Childhood dermatomyositis associated with intracranial tumor and liver cysts

Eur J Paediatr Neurol. 2007 Mar;11(2):76-80. doi: 10.1016/j.ejpn.2006.11.004. Epub 2006 Dec 28.

Abstract

We present a girl with dermatomyositis, liver cysts and choroid plexus papilloma who was treated and followed for 7 years. Muscle histology revealed an inflammatory muscle disease and similar changes were detected in a brain tumor that was surgically removed at onset. Western blot analysis of the muscle revealed severely reduced calpain-3 protein. She was treated with pulse methylprednisolone treatment (800 mg i.v. for 4 days) followed by oral prednisone treatment (16 mg on alternate day) for 14 months, which improved muscle strength. Moreover, the cystic liver formations disappeared during steroid treatment. This is an unusual association of muscular disorder, steroid-responsive liver cysts, intracranial tumor and secondary calpain-3 deficiency. We speculate that this association is not coincidental, but mediated by an autoimmune attack against an antigen that is shared among the target tissues.

Publication types

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

MeSH terms

  • Antigens, CD / metabolism
  • Calpain / metabolism
  • Cerebral Ventricle Neoplasms / complications*
  • Child
  • Cysts* / pathology
  • Dermatomyositis / etiology*
  • Dermatomyositis / pathology
  • Female
  • Humans
  • Liver Diseases / complications*
  • Liver Diseases / pathology
  • Magnetic Resonance Imaging / methods
  • Muscle Proteins / metabolism
  • Muscle, Skeletal / metabolism
  • Paraneoplastic Syndromes / etiology
  • Paraneoplastic Syndromes / pathology*
  • Ultrasonography

Substances

  • Antigens, CD
  • Muscle Proteins
  • CAPN3 protein, human
  • Calpain