<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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.</p></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.

Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia către diagnosticul unui caz de deficit de purin nucleozid fosforilază, o boală rară si severă

University of Medicine and Pharmacy “Carol Davila” and Institute for Mother and Child Care “Alfred Rusescu” Bucharest, România;

Hôpital des Enfants Malades, Assistance Publique-Hôpitaux de Paris & Université Paris 5, France

University of Medicine and Pharmacy “Victor Babeş” and Emergency Children’s Hospital “Louis Țurcanu”, Timişoara, România

University of Medicine and Pharmacy “Carol Davila” and Institute for Mother and Child Care “Alfred Rusescu” Bucharest, România

Revista Romana de Medicina de Laborator

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

We describe the case of a 15 month old boy, investigated for repeated and prolonged infections, associated to progressive neurological impairment....

Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia către diagnosticul unui caz de deficit de purin nucleozid fosforilază, o boală rară si severă

Published Online: Oct 08, 2014

Page range: 321 - 323

Received: Aug 20, 2013

Accepted: Jul 12, 2014

DOI: https://doi.org/10.2478/rrlm-2014-0027

Keywords
hypouricemia;primary immunodeficiency;severe combined immunodeficiency;purine nucleoside phosphorylase deficiency

© by Alexis-Virgil Cochino

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia către diagnosticul unui caz de deficit de purin nucleozid fosforilază, o boală rară si severă

Published Online: Oct 08, 2014

Page range: 321 - 323

Received: Aug 20, 2013

Accepted: Jul 12, 2014

DOI: https://doi.org/10.2478/rrlm-2014-0027

Keywordshypouricemia;primary immunodeficiency;severe combined immunodeficiency;purine nucleoside phosphorylase deficiency

© by Alexis-Virgil Cochino

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
hypouricemia;primary immunodeficiency;severe combined immunodeficiency;purine nucleoside phosphorylase deficiency