Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency.

UNLABELLED: Bordetella pertussis or whooping cough is a vaccine-preventable disease that still remains a serious infection in neonates and young infants. We describe two young infants, monozygotic twins, with a severe B. pertussis pneumonia of whom one needed extracorporeal membrane oxygenation. Diagnostic work-up of unexplained hematuria and proteinuria during the illness revealed low serum complement component 3 (C3) levels. During follow-up, C3 levels remained low (400-600 mg/L). Extensive analysis of the persistent low C3 levels revealed an unknown heterozygous mutation in the C3 gene in both siblings and their mother. This C3 mutation in combination with the specific virulence mechanisms of B. pertussis probably contributed to the severe disease course in these cases. CONCLUSION: We propose that genetically caused complement disorders should be considered when confronted with severe cases of B. pertussis infection.

Outcome after surgical repair of congenital cardiac malformations at school age.

OBJECTIVES: To explore the long-term physical, educational, behavioural, and emotional outcome of patients undergoing surgical correction of congenital cardiac disease at school age, and to investigate the relation, if any, between the outcome and comorbidity, age and sex, and level of complexity of the cardiac surgery. METHODS: Information was obtained concerning 101 patients who underwent open-heart surgery for correction of congenital cardiac malformations between 1992 and 2000 whilst aged from 6 to 16 years. The patients, and their parents, completed the questionnaire "Outcome of congenital heart disease and surgery", the RAND 36-Item Health Survey, and the Child Behaviour Checklist/Youth Self-Report/Young Adult Self-Report. RESULTS: Of the patients, 26% had comorbidity. Of those without comorbidity, 39% had frequent physical complaints, and 28% experienced limitations due to the cardiac disease. Nevertheless, the patients reported a good subjective state of health, and did not report any behavioural or emotional problems. Patients did show academic difficulties. They had received special education more frequently than their healthy peers, and many had needed to repeat a grade, or had received remedial teaching. Consequently, the educational level of patients was lower than that of their healthy peers. Patients with comorbidity, female patients, and patients who underwent complex surgery, seemed to be most at risk for physical, behavioural, and emotional problems. CONCLUSION: It is necessary to distinguish between physical state and its appraisal, and clinicians should be aware of this. Further research is needed to find out the cause and nature of the academic difficulties. Groups of patients at risk should be followed closely to enable early interventions.