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Sturge - Weber syndrome.

V Kumar1, B K Prasad

  • 1Dept. of Pediatrics, National Medical College & Teaching Hospital, Birgunj, Nepal. drkumarvijay@hotmail.com

Kathmandu University Medical Journal (KUMJ)
|January 3, 2006
PubMed
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Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder. This case highlights SWS in an 8-year-old boy with typical facial and neurological symptoms, emphasizing diagnostic findings.

Area of Science:

  • Neurology
  • Dermatology
  • Genetics

Background:

  • Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder.
  • Characterized by facial vascular malformations and neurological abnormalities.
  • Affects approximately 1 in 50,000 individuals.

Observation:

  • An 8-year-old boy presented with congenital hemiparesis, intellectual disability, and developmental delay.
  • Clinical examination revealed a port-wine nevus on the left lower face.
  • Neurological deficits included weakness in the left upper and lower limbs.

Findings:

  • Intracranial vascular angioma is a hallmark of SWS.
  • Brain imaging showed curvilinear calcifications and focal atrophy.
  • Skull X-ray confirmed calcifications.

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Implications:

  • Early diagnosis and management of SWS are crucial.
  • Understanding SWS aids in predicting and managing associated neurological complications.
  • This case underscores the importance of recognizing SWS in patients with port-wine stains and neurological deficits.