Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report.

BACKGROUND

Sturge-Weber syndrome (SWS) is a rare and sporadic congenital neurocutaneous disorder, that is characterized by facial venous capillary malformation (port-wine birthmark), leptomeningeal venous malformation (angiomatosis), glaucoma, and neurologic problems. SWS can comorbid with other disorders in some patients, however, muscular abnormalities have still not been reported in patients with SWS.

CASE PRESENTATION: A forty-one-year-old Chinese female who had left side port-wine stain, ipsilateral glaucoma, and hypothyroidism was included in the present study. The neurocutaneous and endocrine symptoms were consistent with the SWS diagnostic criteria. Meanwhile, the patient had progressive weakness on her both arms and legs, dramatically elevated creatine kinase (CK) and myoglobin levels, and elevated antinuclear and anti-Ro52 antibodies. Intravenous methylprednisolone (MP) (80 mg/d), methotrexate, and intravenous cyclophosphamide were administrated and the weakness of the patient was gradually relieved with normal serum CK level.

CONCLUSIONS

We reported the first case of SWS comorbid with inflammatory myopathy. The underlying mechanism for SWS and idiopathic inflammatory myopathy is still not clear, and further researches need to be conducted to deeply explore the mentioned mechanism.