Sudden death in an 8-week-old infant with Beckwith-Wiedemann syndrome

The authors report a case of a 2-month-old girl diagnosed with Beckwith-Wie demann syndrome (BWS) who was born prematurely and died suddenly in the hos pital just before being discharged. BWS is a malformation syndrome associat ed with an increased risk of childhood tumors. The major features of BWS ar e macroglossia, abdominal wall defects, and visceromegaly, frequently leadi ng to premature birth. Due to complex inheritance patterns, a predominance of nonfamilial cases, and the variability in expression of the features (te rmed incomplete penetrance), the risk of delayed diagnosis is evident. Seco ndary to hyperplastic pancreatic islands, hypoglycemia occurs frequently, a nd if not anticipated, adequate measures for prevention of hypoglycemic epi sodes may be delayed, resulting in possible intellectual deficits. The infa nt presented here died of natural causes: immaturity of the lungs resulting in marginal respiratory function and compounded by increased risk for asph yxia secondary to the enlarged tongue. The clinical history and findings in this infant are discussed in respect to the genetic syndrome with their re levance to medicolegal examination and the causes and manner of death.