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Congenital Hemophagocytic Lymphohistiocytosis Presenting as Thrombocytopenia in a Newborn

Hinson, Ashley MD; Owen, William MD; Prose, Neil MD; Parikh, Suhag MD; Thornburg, Courtney MD

Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0000000000000234
Clinical and Laboratory Observations
Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a disease caused by dysregulation and hyperactivation of the immune system, and can be familial or acquired. HLH presenting in infancy can be rapidly fatal if not promptly recognized and treated. Congenital HLH can be caused by various genetic mutations or part of immunodeficiency syndromes. We present an infant with Griscelli syndrome and familial HLH with atypical genetic mutations, presenting as thrombocytopenia on the first day of life, cured with chemotherapy and unrelated cord blood transplant.

Author Information

*Departments of Pediatrics, Duke University Medical Center, Durham, NC

Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA

Department of Pediatrics, Rady Children’s Hospital, San Diego, CA

A.H. contributed to design of the manuscript, acquisition of data, analysis, interpretation, drafting and revising of the article, and final approval of the draft to be published. W.O., N.P., and S.P. contributed to analysis, interpretation, revising, and final approval of the draft to be published. C.T. contributed to design of the manuscript, acquisition of data, analysis, interpretation, drafting and revising of the article, and final approval of the draft to be published.

The authors declare no conflict of interest.

Reprints: Courtney Thornburg, MD, Department of Pediatrics, Rady Children’s Hospital, 3020 Children’s Way, MC 5035, San Diego, CA 92123 (e-mail: cthornburg@rchsd.org).

Received March 21, 2014

Accepted July 1, 2014

Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.