Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report
Por um escritor misterioso
Last updated 11 setembro 2024
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](https://d3i71xaburhd42.cloudfront.net/96ffcfb2db44738f4192289bddfafe639ef0888e/2-Figure1-1.png)
This case emphasizes the need to keep NPD in differential diagnosis of children presenting with persistent neonatal jaundice, hepatosplenomegaly, failure to thrive. 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.
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary:20180521032346681-0732:S2056469400003260:S2056469400003260_fig1g.jpeg?pub-status=live)
Niemann-Pick type C disease – the tip of the iceberg? A review of
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Patient with Niemann-Pick disease type C: over 20 years' follow-up
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Cureus Niemann-Pick Disease Type A: A Rare Disease With a Fatal
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Niemann-Pick Disease Type C Presenting as a Developmental
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](https://checkrare.com/wp-content/uploads/2020/06/Niemann-Pick-Type-C-Thumb.jpeg)
Niemann–Pick Disease Type C
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](https://europepmc.org/articles/PMC5800709/bin/NEURCLINPRACT2017021501FFU1.jpg)
Recommendations for the detection and diagnosis of Niemann-Pick
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Guidelines for the Management of Cholestatic Liver Diseases (2021)
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](https://www.cancertherapyadvisor.com/wp-content/uploads/sites/12/2019/01/ch2595.fig1_.jpg)
Conjugated hyperbilirubinemia (cholestasis) - Cancer Therapy Advisor
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Niemann Pick Disease - an overview
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](http://malacards.blob.core.windows.net/network-images-v5-17-5/neonatal_jaundice_related_diseases.jpg)
Neonatal Jaundice disease: Malacards - Research Articles, Drugs
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](https://pubs.acs.org/cms/10.1021/acs.molpharmaceut.2c00463/asset/images/large/mp2c00463_0002.jpeg)
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-022-02200-4/MediaObjects/13023_2022_2200_Fig3_HTML.png)
Clinical disease characteristics of patients with Niemann-Pick
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](https://f6publishing.blob.core.windows.net/3662ea19-a6bc-493e-90aa-0dba2724d607/WJH-14-1844-g005.png)
Natural history and management of liver dysfunction in lysosomal
![Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report](https://assets.medlink.com/content/article-media/npmv1.jpg)
Niemann-Pick disease type C
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