Case Report: Sturge-Weber syndrome with contralateral morning glory syndrome

TL;DR

A 9-year-old girl was diagnosed with two rare eye conditions, Sturge-Weber syndrome and morning glory syndrome, coexisting in the same patient for the first time.

Contribution

This is the first reported case of Sturge-Weber syndrome and morning glory syndrome occurring together in a single patient.

Findings

The patient had Sturge-Weber syndrome in the right eye and morning glory syndrome in the left eye.

The combination of these two conditions challenges existing understanding of their clinical and pathological relationships.

The case highlights the need for thorough eye and neurological evaluations in patients with unilateral optic disc anomalies or port-wine birthmarks.

Abstract

Sturge-Weber syndrome (SWS) and morning glory syndrome (MGS) are rare congenital disorders that present significant diagnostic challenges. This case describes a girl whose ocular examination revealed distinct manifestations of these two rare but etiologically separate congenital anomalies, a combination that has never been reported before.

A 9-year-old girl came to our ophthalmology department complaining of blurred vision in her left eye that had lasted for more than 6 months. On examination, a port-wine birthmark was confirmed on the right facial side. The visual acuity was normal in the right eye (20/20) but severely reduced in the left, improving only from counting fingers to 20/1000 with correction. Funduscopy revealed diffuse choroidal hemangiomas in the right eye and an enlarged optic disc with a central funnel-shaped excavation and radiating vascular anomalies accompanied by retinal detachment in the left eye. The patient was ultimately diagnosed with SWS affecting the right eye and MGS with retinal detachment in the left eye.

This case is noteworthy as it documents the first instance of SWS and MGS coexisting in one patient, supported by imaging findings, thereby challenging established paradigms regarding their individual clinical manifestations and underlying pathogenesis. For patients with port-wine birthmark or unilateral optic disc anomalies, thorough assessment of the contralateral eye and comprehensive neurological evaluation are essential to detect associated conditions that may threaten vision and cause neurological damage.

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