1 – Unidade de Cuidados Intensivos Pediátricos, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
2 – Unidade de Imunodeficiências Primárias, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
3 – Unidade de Infecciologia, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
4 – Unidade de Cirurgia Hepato-Bilio-Pancreática, Hospital Curry Cabral, Centro Hospitalar Lisboa Central, E.P.E.;
5 – Serviço de Cirurgia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
6 – Serviço de Genética, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.
- Excellence in Paediatrics, Madrid, Espanha, 28 Novembro-1 Dezembro 2012 (Poster).
Introduction: Chronic Granulomatous Disease (CGD) is a rare, genetically heterogeneous disorder, characterized by life-threatening bacterial and fungal infections and granuloma formation. Different mutations cause different impairment of NADPH oxidase subunits in phagocytic cells. Liver abscess can be the presenting manifestation of the disease (3% of the cases).
Case Report: A 10 year-old african girl from S. Tomé and Príncipe, previously healthy and living in Portugal for the last three years, was admitted to our hospital with an acute abdomen. Imaging studies revealed a large abscess involving the right hepatic lobe. She was started on ampicilin, gentamicin and metronidazole, and due to hemodynamic instability, was transferred to the Pediatric Intensive Care Unit. Blood culture grew a Staphylococcus aureus and antibiotherapy was adjusted accordingly. She was submitted to three surgical interventions: an exploratory laparoscopy; a laparotomy with abscess drainage of purulent content (isolation of Pseudomonas aeruginosa, Staphylococcus aureus) and a laparotomy with right-side hepatectomy (isolation of Candida parapsilosis). The oxidative burst revealed an impairment of the production of superoxide, thus establishing the diagnosis of autosomal recessive CGD (genetic characterization is ongoing). Despite aggressive measures clinical deterioration occurred, with a rapid progression to multiple organ failure and death.
Discussion:Unusual visceral abscesses should raise the suspicion of neutrophil dysfunction, irrespective of the patient's age. In CGD, residual NAPDH oxidase function relates to milder phenotypes and older age presentation. It is important to establish prompt diagnosis of CGD in order to apply specific therapeutic measures, which may prevent other complications and improve the outcome.
Key-words: hepatic abscess, chronic granulomatous disease.