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Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase
Christel Baguette1, Christiane Vermylen, Bénédicte Brichard
1Department of Pediatric Hematology and Oncology, Cliniques Universitaires St. Luc, Brussels, Belgium.
Journal of Pediatric Hematology/Oncology
|March 21, 2002
Abstract:
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.