Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.

INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) is a rare lifelong disorder characterized by an abnormal ventilatory response with persistent hypercapnia and hypoxia, which worsen during sleep. About 90 % of CCHS individuals are heterozygous for a mutation in the exon 3 of the PHOX2B gene. With higher awareness and better diagnostic tools, cases are identified in late childhood and adulthood, often with distinct mutations. CLINICAL CASE: The authors present a 4-year-old girl admitted to the intensive care unit at 9, 11 and 13 months suffering from severe hypercapnic respiratory failure during viral respiratory infections. Hypercapnia during sleep improved with wakefulness. CCHS was confirmed genetically (heterozygous insertion of an adenine at position 23, leading to a premature stop codon in exon 1 of the PHOX2B gene). The parents' DNA showed no PHOX2B mutations. Hypoventilation was observed by polysomnography, with no autonomic response to declining oxygen or increasing carbon dioxide values. A subsequent sleep study showed less hypoxia and hypercapnia. The patient has been on non-invasive ventilation during sleep, showing good growth and neurocognitive development. DISCUSSION: A greater awareness is required to diagnose late-onset CCHS. A respiratory infection can trigger the disease, with a significant difference in CO2 between sleep and wakefulness as the warning signal. Given the clinical suspicion, a genetic study should be performed. Polysomnography is essential for patient characterization. Follow-up and ventilator support adjustment prevent serious hypoxia and hypercapnia, which impair cardiovascular and neurocognitive functions. This patient's mutation has not been previously described; hence, clinical evolution cannot be predicted.

WITHDRAWN: Long-term ventilation in children: Ten years later.

This article has been withdrawn for editorial reasons because the journal will be published only in English. In order to avoid duplicated records, this article can be found at http://dx.doi.org/10.1016/j.rppnen.2014.03.017. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.

Foreign bodies in the airway: a quarter of a century's experience.

INTRODUCTION: Foreign body (FB) aspiration in children is a common and potentially dangerous situation that can be associated to significant morbidity. AIMS: To characterise the FB aspiration in children cases at the Hospital Pediátrico de Coimbra over a twenty five year period. STUDY DESIGN: This study was based on the retrospective analysis of all clinical files of children who were diagnosed with foreign body aspiration January 1982 to December 2006. RESULTS: Foreign body aspiration was confirmed in 316 children. The incidence was higher during the first twelve years of the study (64%). Around two thirds of the children were male (206) and the sample was aged 6 months to 12 years. Most children were younger than 3 years old (83%). In 88% of cases a choking episode was noticed while an early diagnosis (<24h) was obtained in only 39%. The most frequently described signs and symptoms were unilateral diminished breath sounds and cough. In 7% of cases no symptoms were described. The most frequently recorded radiology finding was focal hyperinflation (42%) and in 22% the chest x-ray was unremarkable. Treatment was exclusively by rigid bronchoscopy. Complications related to the bronchoscopy removal were described in 22 cases. Most aspirated FB were of vegetable origin (75%). The majority of FB was lodged in the right bronchial tree. Postremoval flexible bronchoscopy was performed in 116 cases. CONCLUSION: An unnoticed FB aspiration and absence of and/or non-specific initial symptoms may contribute to a late diagnosis. The significant reduction in the number of cases over the later years may be related to the implementation of preventive strategies.