Kritsaneepaiboon S, Jaruratanasirikul S, Dissaneevate S
Department of Radiology, Faculty of Medicine, Prince of Songkla University, Hat-Yai, Songkhla 90110, Thailand.
Singapore Med J. 2006 Nov;47(11):987-92; quiz 993.
A two-hour-old female infant presented with respiratory distress and short limbs. Neonatal radiographs showed micromelic dwarfism and generalised demineralisation, especially at the ribs, long bones of both forearms and both fibulae. The spine showed a flattened shape. All long bones showed metaphyseal irregularities and flaring. Normal serum calcium and elevated serum phosphorus were found, while serum alkaline phosphatase was markedly reduced. A diagnosis of perinatal lethal hypophosphatasia was made. The aetiology, clinical manifestations, radiographical findings, laboratory assays, prenatal diagnosis and treatment of hypophosphatasia are discussed.
一名两小时大的女婴出现呼吸窘迫和四肢短小。新生儿X线片显示短肢侏儒症和全身骨质脱矿，尤其是肋骨、双侧前臂长骨和双侧腓骨。脊柱呈扁平状。所有长骨均显示干骺端不规则和增宽。血清钙正常，血清磷升高，而血清碱性磷酸酶明显降低。诊断为围生期致死性低磷酸酯酶症。本文讨论了低磷酸酯酶症的病因、临床表现、影像学表现、实验室检查、产前诊断和治疗。
