Lethal neonatal Menkes' disease with severe vasculopathy and fractures

A male neonate presented with an acute onset of severe intra-abdominal blee ding, haemorrhagic shock and multiple fractures leading to death on d 27. M enkes' disease was diagnosed at autopsy and confirmed by copper accumulatio n studies on cultured fibroblasts. Such an early onset of fatal complicatio ns in this condition has not been previously reported. New insights into th e pathogenesis of Menkes' disease provided by DNA mutation analysis and dif ficulties in neonatal diagnosis are discussed. Menkes' disease should be co nsidered in male infants with pathological fractures and other signs of con nective tissue disease, even in the neonatal period.