Sturge-Weber syndrome coexisting with polydactyly: a case report

Area of Science:

• Medical Genetics
• Neurology
• Ophthalmology

Background:

• Sturge-Weber syndrome (SWS) is a rare congenital disorder.
• It is characterized by facial port-wine stains, glaucoma, and brain abnormalities.
• Comorbidities are known, but SWS with polydactyly is undocumented.

Observation:

• A 15-year-old female patient presented with SWS.
• She exhibited bilateral glaucoma and extensive port-wine stains.
• The patient also had polydactyly of the left thumb.

Findings:

• The case presents a unique concurrence of bilateral SWS and unilateral polydactyly.
• Surgical intervention (trabeculectomy with mitomycin C and 5-fluorouracil) successfully managed intraocular pressure.
• This represents the first reported case of SWS and polydactyly in the same individual.

Implications:

• This case expands the known clinical spectrum of Sturge-Weber syndrome.
• The etiology of the SWS-polydactyly association remains unclear.
• Further research is warranted to understand the pathogenesis of this rare comorbidity.