Hongxi Wang1, Nana Dong1, Li Tan1, Chukai Huang2. 1. Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, North Dongxia Road, Shantou, 515041, Guangdong, China. 2. Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, North Dongxia Road, Shantou, 515041, Guangdong, China. hck@jsiec.org.
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.
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.
Entities:
Keywords:
Case report; Comorbidity; Polydactyly; Port-wine stains; Sturge-Weber syndrome
Authors: Aimee F Luat; Csaba Juhász; Jeffrey A Loeb; Harry T Chugani; Stephen J Falchek; Badal Jain; Carol Greene-Roethke; Catherine Amlie-Lefond; Karen L Ball; Amy Davis; Anna Pinto Journal: Pediatr Neurol Date: 2019-06-06 Impact factor: 3.372