Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: A case report highlighting the role of multimodal imaging and a brief review of the literature

Abstract

Purpose To present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations. Methods A 37-year-old woman with diagnosis of SWS presented to our unit. The patient had been treated with pulsed dye laser for bilateral nevus flammeus and had right leptomeningeal angiomatosis. She had glaucoma, but ultrasound biomicroscopy did not show anterior chamber or ciliary body alterations. Results Enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) showed bilateral diffuse choroidal hemangiomas in both eyes with choroidal thickness above 1000 μm. B-scan ultrasound examination showed diffuse choroidal hemangioma in both eyes, with a choroidal thickness of 1.53 mm and 1.94 mm in the right and left eye (RE, LE), respectively. Peripapillary retinal nerve fiber evaluation showed thinning of the retinal nerve fiber layer in both eyes. Conclusions This report highlights multimodal imaging techniques for the critical assessment of patients with SWS, especially in rare cases with bilateral choroidal hemangioma of the choroid. Novel imaging modalities enable optimal management and follow-up of rare conditions, and our case adds further evidence to the existing literature.

Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome

“…Althaus et al [ 73 ] documented a contralateral circumscribed choroidal hemangioma; the patient had a left-sided naevus flammeus and a right-sided circumscribed choroidal hemangioma. Complications of DCH are macular edema, exudative retinal detachment, pigmentary changes within the RPE, subretinal fibrosis, and orange pigment changes secondary to diffuse choroidal hemangioma [ 10 ]. DCH can also be associated with increased choroidal thickness in the fellow eye with no visible hamangioma [ 76 , 77 ].…”

“…DCH can also be associated with increased choroidal thickness in the fellow eye with no visible hamangioma [ 76 , 77 ]. Spectral domain optical coherence tomography (SD-OCT) has shown that choroidal thickness of the affected eyes, ipsilateral to facial naevus flammeus, is twice that of the fellow eyes [ 10 ]. Chavala et al reported a patient with a bilateral facial nevus flammeus who developed exudative retinal detachments in both eyes without mentioning the diffuse choroidal hemaniogma [ 80 ].…”

“…Two of the reported cases were bilateral [ 63 ]. Venous congestion of the left upper venous branch was observed in the left eye of a case with bilateral DCH [ 10 ].…”

Sturge-Weber syndrome coexisting with polydactyly: a case report

“…How these cells would be affected by the mutation is yet to be known. Other postulations include the persistence of primordial sinusoidal vascular channels and the altered innervation of perivascular vessels due to the neural crest cell abnormalities [ 12 ].…”

Síndrome de Sturge-Weber: revisión de la literatura

“…Los pacientes con SSW pueden desarrollar angiomatosis del plexo coroideo y glaucoma durante la evolución de la enfermedad, estas lesiones tienden a ser casi siempre ipsilaterales a la mácula en vino de Oporto y el riesgo es mayor cuando esta alteración afecta a ambos párpados; en estos casos el riesgo del glaucoma puede alcanzar hasta el 50% de los pacientes, estos desarrollan glaucoma sobre todo en la infancia debido a anomalías de la cámara anterior y en la edad adulta temprana debido a una elevación epiescleral de la presión venosa, posiblemente debido a la presencia de hemangioma epiescleral y derivaciones arteriovenosas 4,16 .…”