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Sturge Weber syndrome
S C Chaudhary1, S K Sonkar, Vivek Kumar
1Department of Medicine, C.S.M. Medical University, Lucknow, Uttar Pradesh.
The Journal of the Association of Physicians of India
|July 15, 2011
Summary
Sturge Weber Syndrome (SWS) is a rare neurocutaneous disorder causing vascular malformations. This case highlights SWS presentation in a young girl with seizures and developmental delay.
Area of Science:
- Neurology
- Genetics
- Dermatology
Background:
- Sturge Weber Syndrome (SWS), or encephalotrigeminal angiomatosis, is a rare neurocutaneous disorder.
- It is characterized by vascular malformations involving the face, eyes, and brain.
Observation:
- A case report of a young, unmarried female diagnosed with SWS is presented.
- The patient exhibited a port-wine stain since birth and a history of seizures starting at age four.
Findings:
- The patient presented with status epilepticus, significant mental retardation (IQ 30-35), EEG abnormalities, and characteristic neuroimaging findings.
- These clinical and diagnostic features confirmed the diagnosis of Sturge Weber Syndrome.
Implications:
- This case underscores the importance of recognizing SWS in pediatric and neurological practice.
- Early diagnosis and management are crucial for addressing the neurological and ophthalmological manifestations of SWS.
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