Jan M M, Camfield P R
Department of Pediatrics, IWK-Grace Health Centre and Dalhousie University Medical School, Halifax, Nova Scotia, Canada.
J Child Neurol. 1998 Feb;13(2):75-8. doi: 10.1177/088307389801300206.
Patients with Niemann-Pick type D have been traced to a single Acadian ancestor in Nova Scotia. The objective of this study was to describe the clinical course. A cohort of children with Niemann-Pick type D was identified by chart review. Some children were seen and a telephone interview with the remaining parents was conducted. Twenty children with Niemann-Pick type D were identified. The female to male ratio was 2:1. Five children had severe neonatal jaundice. Early milestones were normal in the majority. Neurologic symptoms generally developed between 5 and 10 years of age with a mean age of 7.2 years at diagnosis. Seizures developed in all between 4.5 and 16 years of age (mean, 10.5 yr), and were followed by significant physical and mental deterioration. The age at death ranged between 11 and 22.5 years (mean, 14.8 yr). In 61%, bronchopneumonia was the cause of death. There is significant variability in the presentation and clinical course of Niemann-Pick type D.
患有尼曼-匹克D型病的患者可追溯到新斯科舍省的一位阿卡迪亚祖先。本研究的目的是描述其临床病程。通过病历审查确定了一组尼曼-匹克D型病患儿。对部分患儿进行了检查，并对其余患儿的家长进行了电话访谈。共确定了20名尼曼-匹克D型病患儿。男女比例为2:1。5名患儿有严重的新生儿黄疸。大多数患儿早期发育里程碑正常。神经症状一般在5至10岁之间出现，诊断时平均年龄为7.2岁。所有患儿在4.5至16岁之间（平均10.5岁）出现癫痫发作，随后出现明显的身体和精神衰退。死亡年龄在11至22.5岁之间（平均14.8岁）。61%的患儿死于支气管肺炎。尼曼-匹克D型病的表现和临床病程存在显著差异。
