Sturge-Weber Syndrome: A Case Report.

Autor: Timilsina S; Department of General Practice and Emergency Medicine, Shree Birendra Hospital, Chhauni, Kathmandu, Nepal., Kunwor B; Nepalese Army Institute of Health Sciences, Sanobharyang, Kathmandu, Nepal., Thapa Chhetri S; Nepalese Army Institute of Health Sciences, Sanobharyang, Kathmandu, Nepal., Nepal S; Department of General Practice and Emergency Medicine, Shree Birendra Hospital, Chhauni, Kathmandu, Nepal., Sedhai K; Department of Internal Medicine, Manmohan Cardiothoracic Center, Maharajgunj, Kathmandu, Nepal.
Jazyk: angličtina
Zdroj: JNMA; journal of the Nepal Medical Association [JNMA J Nepal Med Assoc] 2023 Nov 01; Vol. 61 (267), pp. 890-892. Date of Electronic Publication: 2023 Nov 01.
DOI: 10.31729/jnma.8344
Abstrakt: Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome with an incidence of 1 in 50000 characterised by facial capillary malformation and vascular anomalies in the brain and eye. We present the case of a five-year-old child diagnosed with Sturge-Weber syndrome. The patient exhibited high-grade fever, headaches, and generalized tonic-clonic seizures. The history revealed a port-wine stain on the face and a history of seizures from the age of four months. Diagnostic imaging confirmed the presence of leptomeningeal vascular malformation, calcification in the brain, and abnormal electroencephalogram patterns, establishing the diagnosis of Sturge-Weber syndrome. Treatment with antiepileptic drugs led to seizure control. This case underscores the importance of early diagnosis and tailored treatment strategies for patients with Sturge-Weber syndrome.
Keywords: brain; case reports; port-wine stain; seizures; Sturge-Weber syndrome.
Databáze: MEDLINE