Dementia in a child with myotubular myopathy

Pediatr Neurol. 2009 Jun;40(6):483-5. doi: 10.1016/j.pediatrneurol.2009.01.005.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Dementia / complications*
  • Dementia / metabolism
  • Humans
  • Male
  • Myopathies, Structural, Congenital / complications*
  • Myopathies, Structural, Congenital / metabolism
  • Protein Tyrosine Phosphatases, Non-Receptor / metabolism

Substances

  • Protein Tyrosine Phosphatases, Non-Receptor
  • myotubularin