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BMC Neurology

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Open Access 01-12-2013 | Case report

Sturge-Weber syndrome coexisting with episodes of rhabdomyolysis

Authors: Min Zhu, Xiaobin Li, Meihong Zhou, Hui Wan, Yuchen Wu, Daojun Hong

Published in: BMC Neurology | Issue 1/2013

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.

Case presentation

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.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2377/13/169/prepub

Title: Sturge-Weber syndrome coexisting with episodes of rhabdomyolysis
Authors: Min Zhu
Xiaobin Li
Meihong Zhou
Hui Wan
Yuchen Wu
Daojun Hong
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: BMC Neurology / Issue 1/2013
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/1471-2377-13-169

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Sturge-Weber syndrome coexisting with episodes of rhabdomyolysis

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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