Case Report

Journal of Inherited Metabolic Disease

, Volume 33, Issue 3, pp 123-127

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

  • A. A. BroomfieldAffiliated withDepartment of Genetic Medicine, Royal Manchester Children’s HospitalDepartment of Metabolic Disease, Great Ormond Street Hospital for Children NHS Trust Email author 
  • , A. ChakrapaniAffiliated withBirmingham Children’s Hospital
  • , J. E. WraithAffiliated withDepartment of Genetic Medicine, Royal Manchester Children’s Hospital

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

Abstract

This article documents both the neurological and physical outcomes of the first published set of siblings undergoing transplantation at differing ages for α-mannosidosis. The older brother, the index case, was diagnosed at the age of 3 years and underwent transplantation at 13 years for the treatment of increasing somatic problems and recurrent infections. The younger brother had undergone transplantation pre-symptomatically at 6 months of age. Their clinical, radiological and developmental outcomes are documented and compared with the previous published cases, with the case for early transplantation being weighted against other potential therapies.