Pseudotumor Cerebri in Children with Down Syndrome
Received 22 April 2006; received in revised form 12 December 2006; accepted 12 December 2006. published online 16 March 2007.
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.
Available online: March 16, 2007.
1School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin.
2Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin.
Correspondence to Yasmin S. Bradfield, MD, Department of Ophthalmology and Visual Sciences, University of Wisconsin, 2870 University Avenue, Suite 206, Madison, WI 53705.
ABSTRACT