Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome.

Metabolic Brain Disease
Krisztián KállayGergely Kriván

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 b...Continue Reading

References

Jan 1, 1991·Journal of Inherited Metabolic Disease·W EndresR Hass
Jan 1, 1986·Advances in Experimental Medicine and Biology·W L NyhanT Friedmann
Nov 9, 2000·Pediatric Neurology·B S MakH Y Lin
Sep 11, 2003·Clinical Pharmacology and Therapeutics·Dana DresselHeyo K Kroemer
Nov 25, 2005·Pediatric Transplantation·Asif MahmoodAnn Moser
Sep 10, 2008·Archives of Neurology·Uros HladnikMatteo Bertelli
Feb 24, 2010·Brain : a Journal of Neurology·H A JinnahUNKNOWN Lesch-Nyhan Disease International Study Group
Jun 19, 2010·Archives of Neurology·Kyriakie SarafoglouWilliam L Nyhan

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