Marinesco Sjögren syndrome with rhabdomyolysis. A new subtype of the disease

Neuropediatrics. 1998 Apr;29(2):97-101. doi: 10.1055/s-2007-973542.


Four children from two families with characteristics of Marinesco-Sjögren syndrome (congenital cataract, ataxia) are presented. All children had clinical and neurophysiological signs of a demyelinating polyneuropathy. Three of them developed acute rhabdomyolysis with marked weakness and CK levels of up to 40,000 U/I following a viral infection. In all children CK levels returned to normal within two weeks. Symptoms were recurrent in one of the children and resulted in a severe disability. In two other children recovery of motor function took about a month following the first attack. Metabolic disorders of the muscle were excluded by pathobiochemical examination of a muscle biopsy in one of the children. In conclusion, acute rhabdomyolysis can occur as a neuromuscular complication of Marinesco-Sjögren syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Disease Progression
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Neural Conduction
  • Recurrence
  • Respiratory Tract Infections / complications
  • Rhabdomyolysis / complications*
  • Rhabdomyolysis / pathology
  • Rhabdomyolysis / physiopathology
  • Spinocerebellar Degenerations / classification
  • Spinocerebellar Degenerations / complications*