Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation

Fucosidosis is a rare autosomal recessive lysosomal disorder caused by cu-f ucosidase deficiency. We report a child with fucosidosis, second daughter o f non-consanguineous parents, for whom biochemical diagnosis followed clini cal evidence of the disease in her older sister. Based on previous experien ces, the indication to transplant was considered. Since she lacked a matche d sibling, an unrelated marrow donor was found. At pre-hematopoietic stem c ell transplantation evaluation, first signs of neurological involvement wer e clinically detectable, MRI showed diffuse hypomyelination and auditory br ainstem responses and somatic-sensorial evoked potentials were altered. Vis ual evoked potentials were normal, tortuosity in the retinal veins and peri papillary hemorrhages were detected, Bone marrow transplantation conditioni ng was with a regimen of busulphan, thiotepa and cyclophosphamide; in vivo Campath IG, cyclosporin A and short course methotrexate were given to preve nt graft-versus-host disease. The patient engrafted rapidly and her post-tr ansplant course was complicated by moderate graft-versus-host disease, tran sient episodes of idiopathic: thrombocytopenic purpura, repeated septic com plications and recurrent episodes of Sweet's syndrome. Sequential short tan dem repeat polymorphisms on peripheral blood and bone marrow cells document ed the persistence of donor engraftment, Follow-up showed a progressive ris e of enzymatic levels, Psychomotor development improved, as confirmed by ev aluation of evoked potentials and by MRI scanning.