A Child With Pancytopenia and Optic Disc Swelling.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31594907.
- Also identified by DOI 10.1542/peds.2018-2887.
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Abstract
A previously healthy 16-year-old adolescent boy presented with pallor, blurry vision, fatigue, and dyspnea on exertion. Physical examination demonstrated hypertension and bilateral optic nerve swelling. Laboratory testing revealed pancytopenia. Pediatric hematology, ophthalmology and neurology were consulted and a life-threatening diagnosis was made.
Medical subject headings
- Mutation, Missense
- Pancytopenia
- Papilledema
- Receptors, Thrombopoietin