Sturge-Weber Syndrome: A Case Report

JNMA J Nepal Med Assoc. 2023 Nov 1;61(267):890-892. doi: 10.31729/jnma.8344.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants
  • Brain
  • Child, Preschool
  • Humans
  • Port-Wine Stain* / complications
  • Port-Wine Stain* / diagnosis
  • Seizures / etiology
  • Sturge-Weber Syndrome* / complications
  • Sturge-Weber Syndrome* / diagnosis
  • Sturge-Weber Syndrome* / epidemiology

Substances

  • Anticonvulsants