Pediatria pre prax 6/2017

From the symptom to the syndrome

The authors in this paper point to the difficulty of diagnosing a child with primary immunodeficiency. Most primary immunodeficiencies are among rare diseases with an incidence of less than 1:100,000. There are currently no primary screening methods for primary immune deficiencies, and a significant part of the diagnosis consists of basic examination procedures, namely medical history, clinical picture, laboratory and diagnostic imaging examinations. No all of the symptoms may be present in the newborn and early infant. Case report is a patient with early and severe clinical manifestation of Wiskott-Aldrich syndrome without the presence of typical microthrombocytopenia in neonatal age.

Keywords: thrombocytopenia, primary immunodeficiency, infections, juvenile myelomonocytic leukemia, neonatal alloimmune thrombocytopenia, Wiskott-Aldrich syndrome