LAUSR

A 9-month-old male infant, first child of a third-degree consanguineous marriage, was admitted to our center with history of recurrent high-grade fever since 5 months of age for which he had been admitted and treated with iv antibiotics thrice. On examination, the child had severe failure to thrive with weight and height both < 3 z-score for age and oculo-cutaneous albinism with hypopigmented hair. Ocular examination revealed nystagmus and retinal hypopigmentation. The infant also had pallor with mild pedal edema along with hepatosplenomegaly and a large perianal abscess. He was diagnosed as a case of Chediak Higashi syndrome (CHS) due to presence of classical clinical features and observation of giant granules in neutrophils, lymphocytes, monocytes, and platelets. The diagnosis was further confirmed by identification of homozygous frame shift mutation of the LYST gene (c.5731_5734delinsTAT) on molecular testing by next-generation sequencing. Initial investigations (summarized in Table 1) at admission to our center revealed severe anemia and thrombocytopenia with transamnitis, elevated serum ferritin, triglycerides, and LDH with normal kidney functions. Bone marrow aspirate was suggestive of hemophagocytosis. The child was managed with intravenous vancomycin and meropenem along with incision and drainage of the abscess. The infant however continued to have high-grade fever, and on further evaluation, both blood and urine culture revealed Candida tropicalis sensitive to caspofungin and amphotericin. The child was given 4 weeks of iv caspofungin on which he improved symptomatically with no growth on repeat blood and urine culture. The patient was discharged on oral fluconazole and cotrimoxazole-trimethoprim prophylaxis. The parents were counseled about the nature of the disease and need for bone marrow transplant. The child remained asymptomatic on follow-up except for low-to-moderate grade fever recorded once or twice a week. Two weeks after discharge, however, investigations done on an outpatient basis revealed