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Case report A 2. She presented at the age of 11 months with characteristic features of FD including hoarseness, multiple subcutaneous skin nodules and decreased range of motion of digital ts. Diagnosis of the disease was confirmed by genetic assessment that was homozygote mutation for c. Cranial MRI and spiral chest CT scan were normal and no other organ involvement was found at that time. GvHD prophylaxis consisted of standard methotrexate and cyclosporine. Her characteristic hoarseness disappeared gradually during the first year after HSCT, and, most importantly, her t mobility improved within the second year after transplantation.
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