title: Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis.
abstract: Alpha-mannosidosis is a rare lysosomal storage disorder with an autosomal recessive inheritance. Deficient alpha-mannosidase activity leads to lysosomal accumulation of mannose-rich oligosaccharides. The disease characterized by mental retardation, skeletal changes, hearing impairment, and recurrent infections. Stem cell transplantation has been shown to be an effective treatment. It works by providing increased levels of α-mannosidase in the localized extracellular milieu to provide improvements in skeletal malformations, neurocognitive, and sensorineural function. In this case report, we describe a pair of siblings with α-mannosidosis who successfully underwent HSCT from matched unrelated donors. In both siblings, enzyme levels reached to normal limits and improvements in clinical symptoms were recognized early after HSCT. We conclude that HSCT should be considered as a therapeutic approach in patients with alpha-mannosidosis before disease-related complications have developed.
authors: Department of Pediatric Hematology-Oncology, School of Medicine, Akdeniz University, Antalya, Turkey. yesilipek@akdeniz.edu.tr
authors: Akif M
authors: AM
authors: Yesilipek
authors: Mediha
authors: M
authors: Akcan
authors: Gulsun
authors: G
authors: Karasu
authors: Vedat
authors: V
authors: Uygun
authors: Alphan
authors: A
authors: Kupesiz
authors: Volkan
authors: V
authors: Hazar
mesh_terms: D016026:Bone Marrow Transplantation / Q000379:methods*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009844:Oligosaccharides / Q000737:chemistry; D012008:Recurrence; D035781:Siblings; D013234:Stem Cells / Q000166:cytology; D014184:Transplantation, Homologous / Q000379:methods*; D016896:Treatment Outcome; D008363:alpha-Mannosidosis / Q000628:therapy*
chemical_list: D009844:Oligosaccharides