Hemophagocytic lymphohistiocytosis (HLH) secondary to an infection is a great impersonator. It is caused by hyperimmune activation, which leads to a wide array of hematological abnormalities. If the disease is untreated, it is usually fatal. We report the case of a four-year-old girl who presented to our tertiary care hospital with high-grade fever, frequent loose stools, and bleeding from the lips and gums. Investigations showed pancytopenia, hyperferritinemia, hypofibrinogenemia, and hypertriglyceridemia whereas the bone marrow biopsy revealed hemophagocytosis with trilineage suppression. Blood cultures grew Salmonella typhi. After ruling out other possibilities, the diagnosis of HLH was made as per the HLH-2004 diagnostic criteria. The patient responded well to culture-sensitive antibiotics and supportive treatment. We discuss the diagnosis and clinical course of this unique case and strive to create awareness about secondary HLH induced by common diseases, such as typhoid fever.

Langerhans cell histiocytosis (LCH) is a rare, clonal disease of the monocyte-macrophage system, varying in its clinical presentation from mere self-healing skin and bone lesions to life-threatening multi-system disease. In descending order of frequency, the disease is known to involve the skeleton, skin, lymph nodes and lesser often, the liver, spleen, lungs, hematopoietic and central nervous systems. Here, we present a pediatric case of multi-system LCH in a five-year-old child, unique in its evident cardiac and renal involvement alongside other organ systems and important in how the diagnosis was aided by a fine needle aspiration cytology instead of the costlier histopathological procedures, in a setting with limited resources.

Hereditary tyrosinemia type 1 (HT-1) is a rare autosomal recessive disorder caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (FAH), which catalyzes the final step in the tyrosine degradation pathway. Hereditary tyrosinemia is a heterogeneous disease with a wide spectrum of clinical manifestations involving hepatic, renal, or nervous systems. It has grave consequences if left untreated. Some of the late complications of hereditary tyrosinemia include cirrhosis, liver nodules, hepatocellular carcinoma, hypophosphatemic rickets, nephrocalcinosis, glomerulosclerosis, and chronic renal failure. Rarely, infants with hereditary tyrosinemia may present with persistent hypoglycemia, which may be a result of acute liver failure or hyperinsulinism. Hyperinsulinemic hypoglycemia (HH), caused by dysregulation of insulin secretion from pancreatic β-cells, leads to insulin driven glucose entry into the tissues and inhibits glycolysis, gluconeogenesis, fatty acid release, and ketone body synthesis. Hyperinsulinemic hypoglycemia can cause severe, persistent hypoketotic hypoglycemia. Diagnosing tyrosinemia type 1 can be a challenge as it is a heterogeneous disorder with a wide variety of clinical manifestations and complications. We herein report a rare case of a three-day-old male neonate with HT-1 compounded with HH.