Open AccessHematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review
Author(s) -
Goudie Catherine,
Alayoubi Abdulfatah M.,
Tibout Pauline,
Duval Michel,
Maranda Bruno,
Mitchell David,
Mitchell John J.
Publication year - 2019
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12008
Subject(s) - medicine , hematopoietic stem cell transplantation , disease , hematopoietic stem cell , stem cell , pediatrics , haematopoiesis , acid sphingomyelinase , central nervous system , biology , cholesterol , sphingomyelin , genetics
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.