Singh V et al. AMJ 2023 Open Access Anuradhapura Medical Journal 2023| Volume 17 | Issue 3 | Page |54-57 Case Report Neonatal presentation of Niemann-Pick disease type C2- A rare case report. Vinaya Singh*, Kailas Randad, Pushpa Yadav, Tejasi Sawant, Qudsiya Ansari Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, India. Keywords: Hepatomegaly, Cholestasis, Storage disorder, Neonate Copyright: ©2023 Singh V et al. This is an open-access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Funding: None Competing interest: None Received: 25.04.2023 Accepted revised version: 23.08.2023 Published:31.12.2023 *Correspondence: lvinaya36@gmail.com https://orcid.org/0000-0002-6325-2411 Introduction Niemann-Pick disease (NPD) is a heterogeneous group of lipid storage disorders, with a common presentation of hepato-splenomegaly with or without neurological involvement [1,2]. It consists of two types namely, acid sphingomyelinase (ASM) deficiencies, including types A, B and intermediate forms, and lipid trafficking defect, corresponding to Niemann-Pick type C (NP-C) [3]. NP- C is a rare autosomal recessive neurovisceral lipid storage disorder, with an incidence of 1 in 120,000 live births which is characterized by the accumulation of unesterified cholesterol in the lysosomal/late endosomal system presenting as progressive, disabling neurological symptoms and premature death in most patients [4, 5]. Presentation of cases in the perinatal period and infancy are predominantly visceral, while from late infancy onward it is neurological . [1]. Molecular genetic study is preferred for diagnosis. Herein, we describe a neonate with NPC-2 presented with cholestatic jaundice, anaemia, progressive hepatosplenomegaly and history of sibling death due to cholestasis. Case Report: 28 days old full term, 2.6 kg, female baby with uneventful antenatal and birth history presented with jaundice since 10 days and an episode of convulsion 2 days before. The baby also had a refusal to feed, and decreased activity. History of death of elder male sibling at 2.5 months due to cholestasis was present. The baby has been admitted to another hospital Cite this article as: Singh V et al, Neonatal presentation of Niemann-Pick disease type C2; a rare case report. Anuradhapura Medical Journal 2023; 17 (3): 54-57, DOI: http://doi.org/10.4038/amj.v17i3.7770 Abstract Niemann Pick type C [NP-C] disease is a rare neurodegenerative lysosomal storage disorder marked by an accumulation of unesterified cholesterol in the lysosomal system. It has autosomal recessive inheritance caused by mutations in NPC1 and NPC2 genes. The broad clinical spectrum ranges from a prenatal severe manifestation to an adult-onset chronic neurodegenerative disease. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and pulmonary infiltrates (in some instances). Patients with NP-C usually do not show neurological manifestations during the neonatal period. Herein we present a case of neonatal cholestasis with hepatosplenomegaly and anaemia, which was diagnosed as Niemann Pick disease type C2. Thus, NP-C is an important differential diagnosis of neonatal cholestasis in the presence of visceromegaly.