Background: Recurrent respiratory papillomatosis in children is an uncommon but potentially life-threatening benign tumor of the respiratory tract with laryngeal predilection. The diagnosis of recurrent respiratory papillomatosis may be challenging unless there is a high index of suspicion and awareness of the variable presentations.
Methods: We reviewed the medical charts of children with recurrent respiratory papillomatosis treated at a tertiary children's hospital. The presentation of recurrent respiratory papillomatosis is illustrated by a series of case reports. We provide a paradigm to assist in the early diagnosis of children with recurrent respiratory papillomatosis.
Results: Five patients, aged 2 to 6 years, were erroneously diagnosed with recurrent croup, asthma, laryngeal hemangioma, and tracheomalacia after presenting with variable degrees of chronic dyspnea, cough, stridor, dysphonia, weak cry, and syncope. Once the diagnosis of recurrent respiratory papillomatosis was made, recurring surgical ablation of papillomata was initiated.
Conclusions: Any child presenting with a voice disturbance with or without stridor is recommended to have diagnostic flexible fiber-optic laryngoscopy. Recurrent respiratory papillomatosis should be considered in children when other common pediatric airway diseases either do not follow the natural history or do not respond to treatment of the common disorder.
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http://dx.doi.org/10.1542/peds.2006-1555 | DOI Listing |
Eur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
View Article and Find Full Text PDFThe bronchopleural fistula (BPF) is a pathological passageway between the bronchus and the pleural cavity. Diagnosing and localising BPF can be challenging, and the traditional retrograde methylene blue (MB) perfusion method may fail to identify multifocal BPFs. This article reports a novel method for locating multifocal BPFs in patients undergoing concurrent empyema debridement.
View Article and Find Full Text PDFJ Med Genet
January 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.
View Article and Find Full Text PDFPathophysiology
January 2025
Division of Anatomical Pathology, Department of Pathology, College of Medicine, University of Saskatchewan, Royal University Hospital, 103 Hospital Drive, Saskatoon, SK S7N 0W8, Canada.
: Cause of death analysis is fundamental to forensic pathology. We present the case of a 9½-year-old girl with a genetically confirmed diagnosis of Dravet syndrome who died in her sleep with no evidence of motor seizure. She also had a lifelong history of recurrent pneumonias and, along with her family, had tested positive for COVID-19 10 days before death.
View Article and Find Full Text PDFFetal Pediatr Pathol
January 2025
Lauren V. Ackerman Laboratory of Surgical Pathology, Department of Pathology and Immunology, St. Louis, MO, USA.
, a gram-negative bacillus, has varied clinical manifestations with septicemia as the most lethal. PA infection is usually regarded as opportunistic and often nosocomial. We present a case of a "healthy" pediatric patient presenting with upper respiratory symptoms who rapidly deteriorated.
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