Publication:

Sturge-weber syndrome: a case report with complex presentations

Sturge-Weber syndrome (SWS), a rare, congenital phakomatosis is the fourth among the neurocutaneous syndromes and is characterized by facial nevus flammeus, leptomeningeal angioma and glaucoma. It is also manifested as cutaneous, neurological, ophthalmic and behavioral symptoms. It is diagnosed primarily via cerebral abnormalities noted in MRI and CT scans. This case report discusses the complexity of Sturge-weber syndrome with conditions such as Hepatitis A and sickle cell anemia. We report a case of a 11-year-old male patient presented with Convulsions and birthmark over left-side of the face. SWS was confirmed by left cerebral atrophy while HPLC and Hepatitis A virus IgM antibody suggested sickle cell trait and Hepatitis A respectively. Symptomatic treatment was given and the patient was counseled to adhere to the anti-epileptics. Additionally, dye-laser photocoagulation was suggested as an intervention to remove port-wine facial birthmark. SWS is a rare phakomatosis and diagnosis can be done via characteristic symptoms and Imaging techniques. As it is incurable, emphasis is placed on proper prognosis and symptomatic treatment, with a focus on managing co-morbidities.