RESUMO
We present seven cases of progressive ataxia with onset in childhood along with pathological findings in three patients. One patient showed pure cerebellar degeneration and had no visual changes. His brother had classic changes of olivopontocerebellar atrophy with profound amyotrophy but no visual changes. A third family member had similar findings with pathological findings intermediate in severity between the first two. The mother and daughter, who are living, are ataxic and have macular degeneration. In a second pedigree, all patients affected in three generations were male, but the disease began during adulthood in the first two generations. Myoclonic seizures occurred in the majority of patients.
Assuntos
Encéfalo/patologia , Doenças Cerebelares/patologia , Núcleo Olivar , Ponte , Adolescente , Ataxia/patologia , Encefalopatias/genética , Encefalopatias/patologia , Cerebelo/patologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem , Ponte/patologia , Medula Espinal/patologiaRESUMO
A previously well 9-year-old boy developed acute autonomic and sensory neuropathy. Recovery was incomplete over a thirteen-month period. Spinal fluid protein was increased during the acute phase. Sensory nerve potentials were absent in the presence of normal motor and mixed nerve conduction velocities. Sural nerve biopsy revealed marked axonal degeneration of myelinated as well as unmyelinated fibers. This case represents a widespread acute ganglionopathy of unknown cause.
Assuntos
Doenças do Sistema Nervoso Autônomo/diagnóstico , Doenças do Sistema Nervoso Periférico/diagnóstico , Sensação , Doença Aguda , Doenças do Sistema Nervoso Autônomo/patologia , Criança , Histamina , Humanos , Masculino , Condução Nervosa , Nervos Periféricos/patologia , Doenças do Sistema Nervoso Periférico/patologiaRESUMO
Five pediatric patients with subacute onset polyneuropathy are presented, with electrophysiologic and pathologic data. All patients improved, the majority to resolution, with administration of prednisone. Distinguishing factors included (1) subacute onset polyneuropathy progressing gradually over weeks to months, (2) primarily motor neuropathy with little cranial nerve involvement, (3) elevated CSF protein concentration, (4) markedly delayed nerve conduction velocities, and (5) tendency toward relapse and recurrence. Although this disorder may share characteristics with the Guillain-Barré syndrome, its steroid responsiveness sets it apart clinically from the acute form of the disease. Because of the steroid responsiveness, it is important to recognize this entity.
