Acute onset of infantile spinal muscular atrophy

Two patients with acute generalized weakness and areflexia are presented. T he electrophgsiologic studies in both revealed evidence of decreased conduc tion velocity and mixed axonal and demyelinating neuropathy, suggestive of the diagnosis of Guillain-Barre syndrome. The young ages of the patients an d their failure to respond to immunoglobulin therapy were the major clues t o the final diagnosis of spinal muscular atrophy type I. Blood for DNA stud y revealed homozygous deletion mutation in exons 7 and 8 of the survival mo tor neuron gene. This diagnosis should be considered in every child under 1 year of age who presents with acute weakness because Guillain-Barre syndro me in this age group is rare, (C) 2001 by Elsevier Science Inc. All rights reserved.