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: email@example.com).
Received August 5, 2018
Accepted April 15, 2019