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Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.

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Baguette, Christel Vermylen, Christiane [UCL] Brichard, Bénédicte [UCL] Louis, Jacques Dahan, Karin [UCL] Vincent, Marie-Françoise [UCL] Cornu, Guy [UCL]

A 10-month-old girl with a history of recurrent candidiasis, developmental delay, and a fulminant varicella infection is described. The diagnosis of purine nucleoside phosphorylase (PNP) deficiency was suggested by a reduced level of serum uric acid and confirmed by measurement of PNP activity. A human leukocyte antigen-matched bone marrow transplantation resulted in immune reconstitution, but poor neurodevelopmental progression.

Bibliographic reference Baguette, Christel ; Vermylen, Christiane ; Brichard, Bénédicte ; Louis, Jacques ; Dahan, Karin ; et. al. Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.. In: Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology, Vol. 24, no. 1, p. 69-71 (2002)
Permanent URL http://hdl.handle.net/2078.1/26632