European journal of pediatrics
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Case Reports
Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress.
A boy without symptoms up to 12 months of age started with persisting cough followed by respiratory failure at 18 months of age, resulting in mechanical ventilation because of alveolar proteinosis. Lung biopsy showed PAS-positive material. PCR was negative for CMV, Pneumocystis jiroveci and adenovirus. ⋯ Analysis of the ATP-binding cassette transporter A3 (ABCA3; OMIM 601615) gene showed a compound heterozygous mutation from paternal W1148X and maternal T1114A. Alveolar lavage with 720 mg of bovine surfactant allowed weaning from ventilator support. Heterozygous mutation in the ABCA3 gene could be associated with a milder evolution as compared to the homozygous frequently lethal evolution.
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Airway clearance techniques are an important part of the respiratory management in children with cystic fibrosis, bronchiectasis and neuromuscular disease. They are also, however, frequently prescribed in previously healthy children with an acute respiratory problem with the aim to speed up recovery. The current review explores the evidence behind this use of airway clearance techniques in children without underlying disease. ⋯ It is necessary to name the specific airway clearance technique used in treatment rather than to just state "chest physiotherapy," a term that is often confused with chest clapping or vibration plus postural drainage. There is little evidence that airway clearance techniques play a role in the management of children with an acute respiratory problem. Physicians routinely prescribing airway clearance techniques in previously healthy children should question their practice.
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We report on a 10-year-old girl who was presented to the Emergency Department with a 3-day history of "vaginal bleeding", the cause of which was determined to be urethral prolapse. Urethral prolapse occurs when the urethra mucosa evaginates beyond the urethral meatus. This uncommon condition in prepubescent girls should not be confused with other causes of peri-vaginal bleeding, the most importantly being sexual abuse.
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Comparative Study
Pneumomediastinum in the neonatal and paediatric intensive care unit.
The incidence, aetiology and pathophysiology of pneumomediastinum (PM), an uncommon and potentially serious disease in neonates and children, were evaluated. A retrospective chart review of all patients diagnosed with PM who were hospitalised in the intensive care unit of the University Children's Hospital Zürich, Switzerland, from 2000 to 2006, was preformed. We analysed the incidence, severity and causes of PM and investigated the possible differences between neonatal and non-neonatal cases. ⋯ Mostly, it is associated with extrapulmonary air at other sites. It is diagnosed by chest X-ray alone. We identified mechanical events leading to the airway rupture in most children >4 weeks of life, whereas we were unable to identify a cause in half of the neonates studied (idiopathic PM).
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Meningeal tumors are extremely rare in children and are diagnostically as well as therapeutically challenging. Among the least common types of malignancies in childhood is malignant melanoma, counting for less than 1% of pediatric tumors. Due to the rarity and the wide spectrum of appearance, initial clinical features may be misleading. ⋯ We hypothesize that central lactate production of the tumor nests might have induced central acidification, thus inducing hyperventilation by stimulation of central chemoreceptors. This case is a model example of the key role of central pH as an inducer/suppressor of ventilation in humans and illustrates the critical importance of central pH for regulating both ventilation and acid-base homeostasis. Thus, pH of CSF should be measured whenever a malignant brain tumor is suspected.