Wu Jin-Lin, Chen Juan, Qiu Li, Gong Xiao-Yuan
Department of Neonatology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2008 Jun;10(3):301-3.
Hypophosphatasia is a rare inborn disease of metabolism. This paper reviewed its pathogenesis, forms, clinical manifestations, differential diagnosis,treatment and prognosis. Here a case of neonatal hypophosphatasia is reported. This baby was female (30 minutes old). Prenatal ultrasound showed disproportionate biparietal diameter and long bones of limbs in the baby. After birth, she presented with obvious craniomalacia, respiratory distress and cyanosis. Serum alkaline phosphatase level was significantly reduced. Both X-ray and autopsy showed extremely insufficient skeletal mineralization. Four days later she died of respiratory failure.
低磷酸酯酶症是一种罕见的先天性代谢疾病。本文回顾了其发病机制、类型、临床表现、鉴别诊断、治疗及预后。现报告一例新生儿低磷酸酯酶症病例。该婴儿为女性（出生30分钟）。产前超声显示婴儿双顶径与四肢长骨比例失调。出生后，她出现明显的颅骨软化、呼吸窘迫和发绀。血清碱性磷酸酶水平显著降低。X线检查和尸检均显示骨骼矿化严重不足。四天后，她死于呼吸衰竭。
