PROGRESSIVE LANGERHANS CELL HISTIOCYTOSIS IN AN INFANT WITH KLINEFELTER SYNDROME SUCCESSFULLY TREATED WITH ALLOGENEIC BONE-MARROW TRANSPLANTATION

Purpose: We describe successful treatment of an infant with progressiv e Langerhans cell histiocytosis (LCH) with allogeneic bone marrow tran splantation (BMT), and discuss a chromosomal abnormality discovered in his LCH-affected tissue. Patients and Methods: A 4-month-old male inf ant with a seborrheic-appearing rash, respiratory collapse, and sponta neous pneumothorax is presented. LCH was diagnosed with primary involv ement of skin and lungs. His disease progressed despite aggressive mul tiagent chemotherapy that included high-dose methylprednisolone, vinbl astine, cyclophosphamide, methotrexate, 2-chlorodeoxyadenosine, and et oposide. Results: The patient was successfully treated with myeloablat ive therapy and low-dose total body irradiation followed by allogeneic BMT at the age of 16 months, at which time he had multisystem involve ment. One hundred percent 47XXY/14p+ cells were identified from a lung biopsy; peripheral blood chromosomal analysis demonstrated mosaic 47X XY/14p+, and normal 46XY. Conclusions: Allogeneic BMT may be used succ essfully in the treatment of refractory, progressive LCH in infants, w ho are at highest risk of mortality. The cytogenetic association betwe en Klinefelter syndrome and LCH has not been described previously. Cyt ogenetic analysis of other patients with LCH may be beneficial in dete rmining a genetic association between LCH and Klinefelter syndrome and /or abnormalities of chromosome 14.