P117 Chronic granulomatous disease in children – case presentation

• Published in: Archives of disease in childhood Vol. 102; no. Suppl 2; p. A79
• Main Authors: Singer, Cristina Elena, Tra c, Diana, Co oveanu, Carmen Simona, Petrescu, Ileana Octavia, Puiu, Ileana, Stancu, Polixenia
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group LTD 01.06.2017
• Subjects: Attrition (Research Studies); Chronic granulomatous disease; E coli; Fetuses; Immune system; Immunodeficiency; Infections; Leukocytes (neutrophilic); Males; Mortality; Primary immunodeficiencies; Sepsis
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/archdischild-2017-313273.205

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency.We present a case of this disease in a male child who was monitored by the Oncopediatrics Department of the Emergency County hospital Craiova from April 2015, when he was 2 years and 9 months to November 2016, when 3 years and 4 months. The anamnesis of this patient revealed high mortality because of the infectious pathology in his male relatives (2 uncles and 3 brothers who deceased when very young, among them twins with sepsis); 6 intrauterine fetal deaths, males; a healthy sister.The patient had numerous infections ever since he was born (cutaneous staphylococci infections) then some other infections with other locations (staphylococci pneumonia, urinary infections with E Coli, digestive infections, and systemic infections with Proteus mirabilis) which required repeated treatments given by his family physician and many admissions to hospital.Taking into account the heredo-collateral and personal history of an infectious nature, we suspected a primary immunodeficiency even from his first admission to the Oncopediatrics Department. We finally performed BURTEST (the quantitative assessment of the oxidative burst of the neutrophils) but the result which confirmed our CGD suspicion came 3 days after the patient’s death.Although we could not perform tests in order to tell the type of the genetic mutation and taking into consideration that mortality was registered only in males, we could affirm that it is a CGD with X-linked recessive transmission.