Surfactant protein B encoding gene mutations have been related to early onset fatal respiratory distress in full-term neonates. We report a school-aged male child homozygous for a surfactant protein B encoding gene missense mutation who presented after the neonatal period. His respiratory insufficiency responded to high dose intravenous methylprednisolone and hydroxychloroquine.
View Article and Find Full Text PDFPaediatricians are in an excellent position to identify children with environmental risk, to advise their parents about the best way of reducing or preventing such risks, and to recommend actions to the responsible politicians involved. Paediatric environmental health speciality units (PEHSU) can help to qualify and support paediatricians in this task. PEHSU is defined as a unit within a paediatric hospital or clinic that is able to recognize, assess, and prevent environment-related health risks, to help other paediatric specialists in the management of such diseases in children, as well as to provide education, training, and research, putting emphasis on thorough and adequate establishment of paediatric environmental histories (PEHis) and to the application of the precautionary principle.
View Article and Find Full Text PDFSymptomatic pulmonary manifestations of Kawasaki disease (KD) are uncommon. However, epidemiologic, radiologic, and histologic studies have indicated that respiratory symptoms and findings occur in KD and suggest that the KD agent may have a respiratory portal of entry. We report on three young infants with KD who developed pulmonary nodules, in addition to coronary artery aneurysms.
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