Purpose: To report 4 pediatric Down syndrome patients with optic nerve elevation and pseudotumor cerebri.
Design: Retrospective observational case series.
Participants: Four pediatric Down syndrome patients found to have optic nerve elevation on ophthalmologic examination at a single institution.
Methods: Medical record review of 117 pediatric Down syndrome patients aged 0 to 18 years was performed. All patients were seen at the University of Wisconsin pediatric ophthalmology clinic between 1995 and 2005.
Main outcome measures: Visual acuity, optic nerve appearance, and neurologic work-up.
Results: Four (3.4%) of 117 Down syndrome patients seen at the university's pediatric ophthalmology clinic were found to have optic nerve elevation. This included 2 boys and 2 girls, aged 2 to 10 years. None of the patients had a history of headache or transient visual obscuration. One of the patients had high hyperopia at the time of presentation, and all were referred for neurologic evaluation of suspected increased intracranial pressure. Three patients were diagnosed with pseudotumor cerebri (PTC) based on a normal brain magnetic resonance imaging (MRI) scan, an elevated opening cerebrospinal fluid (CSF) pressure on lumbar puncture, and normal CSF analysis results. The fourth patient's elevated optic nerve appearance was likely secondary to PTC after obtaining normal brain MRI results; however, this patient did not undergo a lumbar puncture. One child with PTC demonstrated improvement in visual acuity and optic nerve appearance after acetazolamide and weight loss therapy. The 2 additional patients with PTC were treated with either low-dose acetazolamide or weight loss therapy and experienced optic atrophy. The final patient, who did not undergo lumbar puncture, experienced spontaneous resolution of optic nerve elevation. Mean follow-up duration was 49 months.
Conclusions: Only 3.4% (4/117) of Down syndrome children were found to have optic nerve elevation in a single institution. Pseudotumor cerebri should be considered in asymptomatic Down syndrome patients with elevated optic nerves. Medical therapy in PTC with acetazolamide can lead to improvement in visual acuity and optic nerve appearance, although optic atrophy also was seen.