Nova Scotia Niemann-Pick disease (type D): Clinical study of 20 cases.
Title
Nova Scotia Niemann-Pick disease (type D): Clinical study of 20 cases.
Creator
Jan MM; Camfield PR
Identifier
Publisher
Journal Of Child Neurology
Date
1998
Subject
Child; Female; Humans; Male; Longitudinal Studies; Nova Scotia; Preschool; cause of death; Age of Onset; Niemann-Pick Diseases/epidemiology/genetics/pathology
Description
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.
1998
Rights
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
Journal Article
Citation List Month
Backlog
URL Address
Citation
Jan MM; Camfield PR, “Nova Scotia Niemann-Pick disease (type D): Clinical study of 20 cases.,” Pediatric Palliative Care Library, accessed April 20, 2024, https://pedpalascnetlibrary.omeka.net/items/show/11849.