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Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

Niemann-Pick disease Type C (NPC) is a rare autosomal recessive neurovisceral lysosomal disorder. Perinatal and early infantile onset NPC are the most severe types of the disease. Early infantile type is characterized by a rapidly progressive neurodegenerative course, which entails significant morbi...

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Detalles Bibliográficos
Autores principales: Curelaru, Shiri, Zehavi, Yoav, Almagor, Tal, Spiegel, Ronen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941164/
https://www.ncbi.nlm.nih.gov/pubmed/33732620
http://dx.doi.org/10.1016/j.ymgmr.2021.100739
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author Curelaru, Shiri
Zehavi, Yoav
Almagor, Tal
Spiegel, Ronen
author_facet Curelaru, Shiri
Zehavi, Yoav
Almagor, Tal
Spiegel, Ronen
author_sort Curelaru, Shiri
collection PubMed
description Niemann-Pick disease Type C (NPC) is a rare autosomal recessive neurovisceral lysosomal disorder. Perinatal and early infantile onset NPC are the most severe types of the disease. Early infantile type is characterized by a rapidly progressive neurodegenerative course, which entails significant morbidity and usually results in death within 5 years. Miglustat, an iminosugar that selectively inhibits the glycosylceramide synthase enzyme, is known to stabilize or delay neurological progression in individuals with NPC, but its impact on affected infants is yet to be elucidated. We present two siblings with early infantile NPC due to the previously reported devastating homozygous mutation c.2279_2281delTCT in NPC1. Their considerably discrepant neurological disease courses were dependent on the timing of initiation of miglustat treatment. The outcomes support the significant role of early treatment with miglustat in the disease course of early infantile NPC and suggest that therapy should be considered even before the occurrence of neurological involvement. Moreover, this report emphasizes the importance of early diagnosis, in light of the availability of a potential disease-modifying medication.
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spelling pubmed-79411642021-03-16 Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C Curelaru, Shiri Zehavi, Yoav Almagor, Tal Spiegel, Ronen Mol Genet Metab Rep Case Report Niemann-Pick disease Type C (NPC) is a rare autosomal recessive neurovisceral lysosomal disorder. Perinatal and early infantile onset NPC are the most severe types of the disease. Early infantile type is characterized by a rapidly progressive neurodegenerative course, which entails significant morbidity and usually results in death within 5 years. Miglustat, an iminosugar that selectively inhibits the glycosylceramide synthase enzyme, is known to stabilize or delay neurological progression in individuals with NPC, but its impact on affected infants is yet to be elucidated. We present two siblings with early infantile NPC due to the previously reported devastating homozygous mutation c.2279_2281delTCT in NPC1. Their considerably discrepant neurological disease courses were dependent on the timing of initiation of miglustat treatment. The outcomes support the significant role of early treatment with miglustat in the disease course of early infantile NPC and suggest that therapy should be considered even before the occurrence of neurological involvement. Moreover, this report emphasizes the importance of early diagnosis, in light of the availability of a potential disease-modifying medication. Elsevier 2021-03-06 /pmc/articles/PMC7941164/ /pubmed/33732620 http://dx.doi.org/10.1016/j.ymgmr.2021.100739 Text en © 2021 The Authors. Published by Elsevier Inc. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Curelaru, Shiri
Zehavi, Yoav
Almagor, Tal
Spiegel, Ronen
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
title Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
title_full Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
title_fullStr Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
title_full_unstemmed Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
title_short Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
title_sort favorable outcomes following early onset oral miglustat in early infantile niemann pick type c
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941164/
https://www.ncbi.nlm.nih.gov/pubmed/33732620
http://dx.doi.org/10.1016/j.ymgmr.2021.100739
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