Sturge-Weber Syndrome

Topic outline

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    Abstract

    A child was born with an extensive, bilateral, flat, red facial skin lesion that was initially flat and barely noticeable but over time has grown and become thicker and a deeper red color. He was born at term to a healthy mother, had no other lesions on his body, no other symptoms, and a normal developmental history. He was diagnosed with a high-risk port wine stain and was therefore referred to neurology and ophthalmology. MRI of the brain and orbits and MRA of the brain revealed no intracranial findings consistent with Sturge-Weber Syndrome. On eye examination, vision was 20/20 in both eyes, but IOP was elevated OS compared to OD. Exam revealed dilated and tortuous episcleral vessels, blood in Schlemm's canal, asymmetric cupping OS>OD, a diffusely red fundus OU, and tortuous and abnormal retinal vasculature with peripheral non-perfusion OU. Glaucoma workup revealed possible mild pre-perimetric glaucomatous optic nerve damage OS and fluorescein angiography revealed diffuse retinal venous-venous anastomoses with peripheral bulb-like aneurysms with late leakage and peripheral non-perfusion. The patient was diagnosed with type 2 Sturge-Weber syndrome, underwent laser photocoagulation of the peripheral non-perfused retinas, and was started on topical dorzolamide/timolol drops in the left eye only twice a day. He continues to follow closely with a multidisciplinary team.
    

    
    

    Presentation Date: 07/22/2021

    Issue Date: 09/24/2021
    

    
    
  • Presenter: Humberto Salazar, III, MD URL
  • Faculty Discussant: Elena Bitrian, MD URL
  •     Faculty Discussant: J. William Harbour, MD