Publication:

Successful rescue of a child with Griscelli syndrome type 2 from lethal respiratory distress

In this study, we report a known case of GS type 2, in a four-year-old male child. The child initially presented with fever, tachypnea, severe anemia, massive hepatosplenomegaly, wheezing on auscultation. A chest x- ray revealed bilateral perihilar infiltrates. The child was managed with high flow, heated and humidified oxygen support at 20 liters/min, inhaled corticosteroids, salbutamol nebulization and antibiotics. A respiratory viral panel PCR sent to rule out viral pathogens. There was gradual improvement, and the child was tapered off oxygen within one week. The hepatosplenomegaly gradually regressed after receiving the HLH protocol. At the time of discharge, the child was maintaining saturation on room air without any distress, had no hepatomegaly and spleen had regressed to 5 cm under right costal margin. Work up for Bone marrow transplantation (BMT), was simultaneously started. GS2 can have heterogenous clinical manifestations. Early diagnosis and rapid control of HLH by using the HLH-1994 regimen along with supportive care for the complications is the key to successful treatment.