Acute onset of infantile spinal muscular atrophy.
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.
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Division of Pediatric Neurology, Schneider Children's Hospital, New Hyde Park, NY 11040, USA.
Topper
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Eviatar
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D000208:Acute Disease; D002872:Chromosome Deletion; D017362:Cyclic AMP Response Element-Binding Protein; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons; D005260:Female; D020275:Guillain-Barre Syndrome / Q000175:diagnosis; D006801:Humans; D007223:Infant; D009419:Nerve Tissue Proteins / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins