Lethal neonatal Menkes' disease with severe vasculopathy and fractures

R P Jankov, C F Boerkoel, J Hellmann, W L Sirkin, Z Tümer, N Horn, A Feigenbaum

Abstract

A male neonate presented with an acute onset of severe intra-abdominal bleeding, haemorrhagic shock and multiple fractures leading to death on d 27. Menkes' disease was diagnosed at autopsy and confirmed by copper accumulation studies on cultured fibroblasts. Such an early onset of fatal complications in this condition has not been previously reported. New insights into the pathogenesis of Menkes' disease provided by DNA mutation analysis and difficulties in neonatal diagnosis are discussed. Menkes' disease should be considered in male infants with pathological fractures and other signs of connective tissue disease, even in the neonatal period.

OriginalsprogEngelsk
TidsskriftActa paediatrica
Vol/bind87
Udgave nummer12
Sider (fra-til)1297-300
Antal sider4
ISSN0803-5253
DOI
StatusUdgivet - dec. 1998
Udgivet eksterntJa

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