Sturge-Weber syndrome coexisting with polydactyly: a case re
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A 15-year-old girl was admitted with a chief complaint of progressive visual loss in both eyes for 3 years. No ocular redness, pain, photophobia, or tearing was noticed. She denied the experience of seizures, migraines, or behavioral disorders. She was the full-term product of a normal pregnancy and delivery, remarkable only for her extensive port-wine birthmarks and the extra finger on the left hand. Her growth and development were normal. Her parents, sister, and two brothers were healthy without the related signs.

General physical examinations revealed an otherwise healthy female with nevus flammeus affecting the bilateral forehead and extending to the left cheek, jaw, neck, and forearm. Moreover, the lips and the palatine mucosa were also involved. A superfluous digit was found attaching on the radial side of the left thumb, and distal digits of the biphalangeal thumb deviated radially. Ophthalmic examinations showed a Snellen visual acuity of 20/2000 in the right eye (OD) and 20/125 in the left eye (OS). The best-corrected visual acuity of the right eye had improved to 20/200 and OS to 20/100. Intraocular pressure (IOP) was 58 and 42 mmHg for the right eye and the left eye, respectively. Slit-lamp examination revealed torturous and dilated conjunctival and episcleral vessels, Haab’s striae, enlarged corneal diameter (13.5 mm) bilaterally, and a relative afferent pupillary defect in the right eye. Bilateral torturous retinal vessels and a vertical cup to disc ratio of 1.0 were found.

Gonioscopy showed an open angle with blood in Schlemm’s canal bilaterally. The subfoveal choroidal thickness of the right eye was 627 m and the left eye was 683 m as measured by optical coherence tomography. The axial length of the right eye was 23.95 mm and the left eye was 23.40 mm, and the central corneal thickness of the right eye was 597 m and the left eye was 598 m. Notwithstanding the negative result of the neurological examination, the ophthalmologist made a diagnosis of Sturge-Weber syndrome based on the cutaneous finding and ocular involvement.

After a three-week outpatient drug treatment with maximum Intraocular pressure-lowering medications (a fixed combination of latanoprost 0.005% and timolol 0.5% once a day, brinzolamide 1% twice a day, and brimonidine 0.2% twice a day in both eyes), trabeculectomy with intraoperative application of mitomycin C was performed in both eyes due to the uncontrolled Intraocular pressure (right eye: 39mmHg and the left eye: 23 mmHg). No adverse event was found postoperatively, except for the tendency of subconjunctival fibrosis of the bleb and elevated Intraocular pressure (24-40 mmHg) in both eyes. Subconjunctival injections of 5-fluorouracil 5 mg were given weekly within the early postoperative follow-up (in total, 4 injections in the right eye and 5 injections in the left eye). Over the next 3-month follow-up period, the Intraocular pressure was controlled ranging from 12 to 16 mmHg bilaterally, and no Intraocular pressure-lowering drugs were needed.

Source:https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12886-020-01761-x
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