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Pseudotumor cerebri in children with Down syndrome
Neda Esmaili1, Yasmin S Bradfield
1School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin 53705, USA.
Ophthalmology
|March 21, 2007
Summary
In pediatric Down syndrome patients, optic nerve elevation is rare, occurring in 3.4%. Pseudotumor cerebri should be considered in these cases, with treatment showing variable outcomes for vision and optic nerve appearance.
Area of Science:
- Ophthalmology
- Pediatrics
- Neurology
Background:
- Down syndrome is associated with various ocular abnormalities.
- Optic nerve elevation can indicate increased intracranial pressure, a condition that requires prompt diagnosis and management.
Observation:
- A retrospective review of 117 pediatric Down syndrome patients identified four cases (3.4%) with optic nerve elevation.
- These patients, aged 2-10 years, were asymptomatic for headache or visual obscurations.
Findings:
- Three patients were diagnosed with pseudotumor cerebri (PTC) based on MRI, lumbar puncture, and CSF analysis.
- One patient likely had PTC, while another experienced spontaneous resolution of optic nerve elevation.
- Treatment with acetazolamide and weight loss showed mixed results, with some improvement and some cases of optic atrophy.
Implications:
- Optic nerve elevation in pediatric Down syndrome patients warrants consideration for pseudotumor cerebri.
- Early diagnosis and management of PTC are crucial, though treatment outcomes can vary.
- Further research is needed to understand the specific relationship between Down syndrome and PTC.
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