https://pubmed.ncbi.nlm.nih.gov/34572251/ Neimann Pick

Children (Basel). 2021 Sep 17;8(9):819.
doi: 10.3390/children8090819.

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

Line Modin 1 2, Vicky Ng 3, Paul Gissen 4, Julian Raiman 3, Eva Doreen Pfister 5, Anibh Das 5, René Santer 6, Hanna Faghfoury 3, Saikat Santra 2, Ulrich Baumann 7

Abstract
Background: To report on clinical presentation and outcomes of children who underwent liver transplantation (LTx) and were subsequently diagnosed to have Niemann-Pick type C (NPC).

Methods: Retrospective, descriptive, multi-centre review of children diagnosed with NPC who underwent LTx (2003-2018). Diagnosis was made by filipin skin test or genetic testing.

Results: Nine children were identified (six centres). Neonatal acute liver failure was the most common indication for LTx (seven children). Median age at first presentation: 7 days (range: 0-37). The most prevalent presenting symptoms: jaundice (8/9), hepatosplenomegaly (8/9) and ascites (6/9). 8/9 children had a LTx before the diagnosis of NPC. Genetic testing revealed mutations in NPC1 correlating with a severe biochemical phenotype in 5 patients. All 9 children survived beyond early infancy. Seven children are still alive (median follow-up time of 9 (range: 6-13) years). Neurological symptoms developed in 4/7 (57%) patients at median 9 (range: 5-13) years following LTx.

Conclusion: Early diagnosis of NPC continues to be a challenge and a definitive diagnosis is often made only after LTx. Neurological disease is not prevented in the majority of patients. Genotype does not appear to predict neurological outcome after LTx. LTx still remains controversial in NPC.

Published on: 
Sep-2021

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