Niemann-Pick disease type C-presenting as persistent neonatal
Descrição
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](https://www.researchgate.net/publication/26648459/figure/fig2/AS:310077916499985@1450939744895/Progression-of-Niemann-Pick-type-C-disease-in-mice-and-humans.png)
Progression of Niemann–Pick type C disease in mice and humans
![Niemann-Pick disease type C-presenting as persistent neonatal](https://assets.medlink.com/content/article-media/npmv2b.jpg)
Niemann-Pick disease type C
![Niemann-Pick disease type C-presenting as persistent neonatal](https://www.tandfonline.com/cms/asset/65fd9d02-1ef6-40d2-8881-afae8018c017/dtcr_a_5777_f0003_b.jpg)
Full article: New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
![Niemann-Pick disease type C-presenting as persistent neonatal](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41598-019-46268-8/MediaObjects/41598_2019_46268_Fig1_HTML.png)
Adenosine A2A receptor stimulation restores cell functions and differentiation in Niemann-Pick type C-like oligodendrocytes
![Niemann-Pick disease type C-presenting as persistent neonatal](https://www.researchgate.net/publication/317182674/figure/fig4/AS:622249371516929@1525367219756/Niemann-Pick-type-C-disease-is-associated-with-mtDNA-disorganization-A-Frequency.png)
Niemann-Pick type C disease is associated with mtDNA disorganization.
![Niemann-Pick disease type C-presenting as persistent neonatal](https://ars.els-cdn.com/content/image/1-s2.0-S1096719221007411-gr2.jpg)
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States - ScienceDirect
![Niemann-Pick disease type C-presenting as persistent neonatal](https://www.researchgate.net/publication/23248158/figure/fig1/AS:394492042596352@1471065640398/Lipid-trafficking-defects-in-Niemann-Pick-type-C-disease.png)
Lipid trafficking defects in Niemann-Pick type C disease
![Niemann-Pick disease type C-presenting as persistent neonatal](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1750-1172-5-16/MediaObjects/13023_2009_Article_179_Fig1_HTML.jpg)
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
![Niemann-Pick disease type C-presenting as persistent neonatal](https://jcsm.aasm.org/cms/asset/39b6d3a7-cdec-426f-914b-4ac2fe089161/jcsm.10310f1.jpg?download)
Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases
![Niemann-Pick disease type C-presenting as persistent neonatal](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-023-02804-4/MediaObjects/13023_2023_2804_Fig3_HTML.png)
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study, Orphanet Journal of Rare Diseases
![Niemann-Pick disease type C-presenting as persistent neonatal](https://assets.medlink.com/content/article-media/npmv1b.jpg)
Niemann-Pick disease type C
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