Sturge-Weber Syndrome: A Boy with Port-wine Stain and Seizure

Maliha Hakim^1, , Mashfiqul Hasan¹, Mahmudul Islam¹, Mohammad Akter Hossain¹, Jobaida Naznin¹ and Saifur Rahman Khan¹

¹Department of Neurology, National Institute of Neurosciences and Hospital, Dhaka, Bangladesh

Cite this paper

Maliha Hakim, Mashfiqul Hasan, Mahmudul Islam, Mohammad Akter Hossain, Jobaida Naznin and Saifur Rahman Khan. Sturge-Weber Syndrome: A Boy with Port-wine Stain and Seizure. American Journal of Medical Case Reports. 2019; 7(7):121-124. doi: 10.12691/AJMCR-7-7-1

Abstract

Neurocutaneous disorders are a heterogeneous group of genetic disorders that include Sturge-Weber syndrome (SWS), which is characterized by congenital capillary-venous malformation manifesting as port-wine stain, leptomeningeal angiomatosis and ocular angiomas. Diagnosis is made when at least two of these three areas are involved. Abnormal vessels lead to stasis and congestion resulting in decreased regional perfusion and eventually cause hypoxic brain injury with neuronal loss and gliosis. Seizures are common neurological manifestation in SWS patients and many patients have intractable seizures, eventually leading to motor deficits or developmental and cognitive delays. Here we report a case of a 16-year-old boy who presented with typical port-wine stain and seizure disorder since childhood. Neuroimaging revealed evidence of cerebral vascular malformation ipsilateral to the cutaneous lesion. Seizure was controlled with antiepileptic drugs. Early diagnosis and prompt treatment may reduce the incidence of neurologic sequelae. Proper counselling is necessary to improve compliance.

Keywords

Sturge-Weber syndrome, seizure, port-wine stain

Copyright

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