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JIMD Rep. 2019 Mar 14;46(1):46-51. doi: 10.1002/jmd2.12008. eCollection 2019 Mar.

Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review.

Author information

1
Division of Hematology-Oncology, Department of Pediatrics McGill University Health Center Montreal Quebec Canada.
2
Division of Medical Genetics, Department of Human Genetics McGill University Montreal Quebec Canada.
3
Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University Madinah Saudi Arabia.
4
Department of Pediatrics CHU de Québec-Université Laval Quebec Québec Canada.
5
Division of Hematology-Oncology, Department of Pediatrics CHU Sainte-Justine, University of Montreal Montreal Quebec Canada.
6
Division of Genetics, Department of Pediatrics Université de Sherbrooke Sherbrooke Quebec Canada.
7
Department of Pediatrics McGill University Montreal Quebec Canada.

Abstract

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.

KEYWORDS:

ASAH1; Farber disease; acid ceramidase; hematopoietic stem cell transplant; lysosomal storage disorder; macrophage

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