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Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis

Sisters With the Same Mutation but Different Presentations

Russ, Abigail DO*; Mack, Joana MD; Green-Murphy, Audrey DO; Occidental, Michael BS§; Mian, Amir MD, MS, MBA

Journal of Pediatric Hematology/Oncology: August 2019 - Volume 41 - Issue 6 - p 473–477
doi: 10.1097/MPH.0000000000001522
Original Articles
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Griscelli syndrome type 2 (GS2) is an autosomal recessive condition associated with the development of hemophagocytic lymphohistiocytosis. GS2 is caused by a gene mutation involving RAB27A, which affects a melanosome anchoring complex in melanocytes and releases cytolytic granules from T cells and natural killer cells. GS2 is known to have immunologic compromise and oculocutaneous albinism. We present the case of 2 sisters who had vastly different phenotypic presentations despite having the same genetic frameshift mutation in the RAB27A gene. Patient 1 presented with seizures and neurological compromise, whereas patient 2 presented with pancytopenia and diarrhea. Both patients developed hemophagocytic lymphohistiocytosis.

*Department of Pediatrics

Department of Pediatrics, Division of Pediatric Hematology-Oncology

§University of Arkansas for Medical Sciences, School of Medicine

Division of Pediatric Hematology-Oncology, University of Arkansas for Medical Sciences, Arkansas Children’s Hospital, Little Rock, AR

Department of Pediatrics, Division of Pediatric Neuro-Oncology, Children’s Hospital of Philadelphia, Philadelphia, PA

The authors declare no conflict of interest.

Reprints: Abigail Russ, DO, Arkansas Children’s Hospital, 1 Children’s Way, Slot 512-19A, Little Rock, AR 72202 (e-mail: aeruss@uams.edu).

Received August 5, 2018

Accepted April 15, 2019

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