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[Bilateral Sturge-Weber-Krabbe syndrome. A case report]
B Ouaggag1, T Baha Ali, L Gaboune
1Service d'Ophtalmologie, CHU Mohammed VI-Marrakech, Maroc. ouaggagb@yahoo.fr
Bulletin De La Societe Belge D'Ophtalmologie
|June 13, 2008
Summary
Sturge-Weber-Krabbe syndrome, a rare neuro-oculo-cutaneous disease, typically presents unilaterally. This case highlights an unusual bilateral presentation with severe glaucoma in an 11-year-old male.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Sturge-Weber-Krabbe syndrome is a rare congenital neuro-oculo-cutaneous disorder.
- It classically involves unilateral facial nevus, ipsilateral leptomeningeal angioma, and potential glaucoma.
Observation:
- An 11-year-old male presented with bilateral facial nevus flammeus and severe bilateral glaucoma.
- Cerebral calcifications were noted, but the patient remained asymptomatic neurologically.
Findings:
- This case represents an unusual bilateral variant of Sturge-Weber-Krabbe syndrome.
- The bilateral presentation, particularly with severe glaucoma and lack of neurological symptoms, is noteworthy.
Implications:
- Highlights the importance of recognizing atypical presentations of Sturge-Weber-Krabbe syndrome.
- Suggests potential genotype-phenotype correlations influencing disease manifestation and prognosis.
- Emphasizes the need for comprehensive ophthalmological evaluation in suspected cases, regardless of neurological status.
