Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review.
ASAH1
Farber disease
acid ceramidase
hematopoietic stem cell transplant
lysosomal storage disorder
macrophage
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
18
12
2018
accepted:
20
12
2018
entrez:
27
6
2019
pubmed:
27
6
2019
medline:
27
6
2019
Statut:
epublish
Résumé
Farber disease (FD) is an inherited autosomal recessive disorder of lipid metabolism. The hallmark of the disease is systemic accumulation of ceramide due to lysosomal acid ceramidase deficiency. The involvement of the central nervous system is critical in this disorder leading to rapid deterioration and death within a few years after birth. Efforts to treat patients by hematopoietic stem cell transplant (HSCT) have resulted in favorable results in the absence of neurological manifestations. We report the outcomes of HSCT in two patients with FD who received early HSCT and had neurological deterioration posttransplant. We also present a new understanding of the limitations of HSCT in FD management based on our observations of the clinical course of the two patients after therapy.
Identifiants
pubmed: 31240154
doi: 10.1002/jmd2.12008
pii: JMD212008
pmc: PMC6498832
doi:
Types de publication
Journal Article
Langues
eng
Pagination
46-51Déclaration de conflit d'intérêts
There are no conflicts of interest to declare.
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