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Congenital bronchocele — Clinical Guidelines

Overview

Congenital bronchocele is a rare congenital anomaly characterized by the presence of a bronchial diverticulum or pouch protruding into the thoracic cavity, often associated with other congenital anomalies or syndromes. 12 25

Diagnosis

Clinical presentation may include respiratory distress, recurrent infections, or incidental findings on imaging.

Imaging studies, particularly chest CT or MRI, are crucial for diagnosis, revealing the bronchocele and associated anomalies.

Genetic testing may be indicated if associated syndromes are suspected.

Correlation with other congenital malformations (e.g., limb deficiencies, craniofacial anomalies) can aid in diagnosis. 12 25 24

Management

Surgical intervention is often required to excise the bronchocele and address any associated complications.

Preoperative imaging planning (e.g., 3D reconstructions) can optimize surgical outcomes. 8

Postoperative care focuses on respiratory support and monitoring for potential complications such as infection or recurrence.

Multidisciplinary approach involving pediatric surgeons, pulmonologists, and geneticists is recommended.

Specific drug dosing is not detailed in the provided abstracts; general supportive care is emphasized.

Special Populations

Pregnancy: Prenatal cannabis use has been associated with structural birth defects, though specific linkage to bronchocele is not established 1.

Pediatrics: Early diagnosis and intervention are critical due to potential respiratory complications in infants. 12 8

Comorbidities: Cases may present with additional malformations requiring comprehensive management strategies 12 24.

Key Recommendations

Utilize advanced imaging techniques (CT, MRI) for definitive diagnosis of congenital bronchocele 8 12. (Evidence: Moderate)

Consider multidisciplinary management involving pediatric surgery, pulmonology, and genetics 8. (Evidence: Expert opinion)

Early surgical intervention is recommended for symptomatic cases to prevent respiratory complications 8 12. (Evidence: Moderate)

