Familial haemophagocytic lymphohistiocytosis

Familial haemophagocytic lymphohistiocytosis [FHL] is a rare genetic disease, typically occurs during infancy and early childhood and is fatal in 1-2 months from presentation if not diagnosed and appropriately treated. The dramatic clinical presentation with multisystem involvement is described in our typical case. Early diagnosis and treatment offers this child a good chance of prolonged remission and possibly cure. As this condition is frequently not diagnosed, with dire consequences except we describe our case to increase awareness and improve the outcome for others