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

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

Citation

Jan MM; Camfield PR, “Nova Scotia Niemann-Pick disease (type D): Clinical study of 20 cases.,” Pediatric Palliative Care Library, accessed February 24, 2024, https://pedpalascnetlibrary.omeka.net/items/show/11849.