Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report
Por um escritor misterioso
Last updated 19 setembro 2024
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.
Pediatric hepatocellular carcinoma associated with Niemann–Pick
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Children, Free Full-Text
Distinct Niemann-Pick Disease Type C Clinical, Cytological, and
Frontiers Case Report: Be Aware of “New” Features of Niemann
Figure 5 from Laboratory diagnosis of Niemann-Pick disease type C
Niemann-Pick Disease Type C
Recommendations for the detection and diagnosis of Niemann-Pick
SciELO - Brasil - Distinct Niemann-Pick Disease Type C Clinical
Recomendado para você
-
Niemann-Pick tipo C - Blog Mendelics19 setembro 2024
-
Niemann-Pick disease type C as a neurovisceral disease. Schematic19 setembro 2024
-
Rare Diseases Research: Clinical Trial for Niemann-Pick Type C19 setembro 2024
-
Revista de Pediatria SOPERJ19 setembro 2024
-
What You See and What You Don't: Diagnosing Niemann Pick, Type C - Complex Child19 setembro 2024
-
What is Niemann Pick Type C - Race for Adam19 setembro 2024
-
Walgreen's Support Allows Our Twins with Niemann Pick Type C To Receive Cyclodextrin Treatments At Home19 setembro 2024
-
Niemann–Pick disease - Wikipedia19 setembro 2024
-
IJMS, Free Full-Text19 setembro 2024
-
NNPDF on X: #NNPDF partnered with @RareDiseases to create this animated educational resource on Niemann Pick Type C. Please help us raise awareness of #NPC by sharing this video with your networks19 setembro 2024
você pode gostar
-
Kakashi: Shadow of the ANBU Black Ops – Hashirama's Cells, NARUTO: SHIPPUDEN19 setembro 2024
-
Peças de Xadrez Modelo Profissional Jaehrig sem Damas Extras, Jogo de Tabuleiro Jaehrig Nunca Usado 9114799119 setembro 2024
-
Playstation Plus Essencial: Revelado os jogos de abril de 202319 setembro 2024
-
Pokémon Sword e Shield - Rental Teams (Times de Aluguel) Season 919 setembro 2024
-
Mean Well LPV-100-12 100W Single Output Switching Power Supply with 8.5 Amp Rated Current and 12V DC Voltage19 setembro 2024
-
Download Swag Girl from Sudden Attack 2 for GTA San Andreas19 setembro 2024
-
Ben 10 (Classic) - Apple TV19 setembro 2024
-
Video: Sonic Mania Adventures: Part 3 Now Available Online - My Nintendo News19 setembro 2024
-
Trade Supermercado Jumbo on Behance19 setembro 2024
-
Facebook Lite c'est fini, l'application n'est plus disponible sur l'App Store19 setembro 2024