Case Report
Volume 9 Issue 4 - 2020
When the Main Symptom is Missing
Zuzana Podmanická1*, Viera Rajčanová1, Katarína Okáľová1, Karol Králinský1,5, Eva Bubanská2, Helena Fillová2, Peter Čižnár3, Júlia Horáková4, Sabina Šufliarska6 and Alica Chocholová7
1II Pediatrics Clinics, Children University Hospital, Banska Bystrica, Slovakia
2Pediatrics Hematooncology Clinics, Children University Hospital, Banská Bystrica, Slovakia
3Pediatrics Clinics, Faculty of Medicine, Comenius University and National Institute of Childhood Diseases, Bratislava, Slovakia
4Bone Marrow Transplant Unit, KDHAO LF UK and NÚDCH Bratislava, Slovakia
5Faculty of Health of SZU with its registered office in Banská Bystrica, Slovakia
6General Ambulance for Children and Adolescents, Bratislava-Dúbravka, Slovakia
7General Doctor for Children and Adolescents, Bratislava 3 - Kramáre, Slovakia
*Corresponding Author: Zuzana Podmanická, II Pediatrics Clinics, Children University Hospital, Banská Bystrica, Slovakia.
Received: February 21, 2020; Published: March 10, 2020


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


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Citation: Zuzana Podmanická., et al. “When the Main Symptom is Missing”. EC Paediatrics 9.4 (2020): 10-17.

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