Jankov R P, Boerkoel C F, Hellmann J, Sirkin W L, Tümer Z, Horn N, Feigenbaum A
Division of Neonatology, Hospital for Sick Children, Toronto, Ontario, Canada.
Acta Paediatr. 1998 Dec;87(12):1297-300. doi: 10.1080/080352598750031013.
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.
一名男性新生儿出现急性严重腹腔内出血、失血性休克和多处骨折，于第27天死亡。尸检诊断为门克斯病，并通过对培养的成纤维细胞进行铜蓄积研究得到证实。此前尚未报道过这种疾病如此早地出现致命并发症。讨论了DNA突变分析为门克斯病发病机制提供的新见解以及新生儿诊断的困难。即使在新生儿期，对于有病理性骨折和其他结缔组织疾病体征的男婴，也应考虑门克斯病。
