title: Sturge-Weber syndrome coexisting with episodes of rhabdomyolysis.
abstract: BACKGROUND
  Sturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders. Sturge-Weber syndrome can coexist with other disorders in a few patients; however, muscular abnormalities have not been reported in patients with Sturge-Weber syndrome.
  
  
  METHODS
  A Chinese girl presented with extensive port-wine stains, congenital bilateral glaucoma, and leptomeningeal angiomatosis. The neurocutaneous symptoms were consistent with the diagnostic criteria of Sturge-Weber syndrome. Meanwhile, episodes of rhabdomyolysis were supported by the recurrent symptoms as follows: exercise intolerance, hyperCKmia, elevated serum myoglobin, and renal failure. Myopathological features and high level of blood long-chain acyl-carnitine indicated that episodes of rhabdomyolysis might be caused by lipid metabolic myopathy. Causative mutations were not found in the CPT2, ACADVL, and GNAQ gene.
  
  
  CONCLUSIONS
  We report the first case that Sturge-Weber syndrome coexists with episodes of rhabdomyolysis associated with lipid metabolic myopathy.
authors.forename: Min
authors.initials: M
authors.lastname: Zhu
authors.forename: Xiaobin
authors.initials: X
authors.lastname: Li
authors.forename: Meihong
authors.initials: M
authors.lastname: Zhou
authors.forename: Hui
authors.initials: H
authors.lastname: Wan
authors.forename: Yuchen
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Neurology, The first affiliated hospital of Nanchang University, Yong Wai Zheng Street 17#, Nanchang 330006, P,R, China. hongdaojun@hotmail.com.
authors.forename: Daojun
authors.initials: D
authors.lastname: Hong
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D012206:Rhabdomyolysis / Q000150:complications* / Q000175:diagnosis*; D013341:Sturge-Weber Syndrome / Q000150:complications* / Q000175:diagnosis*