Niemann-Pick disease type C-presenting as persistent neonatal
Por um escritor misterioso
Last updated 27 maio 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.
Baby from Merthyr Tydfil born with rare genetic condition with no cure
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Figure 5 from Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
Genes, Free Full-Text
Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
IJMS, Free Full-Text
PDF] Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician
Lipid trafficking defects in Niemann-Pick type C disease
Natural history and management of liver dysfunction in lysosomal storage disorders
Niemann-Pick disease type C as a neurovisceral disease. Schematic
Niemann-Pick disease type C
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