Dementia in a Child with Myotubular Myopathy

An 8-year old boy with genetically confirmed X-linked myotubular myopathy developed progressively worsening dementia and subclinical seizures at age 5-6 years. Previously, seizures or dementia have been noted in only a small number of myotubular myopathy patients, and only in association with signif...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric neurology 2009-06, Vol.40 (6), p.483-485
Main Authors: McCrea, Heather J., PhD, Kretz, Christine, Laporte, Jocelyn, PhD, Ment, Laura R., MD
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Dementia
Dementia - complications
Dementia - metabolism
Diseases of striated muscles. Neuromuscular diseases
Humans
Male
Medical sciences
Myopathies, Structural, Congenital
Myopathies, Structural, Congenital - complications
Myopathies, Structural, Congenital - metabolism
Neurology
Pediatrics
Protein Tyrosine Phosphatases, Non-Receptor
Protein Tyrosine Phosphatases, Non-Receptor - metabolism
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:An 8-year old boy with genetically confirmed X-linked myotubular myopathy developed progressively worsening dementia and subclinical seizures at age 5-6 years. Previously, seizures or dementia have been noted in only a small number of myotubular myopathy patients, and only in association with significant metabolic disturbances. This patient had no evidence of hypoxemia or other metabolic disturbance. The present case suggests that the clinical spectrum of X-linked myotubular myopathy is broader than previously considered and may include mutation-dependent central nervous system disease.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2009.01.005