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

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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.