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