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

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.

Figure 1

Correction of liver enzymes corresponds to the drop of peripheral leukocytes levels during conditioning and post‐HSCT. A, Peripheral blood levels of WBC and monocytes pre‐ and post‐HSCT. B, Plasma levels of ALT and AST pre‐ and post‐HSCT. ALT, alanine aminotransferase; AST, aspartate aminotransferase; HSCT, hematopoietic stem cell transplant; WBC, white blood cells