Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report
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Date
2019-03
Journal Title
Journal ISSN
Volume Title
Publisher
Medip Academy
Abstract
Neimann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by inherited deficiency of acid sphingomyelinase enzyme or its transport which leads to deposition of sphingomylin and cholesterol in the lysosomes of reticuloendothelial system. It is characterized by failure to thrive, hepatospleenomeagaly and neurodegenerative changes. There are four subgroups of neimann pick disease, type A, B, C and D. Here authors are reporting a case of 5 months old female child presenting with persistent jaundice since neonatal period, progressive abdominal distention and failure to thrive. On examination patient had significant abdominal distension with moderate hepatosplenomegaly. On laboratory evaluation child diagnosed to have NPD type C. This case emphasizes the need to keep NPD in differential diagnosis of children presenting with persistent neonatal jaundice, hepatosplenomegaly, failure to thrive.
Description
Keywords
Lipid storage disorder, Niemann-Pick disease, Persistent neonatal jaundice
Citation
Narayana Jinka L., Rafi Shaik M., Ramisetti Uma M., Tumati Kedarnath R., Belavadi Gangadhar B.. Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report. International Journal of Contemporary Pediatrics. 2019 Mar; 6(2): 893-896