一名患有甲羟戊酸尿症的八个月大儿童出现肠梗阻。
An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria.
作者信息
Nimubona L, Laloum D, Rolland M O, Read M H, Guillois B, Duhamel J F
机构信息
Department of Neonatology, Caen University Hospital, France.
出版信息
Acta Paediatr. 2002;91(6):714-6. doi: 10.1080/080352502760069179.
UNLABELLED
This report describes a case of mevalonate kinase deficiency diagnosed at 1 mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo.
CONCLUSION
Mevalonate kinase deficiency has variable clinical and biological signs which can lead to a delay in diagnosis. This is the first reported occurrence of bowel obstruction in this disease and the resemblance to a congenital infection in the neonatal period must be emphasized.
未标注
本报告描述了一例1月龄时诊断为甲羟戊酸激酶缺乏症的病例。出生后不久，症状提示先天性感染。8月龄左右发生了肠梗阻。
结论
甲羟戊酸激酶缺乏症具有多种临床和生物学体征，可导致诊断延迟。这是该疾病中首次报道的肠梗阻病例，必须强调新生儿期与先天性感染的相似性。
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