RRML - Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease

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Nr. 22(3)/2014 DOI:10.2478/rrlm-2014-0027

Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease

Alexis-Virgil Cochino, Jean-Louis Pérignon, Mihaela Bătăneanț, Mihai Craiu, Ioan Gherghina, Margit Șerban

Abstract:

We describe the case of a 15 month old boy, investigated for repeated and prolonged infections, associated to progressive neurological impairment. Immunological work-up found low immunoglobulin levels and decreased numbers of T and B lymphocytes, with a T-B-NK+ phenotype. Imaging showed lack of thymus and cerebral cortex atrophy. The key towards the diagnosis was plasma uric acid determination: hypouricemia suggested purine nucleoside phosphorylase deficiency, a very rare disease, with only 67 reported cases worldwide. Diagnosis was confirmed by enzyme activity measured using a radioisotopic method.

Keywords: hypouricemia, primary immunodeficiency, severe combined immunodeficiency, purine nucleoside phosphorylase deficiency

Received: 20.8.2013
Accepted: 12.7.2014
Published: 31.8.2014

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Cochino AV, Pérignon JL, Bătăneanț M, Craiu M, Gherghina I, Șerban M. Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease. Rev Romana Med Lab. 2014;22(3):321-3. DOI:10.2478/rrlm-2014-0027