Abstract
Four children from two families with characteristics of Marinesco-Sjogren 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/l 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-Sjogren syndrome.
Key words
Marinesco Sjogren syndrome - Myopathy - Neuropathy - Rhabdomyolysis
