Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period

P Landrieu; S Blanche; M T Vanier; S Metral; B Husson; K Sandhoff; A Fischer

doi:10.1016/s0022-3476(98)70191-x

Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period

J Pediatr. 1998 Jul;133(1):129-32. doi: 10.1016/s0022-3476(98)70191-x.

Authors

P Landrieu¹, S Blanche, M T Vanier, S Metral, B Husson, K Sandhoff, A Fischer

Affiliation

¹ Department of Pediatric Neurology, Bicêtre Hospital, University of Paris, France.

PMID: 9672525
DOI: 10.1016/s0022-3476(98)70191-x

Abstract

A 2-year-old child had a metachromatic leukodystrophy-variant phenotype mainly involving the peripheral nervous system (PNS) that was caused by saposin-B deficiency. Bone marrow transplantation resulted in transient deterioration then continuous improvement of PNS functions. These findings were supported by nerve conduction velocity measurements, but the symptoms ultimately worsened. Magnetic resonance imaging showed persistent white matter lesions and progressive pontocerebellar atrophy.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Bone Marrow Transplantation*
Brain / pathology
Child, Preschool
Glycoproteins / deficiency*
Humans
Leukodystrophy, Metachromatic / pathology
Leukodystrophy, Metachromatic / physiopathology
Leukodystrophy, Metachromatic / therapy*
Magnetic Resonance Imaging
Male
Neural Conduction
Peripheral Nervous System / physiology
Saposins
Sphingolipid Activator Proteins

Substances

Glycoproteins
PSAP protein, human
Saposins
Sphingolipid Activator Proteins