RESPIRATORY DISTRESS AS THE INITIAL MANIFESTATION OF WERDNIG-HOFFMANN DISEASE

Two infants with Werdnig-Hoffmann disease presented with respiratory distress after an initial asymptomatic interval of one to two months. In both patients the finding of bilateral eventration of the diaphragm prior to the loss of deep tendon reflexes or other evidence of muscle weakness led to surgical repair in an attempt to ameliorate the respiratory difficulty. The underlying progressive neuromuscular disease did not become apparent until 3 to 4 months of age and was confirmed in each instance by muscle biopsy and by postmortem examination. We speculate that other infants presenting early in life with fatal respiratory distress of unknown etiology may also have this unusual variant of Werdnig-Hoffmann disease.