A Child With Pancytopenia and Optic Disc Swelling

Justin Berk; Deborah Hall; Inna Stroh; Caren Armstrong; Kapil Mishra; Lydia H Pecker; Bonnie W Lau

doi:10.1542/peds.2018-2887

A Child With Pancytopenia and Optic Disc Swelling

Pediatrics. 2019 Nov;144(5):e20182887. doi: 10.1542/peds.2018-2887. Epub 2019 Oct 8.

Authors

Justin Berk^{1

2}, Deborah Hall², Inna Stroh³, Caren Armstrong⁴, Kapil Mishra³, Lydia H Pecker⁵, Bonnie W Lau⁶

Affiliations

¹ Division of Intermal Medicine and Pediatrics.
² Department of Pediatrics; and.
³ Divisions of Ophthalmology.
⁴ Pediatric Neurology, and.
⁵ Pediatric Hematology, School of Medicine, Johns Hopkins University, Baltimore, Maryland.
⁶ Pediatric Hematology, School of Medicine, Johns Hopkins University, Baltimore, Maryland blau7@jhmi.edu.

PMID: 31594907
DOI: 10.1542/peds.2018-2887

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.

Publication types

Case Reports

MeSH terms

Adolescent
Diagnosis, Differential
Fatigue / etiology
Hematopoietic Stem Cell Transplantation
Humans
Male
Mutation, Missense*
Optic Disk / pathology
Pancytopenia / complications
Pancytopenia / diagnosis*
Pancytopenia / genetics
Pancytopenia / therapy
Papilledema / etiology*
Receptors, Thrombopoietin / genetics*
Retina / pathology
Vision Disorders / etiology

Substances

Receptors, Thrombopoietin
MPL protein, human