Abstract
BackgroundSturge-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 presentationA 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.ConclusionsWe report the first case that Sturge-Weber syndrome coexists with episodes of rhabdomyolysis associated with lipid metabolic myopathy.
Highlights
Sturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders
We report the first case that Sturge-Weber syndrome coexists with episodes of rhabdomyolysis associated with lipid metabolic myopathy
Sturge-Weber syndrome (SWS), known as encephalofacial angiomatosis, is a congenital neurocutaneous disorder characterized by facial port-wine stains, leptomeningeal angioma, oculopathy, and neurological problems including seizures, stroke-like episodes, mental retardation, migraine, and hemiparesis [1,2]
Summary
Sturge-Weber syndrome (SWS), known as encephalofacial angiomatosis, is a congenital neurocutaneous disorder characterized by facial port-wine stains, leptomeningeal angioma, oculopathy, and neurological problems including seizures, stroke-like episodes, mental retardation, migraine, and hemiparesis [1,2]. She was in comatose state, accompanied by episodes of twitching that began at left face, soon spread to left limbs She had extensive port-wine stains distributing in both sides of her face, which extended to her neck, trunk, and limbs (Figure 1A, 1C). On the 50th day after admission, port-wine stains were slightly faded and narrowed; muscle strength of left limbs was 4+/5 grade; aphasia was relieved; serum creatine kinase, urea nitrogen and creatinine were back to level of normal references. This girl experienced a similar clinical course again at 7 months after discharge
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