Metabolic Brain Disease

, Volume 27, Issue 2, pp 193–196

Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome

  • Krisztián Kállay
  • Zoltán Liptai
  • Gábor Benyó
  • Csaba Kassa
  • Veronika Goda
  • János Sinkó
  • Ágnes Tóth
  • Gergely Kriván
Original Paper

Abstract

Lesch-Nyhan syndrome (LNS) is a chronic, progressive neurodevelopmental disorder causing motor and behavioral dysfunction due to decreased synthesis of the enzyme hypoxantine-guanine phosphoribosyltransferase (HPRT). Affected boys have mental retardation, delayed development, extrapyramidal motor disturbances and self-injuring behavior. As hematopoietic stem cell transplantation (HSCT) has been shown to be effective in several neurodevelopmental inborn errors, we hypothesized that it could be favorable in LNS as well. Following a myeloablative conditioning regimen (busulphan 3.2 mg/kg/day for 4 days, cyclophosphamide 60 mg/kg/day for 2 days with ATG Thymoglobin 2.5 mg/kg/day for 4 days) an unrelated umbilical cord blood unit was transfused at the age of 2 years. The graft was a 6/6 HLA-matched at HLA-A, B loci by antigen level, and at DRB1 by allelic level typing. Infused total nucleated cell dose was 3.6 × 10e7 per kilogram body weight. Serum HPRT levels reached normal values by the end of the sixth month post transplant. Slow neurodevelopmental improvement seen during the three-year follow-up and the missing self-injuring behavior can be considered as a proof for the presence of enzyme-competent cells behind the blood–brain barrier.

Keywords

Lesch-Nyhan syndrome Transplantation HSCT UCB Cord blood Unrelated 

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Krisztián Kállay
    • 1
  • Zoltán Liptai
    • 1
  • Gábor Benyó
    • 1
  • Csaba Kassa
    • 1
  • Veronika Goda
    • 1
  • János Sinkó
    • 1
  • Ágnes Tóth
    • 1
  • Gergely Kriván
    • 1
  1. 1.Pediatric Hematology and Stem Cell Transplantation UnitUnited St. István and St. László HospitalBudapestHungary

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