BONE-MARROW TRANSPLANTATION IN CARTILAGE-HAIR HYPOPLASIA - CORRECTIONOF THE IMMUNODEFICIENCY BUT NOT OF THE CHONDRODYSPLASIA

We diagnosed cartilage-hair hypoplasia (CHH) in a female child with pr enatal-onset short stature, metaphyseal chondrodysplasia, and severe c ombined immunodeficiency leading to recurrent, severe respiratory trac t infections. The patient required several hospital admissions during her 1st year of life and failed to thrive in spite of antimicrobial th erapy and hypercaloric nutrition. Bone marrow transplantation (BMT) fr om an HLA-identical sister was performed at age 16 months after condit ioning with busulphan and cyclophosphamide, using 9 x 10(8) nucleated bone marrow cells/kg body weight. Graft-versus-host disease prophylaxi s consisted of cyclosporine and methotrexate. The posttransplantation period was uneventful. She developed full and sustained chimerism as d emonstrated by DNA analysis of granulocytes and mononucleated cells on days 44, 69 and 455 post BMT. Cellular immunity was completely recons tituted at 4 months, humoral immunity at 15 months post BMT. The patie nt is alive and well 24 months post BMT without medication, but the ra diological osseous changes persist, and longitudinal growth remains ma rkedly below the 10th percentile for CHH standards; her height at age 3 years 4 months is 66 cm. Conclusions In this patient with unusually severe CHH, bone-marrow transplantation has fully corrected the immune deficiency but has had no influence on the course of the chondrodyspl asia.