Choroidal hemangioma in Sturge Weber syndrome: Case series with confirmed tissue diagnosis

Hala A Helmi; Hind M Alkatan; Rakan S Al-Essa; Talal W Aljudi; Azza M Y Maktabi; Charles G Eberhart

doi:10.1016/j.ijscr.2021.106626

Choroidal hemangioma in Sturge Weber syndrome: Case series with confirmed tissue diagnosis

Int J Surg Case Rep. 2021 Dec:89:106626. doi: 10.1016/j.ijscr.2021.106626. Epub 2021 Nov 25.

Authors

Hala A Helmi¹, Hind M Alkatan², Rakan S Al-Essa¹, Talal W Aljudi³, Azza M Y Maktabi⁴, Charles G Eberhart⁵

Affiliations

¹ Ophthalmology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
² Ophthalmology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Pathology and Laboratory Medicine Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia. Electronic address: hkatan@ksu.edu.sa.
³ College of Medicine, King Saud University, Riyadh, Saudi Arabia.
⁴ Pathology and Laboratory Medicine Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
⁵ Department of Pathology, Johns Hopkins University, School of Medicine, Baltimore, MD, USA; Department of Ophthalmology, Johns Hopkins University, School of Medicine, Baltimore, MD, USA; Department of Oncology, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.

Abstract

Introduction: Sturge-weber syndrome (SWS) is a rare condition that presents with a typical facial port-wine stain, neurological manifestations such as seizures, and ocular involvement by glaucoma and/or choroidal hemangioma. In this series we demonstrate the histopathological details of the primary ocular involvement as well as the late blinding secondary ocular changes.

Presentation of cases: Seven cases were included with the diagnosis of choroidal hemangioma in association with SWS (6 enucleations and one evisceration). Male to female ratio was 4:3. Age at enucleation/evisceration ranged from 25 to 68 years with a median of 42 years. Five cases had history of glaucoma (71.4%). Diffuse hemangioma was found in all (4 cavernous and 3 mixed cavernous/capillary type). Conjunctival and episcleral hemangiomas were found in 3/7. Iris neovascularization and retinal detachment were confirmed in 5/7 cases each (71%).

Discussion: Our demographic and histopathological findings parallel what was previously concluded in the literature about the lack of gender predilection in SWS, and the most common ocular presentations of glaucoma and choroidal hemangioma, which is mostly diffuse in nature. The hemangioma type was found to be mostly cavernous followed by mixed capillary and cavernous. We demonstrated late associated ocular changes such as cataract, iris neovascularization, exudative retinal detachment, retinal pigment epithelium hyperplasia/metaplasia, and optic nerve atrophy, all of which aid in the poor visual outcome in these patients.

Conclusion: Sturge-weber syndrome is a rare but visually disabling disease due to the associated ocular manifestations of glaucoma and choroidal hemangioma. Multidisciplinary approach because of the diverse presentation of this condition by pediatrician, neurologist, and ophthalmologist is essential with an attempt to preserve vision.

Keywords: Case series; Cavernous; Choroidal hemangioma; Port-wine stain; Sturge-weber syndrome.