title: Marinesco Sjögren syndrome with rhabdomyolysis. A new subtype of the disease.
abstract: 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.
authors.affiliation: Friedrich-Baur-Institut, University of Munich, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Müller-Felber
authors.forename: D
authors.initials: D
authors.lastname: Zafiriou
authors.forename: R
authors.initials: R
authors.lastname: Scheck
authors.forename: I
authors.initials: I
authors.lastname: Pätzke
authors.forename: M
authors.initials: M
authors.lastname: Toepfer
authors.forename: D E
authors.initials: DE
authors.lastname: Pongratz
authors.forename: U
authors.initials: U
authors.lastname: Walther
mesh_terms: D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000150:complications; D012206:Rhabdomyolysis / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000150:complications*