Digital necrosis in an infant with severe spinal muscular atrophy.

Abstract

Spinal muscular atrophy (SMA) is the leading genetic cause of death for infants.1,2 Digital necrosis is an ultra-rare manifestation of this disease, and its etiology has yet to be elucidated.4,5 We present a child who was referred to genetics for extensive digital necrosis after cardiac surgery. The infant was ultimately diagnosed with SMA by single gene testing that revealed a homozygous deletion of exons 7 and 8 on the SMN1 gene. SMA is a motor neuron disorder typically presenting with neurologic symptoms but should be considered in any infant with digital necrosis.