Severe osteopenia with recurrent fractures after bone marrow transplant for Wiskott-Aldrich syndrome: a case report

Wiskott-Aldrich syndrome (WAS) is a rare inherited disorder characterised by thrombocytopenia, eczema, and immunodeficiency. Bone marrow transplantation (BMT) is a well-established modality of treatment now routinely used and often curative. We report the case of a boy who developed osteopenia and sustained multiple long-bone fractures over a 5-year period after bone marrow transplant for WAS. The femora and tibiae of both lower limbs were involved with a clinical presentation similar to osteogenesis imperfecta. After commencing calcitriol treatment at the age of 8 years, the patient has not sustained any further fractures. He is now 11 years old. Although short-term changes in bone metabolism after BMT have been documented, the occurrence of repeated fractures associated with osteopenia has not been previously reported.