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Purine Nucleoside Phosphorylase Deficiency in a Patient With Spastic Paraplegia and Recurrent Infections

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey

Sacide Pehlivan, PhD

Department of Biology, Faculty of Medicine, Ege University, Izmir, Turkey

Huseyin Onay, MD, PhD

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey, honay{at}med.ege.edu.tr

Paul van den Berg, PhD

Department of Clinical Genetics, University Medical Center, Erasmus University, Rotterdam, Netherlands

Fadil Vardar, MD

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey

Guldane Koturoglu, MD

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey

Guzide Aksu, MD

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey

Durisehvar Unal, PhD

Department of Molecular Genetics, Faculty of Science, Bogazici University, Istanbul, Turkey

Hasan Tekgul, MD

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey

Sema Can, MD

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey

Cihangir Ozkinay, MD

Department of Medical Genetics Faculty of Medicine, Ege University, Izmir, Turkey

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disease. The characteristic features of the disease include severe T cell immune defects with recurrent infections, a failure to thrive, and progressive neurological findings. To date, 35 cases of purine nucleosidase phosphorylase deficiency have been reported worldwide. A 2-year-old female patient was hospitalized due to recurrent infections starting from 6 months and a fever that had continued for a month. The parents were first cousins. Physical examination showed a failure to thrive, herpetic lesions around the lips, painful lesions on the tongue and the buccal mucosa, lung infection, and spastic paraparesis in the lower extremities. She had motor and mental retardation. Laboratory tests revealed lymphopenia; low CD3, CD4, and CD8 counts; normal immunoglobulin levels; low uric acid; and very low purine nucleoside phosphorylase enzyme activity (1.4 nmol/h/mg; normal range, 490-1530). DNA sequencing of the purine nucleosidase phosphorylase gene revealed a missense homozygous mutation, a G to A transition at exon 4 position 64 (349G>A transition), which led to a substitution of alanine by threonine at codon 117 (Ala117Thr). Both parents were heterozygous for the mutation. This is the second purine nucleosidase phosphorylase deficient case to have been presented and carrying this mutation worldwide. Various antibiotics, antifungal drugs, and intravenous immunoglobulin were used to treat the infections during her 3 months. This form of treatment proved to be unresponsive, resulting in her subsequent death at 26 months of age.

Key Words: purine nucleoside phosphorylase deficiency

Journal of Child Neurology, Vol. 22, No. 6, 741-743 (2007)
DOI: 10.1177/0883073807302617


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