Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

Neuromuscul Disord. 2019 Jan;29(1):67-69. doi: 10.1016/j.nmd.2018.11.006. Epub 2018 Nov 22.

Abstract

We present a 29-year-old man with visual failure since childhood, muscle weakness, subtle heart muscle hypertrophy, and seizures who was initially considered to be affected by a mitochondrial encephalomyopathy because of the multiple unspecific involvement of brain, muscle and retinal tissues. Only the muscle biopsy findings correctly guided the genetic investigations and the identification of an autophagic vacuolar myopathy due to a homozygous mutation in CLN3. We believe that information in autophagic muscle disorders should further alert clinicians to consider CLN3 in individuals with vacuolar myopathy, especially if they have visual and cardiac involvement.

Keywords: Batten disease; CLN3; High CPK; Neuronal ceroid lipofuscinosis; Vacuolar myopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain / diagnostic imaging
  • Humans
  • Lysosomal Storage Diseases / diagnosis*
  • Lysosomal Storage Diseases / genetics*
  • Lysosomal Storage Diseases / pathology
  • Male
  • Membrane Glycoproteins / genetics*
  • Molecular Chaperones / genetics*
  • Muscles / pathology
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Mutation*
  • Neuronal Ceroid-Lipofuscinoses / diagnosis
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Neuronal Ceroid-Lipofuscinoses / pathology

Substances

  • CLN3 protein, human
  • Membrane Glycoproteins
  • Molecular Chaperones

Supplementary concepts

  • Vacuolar myopathy