Sturge-Weber syndrome coexisting with polydactyly: a case report.

Abstract:

BACKGROUND:Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma and leptomeningeal hemangiomas. SWS can comorbid with other disorders in some patients, however, there has been no prior described case of SWS and polydactyly occurring in the same patient. CASE PRESENTATION:A 15-year-old girl with diagnosis of SWS presented to our hospital. She had bilateral glaucoma and extensive port-wine stains distributing in bilateral faces, left neck and left upper limb. Meanwhile, the patient was noted to demonstrate the superfluous digit attaching on the left thumb and was diagnosed as polydactyly. Trabeculectomy, with intraoperative application of mitomycin C and postoperative subconjunctival injections of 5-fluorouracil, was successful in controlling the intraocular pressure in both eyes. CONCLUSIONS:We report a case with bilateral SWS coexisting with unilateral polydactyly, which, to our knowledge, has not been recognized previously and adds further evidence to the existing literature. In view of the rare concurrence of SWS and polydactyly, the etiology is unclear and further investigation is required to explore the underlying pathogenesis.

journal_name

BMC Ophthalmol

journal_title

BMC ophthalmology

authors

Wang H,Dong N,Tan L,Huang C

doi

10.1186/s12886-020-01761-x

subject

Has Abstract

pub_date

2021-01-06 00:00:00

pages

6

issue

1

issn

1471-2415

pii

10.1186/s12886-020-01761-x

journal_volume

21

pub_type

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