1 – Unidade de Cuidados Intensivos Pediátricos, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
2 – Unidade de Imunodeficiências, 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.
- Cirurgia do tubo digestivo minimamente invasiva na criança e no adolescente no 13º Congresso Nacional de Pediatria Tróia, 11 de Outubro de 2012 a 13 de Outubro de 2012 (Apresentação).
Introduction: Chronic Granulomatous Disease (CGD) is a rare genetically heterogeneous disorder, characterized by life-threatening bacterial and fungal infections and granuloma formation. Most mutations are X-linked and are responsible for defects in phagocyte NADPH oxidase. Frequent sites of infection include lungs, skin, lymph nodes and liver (27%).
Case Report: A 10 year-old african girl from S. Tomé and Príncipe, previously healthy and living in Portugal for three years, was admitted to our hospital with acute abdomen. Imaging studies revealed an huge abscess involving the right side of the liver. She was started on ampicilin, gentamicin and metronidazole, and due to hemodynamic instability, she was transferred to the Pediatric Intensive Care Unit.
Blood culture was positive for Staphylococcus aureus and antibiotherapy was adjusted. She was submitted to three surgical interventions: an exploratory laparoscopy (D5); a laparotomy with abscess drainage of purulent content with isolation of Pseudomonas aeruginosa) and a laparotomy with right-side hepatectomy with isolation of Candida parapsilosis. Neutrophil function tests were performed, revealing normal phagocytic capacity, however superoxide production was decreased. (The) Genetic study is still in progress. Despite aggressive measures, including inotropics, mechanical ventilation and hemodiafiltration, clinical deterioration occurred, with a rapid progression to multiple organ failure and, after 31 days of hospitalization, death.
Discussion: Unusual visceral abscesses should raise the suspicion of primary immunodeficiency; in CGD, catalase-positive, Gram negative bacteria and fungi are frequently involved. A prompt diagnosis and adequate treatment (antibiotics and surgical resection) may prevent more complications and improve the outcome of this severe disease.