Abstract

Objective: This case report was written with the intention of educating pediatric caregivers regarding the early detection and management of Griscelli Syndrome type 2 (GS2), thereby preventing fatal consequences, and to draw light on the necessity for premarital genetic counselling and education in public. Case Report: A two months and 7 days old male baby presented with tachycardia, fever, abdominal distension, cough, loose stools, and vomiting. Head to toe examination showed hypo-pigmented hair with silvery grey eyebrows and eyelashes. Bone marrow aspiration showed increased histiocytes exhibiting haemophagocytosis. Suspecting Griscelli Syndrome, genetic test was done which indicated RAB27A gene mutations, thereby confirming the GS2 diagnosis. The child was treated with 2 litres of oxygen with nasal prong, meropenem, fluconazole, dexamethasone and packed red blood cell transfusion. In view of worsening sepsis baby was given with vancomycin, tigecycline and cyclosporine and later intubated. Conclusion: Consanguineous marriages are common in India and are one of the major reason for autosomal recessive disorders like GS2 in newborns. This highlights the need of both premarital genetic counseling and education among public. Keywords: Hypopigmented hair, haemophagocytosis, abdominal distension, RAB27A mutation

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