Snigdha Singh, Aathira Ravindranath, Rajkumar P Wadhwa, Benaganahalli S Sandeep, Kalavathi L Narendra
Keywords :
Case report, Liver failure, Liver transplantation, Niemann–Pick type C, Neonate, Storage disorder
Citation Information :
Singh S, Ravindranath A, Wadhwa RP, Sandeep BS, Narendra KL. A Rare Cause of Neonatal Liver Failure. Ann Pediatr Gastroenterol Hepatol 2024; 6 (1):1-2.
A 1-month-old infant presented with complaints of jaundice and poor oral intake for 14 days. Liver function tests were significantly deranged, and the prothrombin time-international normalized ratio (PT-INR) was high. Ultrasonography showed hepatomegaly with periportal cuffing and massive splenomegaly suggestive of an infiltrative disorder. Bone marrow aspiration and biopsy showed lipid-laden macrophages, which helped in making a diagnosis of Niemann–Pick disease. Whole exome sequencing results further confirmed the diagnosis of Niemann–Pick disease type C (NPC). NPC is a rare cause of neonatal liver failure, and since there is no known treatment for the illness, investigations must be specifically tailored to produce a diagnosis in time, which can aid in the management and prenatal counseling.
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