Acute onset of infantile spinal muscular atrophy.
Autor(es): Ravid S,Topper L,Eviatar L
Resumo: Two patients with acute generalized weakness and areflexia are presented. The electrophysiologic studies in both revealed evidence of decreased conduction velocity and mixed axonal and demyelinating neuropathy, suggestive of the diagnosis of Guillain-Barré syndrome. The young ages of the patients and their failure to respond to immunoglobulin therapy were the major clues to the final diagnosis of spinal muscular atrophy type I. Blood for DNA study revealed homozygous deletion mutation in exons 7 and 8 of the survival motor neuron gene. This diagnosis should be considered in every child under 1 year of age who presents with acute weakness because Guillain-Barré syndrome in this age group is rare.
Imprenta: Pediatric Neurology, v. 24, n. 5, p. 371-372, 2001
Identificador do objeto digital: 10.1016/S0887-8994(01)00271-5
Descritores: Guillain-Barre Syndrome - DNA ; Guillain-Barre Syndrome - Genome ; Guillain-Barre Syndrome - Pathogenesis ; Guillain-Barre Syndrome - Proteins ; Guillain-Barre Syndrome - RNA
Data de publicação: 2001