquiático/patologia , Raízes Nervosas Espinhais/patologia , Nervo Sural/patologia , SíndromeRESUMO
The frequency of the two tau-fractions in isoelectric focusing examination of cerebrospinal fluid proteins has been studied in 674 neurological patients. The double tau-fraction was found in 151 patients (22.4%); this finding was not characteristically associated with any particular disease, but its frequency was high in hereditary diseases (13 cases out of 30; 43.3%), mainly Charcot-Marie-Tooth's disease.