Sturge-Weber syndrome coexisting with polydactyly: a case report.
BMC Ophthalmol
; 21(1): 6, 2021 Jan 06.
Article
en En
| MEDLINE
| ID: mdl-33407220
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Síndrome de Sturge-Weber
/
Glaucoma
/
Neoplasias de la Coroides
/
Polidactilia
/
Hemangioma
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
BMC Ophthalmol
Asunto de la revista:
OFTALMOLOGIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
China