Griscelli Syndrome presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis

A 12-month-old female infant was referred to our hospital with prolonged fever and status epilepticus. Her weight and height were below the 5th percentile for age. Physical examination revealed marked hypotonia, fever, pallor, partial albinism with silvery gray hair, and hepatosplenomegaly (Figure 1A). Laboratory investigations showed anemia, thrombocytopenia, hypofibrinogenemia, hyperferritinemia, and hemophagocytosis at bone marrow examination (Figure 1B). Lymphocyte subsets and serum immunoglobulin levels were normal. Hair examination showed irregularly scanty melanin pigments (Figure 1C). Electroencephalographic study revealed encephalopathic findings, including decreased background activity with continuous slow wave discharges. Brain magnetic resonance imaging showed diffuse cerebral involvement (Figure 2). RAB27A encoding gene C.149delG mutation was detected. We diagnosed Griscelli syndrome (GS) with hemophagocytic lymphohistiocytosis (HLH). She received the HLH-2004 treatment protocol. The patient showed complete hematological response to treatment and was discharged after 1 month with persistent neurological involvement. Although bone marrow transplantation is the only curative therapy for GS, we did not plan bone marrow transplantation due to the severe neurological sequela. The patient died due to progressive disease after 6 months.