SUDDEN-INFANT-DEATH-SYNDROME (SIDS) IN A FAMILY WITH MYOPHOSPHORYLASEDEFICIENCY

A previously healthy girl died suddenly and unexpectedly at three mont hs of age in her sleep and an autopsy failed to reveal an adequate cau se of death. As the father was known to have myophosphorylase (PPL) de ficiency (McArdle's disease), we performed molecular genetic analysis of the PPL gene in autopsy muscle of the proposita. The girl was homoz ygous for the nonsense mutation at codon 49 most commonly associated w ith typical McArdle's disease. This report suggests that among childre n presenting as Sudden Infant Death Syndrome (SIDS) there may be cases associated with myophosphorylase deficiency. (C) 1997 Elsevier Scienc e B.V.