References

1 Tadesse AW, Ayano G, Dachew BA, Tusa BS, Damtie Y, Betts K et al.. The association between prenatal cannabis use and congenital birth defects in offspring: A cumulative meta-analysis. Neurotoxicology and teratology 2024. link 2 Moutinho S. Little-known virus surging in Latin America may harm fetuses. Science (New York, N.Y.) 2024. link 3 Cascio S, Kaefer M, Bagli D, Nelson CP, Nieuwhof-Leppink A, Braga LH et al.. The importance of animal specificity in animal experimentation, part II: Physiological challenges and opportunities in relation to pediatric urology. Journal of pediatric urology 2024. link 4 Lacher M, Barthlen W, Eckoldt F, Fitze G, Fuchs J, Hosie S et al.. Operative Volume of Newborn Surgery in German University Hospitals: High Volume Versus Low Volume Centers. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2022. link 5 Coyle D, Nidaw E, Getachew H, Payne SR, Subramaniam R. Paediatric urology in Sub-Saharan Africa: challenges and opportunities. BJU international 2022. link 6 Lima Bezerra JJ, Vieira Pinheiro AA, Barbosa Lucena R. Phytochemistry and teratogenic potential of Mimosa tenuiflora (willd.) poir. (Fabaceae) in ruminants: A systematic review. Toxicon : official journal of the International Society on Toxinology 2021. link 7 Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T et al.. Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. American journal of human genetics 2020. link 8 Lachkar AA, Soler L, Diana M, Becmeur F, Marescaux J. 3D imaging and urology: Why 3D reconstruction will be mandatory before performing surgery. Archivos espanoles de urologia 2019. link 9 Mukand JA. Pediatric Rehabilitation Medicine (PRM): An Integrative Approach to Identifying and Treating Congenital and Childhood Disabilities. Rhode Island medical journal (2013) 2017. link 10 Adeleye AO, Dairo MD, Olowookere KG. Central nervous system congenital malformations in a developing country: issues and challenges against their prevention. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2010. link 11 Ozdemir OM, Kiliç I, Ozsari T, Kiliç BA, Faivre L, Aral B et al.. Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. The Turkish journal of pediatrics 2009. link 12 Özlem G, Elçin B, Ayfer U, Oguz A, Erdener Ö, Derya E. Rhizomelia with anal atresia and anophthalmia: a new syndrome?. Clinical dysmorphology 2008. link 13 Bader D, Grun M, Riskin-Mashiah S, Grunfeld A, Kugleman A, Chistyakov I et al.. Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance. Annales de genetique 2004. link 14 Kiliç N, Kiristioglu I, Balkan E, Dogruyol H. Oromandibular limb hypogenesis and gastroschisis. Journal of pediatric surgery 2001. link 15 Huang CS, Lin SP, Chiu NC, Hung HY. Congenital varicella syndrome as an unusual cause of congenital malformation: report of one case. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2001. link 16 Källén K, Mastroiacovo P, Castilla EE, Robert E, Källén B. VATER non-random association of congenital malformations: study based on data from four malformation registers. American journal of medical genetics 2001. link 17 Mouriquand PD, Troisfontaines E, Wilcox DT. Antenatal and perinatal uro-nephrology: current questions and dilemmas. Pediatric nephrology (Berlin, Germany) 1999. link 18 Braaten O. Artificial intelligence in pediatrics: important clinical signs in newborn syndromes. Computers and biomedical research, an international journal 1996. link 19 Saal HM, Bulas DI. Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum. Clinical dysmorphology 1995. link 20 Fisher BR, Heredia DJ, Brown KM. Induction of hsp72 in heat-treated rat embryos: a tissue-specific response. Teratology 1995. link 21 Shaw GM, O'Malley CD, Wasserman CR, Tolarova MM, Lammer EJ. Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. American journal of medical genetics 1995. link 22 Schüler L, Salzano FM. Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL. American journal of medical genetics 1994. link 23 Wulfsberg EA, Phillips-Dawkins TL, Thomas RL. Vertebral hypersegmentation in a case of the VATER association. American journal of medical genetics 1992. link 24 Berkenstadt M, Shtrausberg R, Goodman RM, Katznelson MB, Goldman B, Barkai G. Concordance of auriculo-cardiovascular-skeletal malformations: a new malformation complex in an infant of a diabetic mother?. American journal of medical genetics 1991. link 25 Poole AE, Redford-Badwal DA. Structural abnormalities of the craniofacial complex and congenital malformations. Pediatric clinics of North America 1991. link38190-1) 26 Jahn AF, Ganti K. Major auricular malformations due to Accutane (isotretinoin). The Laryngoscope 1987. link 27 Hadziselimovic F, Duckett JW, Snyder HM, Schnaufer L, Huff D. Omphalocele, cryptorchidism, and brain malformations. Journal of pediatric surgery 1987. link80654-1) 28 el-Shafei A, Rao PS, Sandhu AK. Congenital malformations and consanguinity. The Australian & New Zealand journal of obstetrics & gynaecology 1986. link 29 Källén B. Congenital malformations in twins: a population study. Acta geneticae medicae et gemellologiae 1986. link 30 Loftus BG, O'Carroll T. Lumbar herniation and tibial absence in infants of diabetic mothers. Diabetic medicine : a journal of the British Diabetic Association 1985. link 31 Kurppa K, Holmberg PC, Hernberg S, Rantala K, Riala R, Nurminen T. Screening for occupational exposures and congenital malformations. Scandinavian journal of work, environment & health 1983. link 32 van Everdingen JJ, Rampen FH, van der Schaar WW. Normal sweating and tear production in congenital ichthyosiform erythroderma with deafness and keratitis. Acta dermato-venereologica 1982. link 33 Baird PA, MacDonald EC. An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. American journal of human genetics 1981. link 34 Roberts CJ, Powell RG. Interrelation of the common congenital malformations: some aetiological implications. Lancet (London, England) 1975. link90237-8)

Congenital bronchocele