Sotos syndrome, corneal and scleral involvement: case report

Abstract

The objective is to describe the ophthalmologic alterations, especially of the ocular surface, that led to the clinical suspicion and subsequent diagnosis and interdisciplinary therapeutic management of a patient with Sotos syndrome.

A 25-year-old woman consulted for photophobia, burning and pain of several months of evolution. Biomicroscopy showed peripheral corneal infiltrates and bilateral limbal inflammation. Anamnesis was performed to evaluate general alterations related to dry eye in a young woman. The absence of menstruation, cardiac and mandibular alterations and renal agenesis were highlighted, in addition to remarkable physical signs. Initial consultations were made with specialists in rheumatology and endocrinology, later confirming the diagnosis of Sotos syndrome. Topical treatment with lubricants and immunomodulators was performed, together with medical evaluation of other specialties, achieving therapeutic control of the condition.

Sotos syndrome is a genetic pathology of very low prevalence, which can present with ophthalmologic signs. In this case, the potential association to peripheral keratitis with limbar reaction has been described. The relevance of anamnesis and interdisciplinary work to establish the diagnosis and subsequent therapeutic management is emphasized.