मस्तिष्क संबंधी विकार

Sturge Weber Syndrome - A Case Report with Literature Review

Abstract

Eghosa Morgan, Usifoh Itaman, Chinonye Okparajiego, Charles Bini-Oshvire, Lucky Ehiagwina and Ezemwenghian Morgan

Sturge Weber syndrome (SWS) is a rare neurocutaneous disorder. It is characterized by the abnormalities affecting the brain (pial angiomata), skin (facial port-wine birthmark) and eyes (commonly) glaucoma. It is a congenital, nonfamilial and sporadic condition associated with somatic mutation in GNAQ gene. Symptoms report varies in severity and age of onset, but it is commonly detected in infancy. This case illustration is that of a 4-year old who presented with fever and focal seizure with secondary generalization. Examination revealed quadriparesis, more marked in the right lower limb. Brain computerized tomography (CT) scan showed gyral calcification, atrophy of the cerebral hemisphere and early cerebritis. She was commenced on anti-epileptic drugs(AED), antibiotics and supportive care.