Background: Intercostal lung herniation is a rare condition that may be congenital (20%) or acquired (80%). The isolated congenital form is exceptional, with one case reported in the literature.
Case Presentation: We report a case of a 10-year-old French boy of Algeria origin, born with intermittent swelling of his right hemithorax. The swelling and pain gradually increased with age. A clinical examination revealed a localized swelling of his right hemithorax at the level of the midclavicular line and the fifth intercostal space. The swelling increased in size during respiratory movements and enlarged with Valsalva maneuvers. The intercostal lung hernia was treated by thoracoscopy.
Conclusions: This is the second case of isolated congenital intercostal pulmonary hernia reported in the French and English literature. It is the first to be treated by thoracoscopy. Based on this case we performed a review of the diagnosis and therapeutic aspect of pulmonary hernias.
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http://dx.doi.org/10.1186/s13256-019-2142-4 | DOI Listing |
Vision (Basel)
January 2025
Sztárai Institute, University of Tokaj, 3950 Sárospatak, Hungary.
Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights key systemic syndromes linked with RP, such as Usher, Bardet-Biedl, and Alström syndromes, focusing on genetic mutations, inheritance, and clinical symptoms.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
January 2025
Department of Cardiology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Key Laboratory of Children's Important Organ Development and Diseases of Chongqing Municipal Health Commission, National Clinical Key Cardiovascular Specialty, Chongqing400014, China.
To investigate the disease burden, clinical characteristics and independent risk factors affecting in-hospital outcomes of children with congenital heart disease (CHD) combined with heart failure (HF) in China. (1) Descriptive study: based on the global burden of disease study 2021, available data on children under 15 years of age with CHD and HF in China from 1990 to 2021 were collected. The prevalence and trends in different age subgroups (<1 year, 1-<2 years, 2-<5 years, 5-<10 years, 10-<15 years) were analyzed, and the annual percentage change (EAPC) was estimated using linear regression.
View Article and Find Full Text PDFPediatr Res
January 2025
Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Background: To retrospectively investigate the developmental outcomes at 3 years of age in patients with congenital diaphragmatic hernia (CDH) using a multicenter collaborative research approach.
Methods: We evaluated patients with CDH and no other malformations born between 2010 and 2016 in seven facilities in the Japanese CDH Research Group. The developmental quotient (DQ) at 3 years of age was evaluated using the Kyoto Scale of Psychological Development 2001, the most standardized scale in Japan.
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