Congenital asymptomatic diaphragmatic hernias in adults: a case series

详细信息    查看全文

• 作者：Enrica Bianchi (11)
  Paola Mancini (12)
  Stefania De Vito (13)
  Elena Pompili (13)
  Samanta Taurone (11)
  Isabella Guerrisi (14)
  Antonino Guerrisi (14)
  Vito D’Andrea (15)
  Vito Cantisani (15)
  Marco Artico (11)
  
• 关键词：Congenital diaphragmatic hernia ; CT scan ; Diaphragmatic malformation ; Plain X ; ray films ; Surgery
• 刊名：Journal of Medical Case Reports
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：7
• 期：1
• 全文大小：450KB
• 参考文献：1. Gattot D, Boda C, Ughetto S, Perthus I, Robert-Gnansia E, Francannet C, Laurichesse-Delmas H, Jani J, Coste K, Deprest J, Labbe A, Sapin V, Lemery D: Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry-based study. / Ultrasound Obstet Gynecol 2007, 29:276-83. CrossRef
  2. Torfs CP, Curry CJ, Bateson TF, Honore LH: A population-based study of congenital diaphragmatic hernia. / Teratology 1992, 46:555-65. CrossRef
  3. Yang W, Carmichael SL, Harris JA, Shaw GM: Epidermiologic characteristics of congenital diaphragmatic hernia among 2.5 million California births, 1989-997. / Birth Defects Res A Clin Mol Teratol 2006, 76:170-74. CrossRef
  4. Sinha CK, Islam S, Patel S, Nicolaides K, Greenough A, Devenport M: Congenital diaphragmatic hernia: prognostic indices in the fetal endoluminal tracheal occlusion era. / J Pediatr Surg 2009, 44:312-16. CrossRef
  5. Bronshtein M, Lewit N, Sujov PO, Markoul IR, Blazer S: Prenatal diagnosis of congenital diaphragmatic hernia: timing of visceral herniation and outcome. / Pren Diagn 1995, 15:695-98. CrossRef
  6. Jesudason EC: Challenging embryological theories on congenital diaphragmatic hernia: future therapeutic implications for paediatric surgery. / Ann R Coll Surg Engl 2002, 84:252-59. CrossRef
  7. Berman L, Stringer DA, Ein S, Shandling B: Childhood diaphragmatic hernias presenting after the neonatal period. / Clin Radiol 1988, 39:237-44.
  8. Fotter R, Schimpl G, Sorantin E, Fritz K, Landler U: Delayed presentation of congenital diaphragmatic hernia. / Clin Radiol 1992, 22:187-91.
  9. de Buys Roessingh AS, Dinh-Xuan AT: Congenital diaphragmatic hernia: current status and review of the literature. / Eur J Pediatr 2009, 168:393-06. CrossRef
  10. Keijzer R, Puri P: Congenital diaphragmatic hernia. / Semin Pediatr Surg 2010, 19:180-85. CrossRef
  11. Elhalaby EA, Abo Sikeena MH: Delayed presentation of congenital diaphragmatic hernia. / Pediatr Surg Int 2002, 18:480-85. CrossRef
  12. Numamoglu A, Steiner Z, Millar A, Cywes S: Delayed presentation of congenital diaphragmatic hernia. / S Afr J Surg 1997, 35:74-6.
  13. Stoll C, Alembik Y, Dott B, Roth MP: Associated malformations in cases with congenital diaphragmatic hernia. / Genet Couns 2008, 19:331-39.
  14. Sweed Y, Puri P: Congenital diaphragmatic hernia: influence of associated malformations on survival. / Arch Dis Child 1993, 69:68-0. CrossRef
  15. Lin ST, Moss DM, Henderson SO: A case of Morgagni hernia presenting as pneumonia. / J Em Med 1997, 15:297-01. CrossRef
  16. Gayer G, Bilik R, Vardi A: CT diagnosis of delayed presentation of congenital diaphragmatic hernia simulating massive pleuropneumonia. / Eur Radiol 1999, 9:1672-674. CrossRef
  17. Nakayama DK, Harrison MR, Chrinn DH, Callen PW, Filly RA, Golbus MS, De Lorimier AA: Prenatal diagnosis and natural history of the fetus with a congenital diaphragmatic hernia: initial clinical experience. / J Pediatr Surg 1985, 20:118-24. CrossRef
  18. Adzick NS, Vacanti JP, Lillehei CW, O’Rourke PP, Crone RK, Wilson JM: Fetal diaphragmatic hernia: ultrasound diagnosis and clinical outcome in 38 cases. / J Pediatr Surg 1989, 24:654-57. CrossRef
  19. Knox E, Lissauer D, Khan K, Kilby M: Prenatal detection of pulmonary hypoplasia in fetuses with congenital diaphragmatic hernia: a systematic review and meta-analysis of diagnostic studies. / J Matern Fetal Neonatal Med 2010, 23:579-88. CrossRef
  20. Sandaite I, Claus F, De Keyzer F, Done E, Van Mieghem T, Guacciardo L, Dekoninck P, Jani J, Cannie M, Deprest JA: Examining the relationship between the lung-to-head ratio measured on ultrasound and lung volumetry by magnetic resonance in fetuses with isolated congenital diaphragmatic hernia. / Fetal Diagn Ther 2011, 29:80-7. CrossRef
  21. Harrison MR, Sydorak RM, Farrell JA, Kitterman JA, Filly RA, Albanese CT: Fetoscopic temporary tracheal occlusion for congenital diaphragmatic hernia: prelude to a randomized, controlled trial. / J Pediatr Surg 2003, 38:1012-020. CrossRef
  22. Jani J, Peralta CF, Van Schoubroeck D, Deprest J, Nicolaides KH: Relationship between lung-to-head ratio and lung volume in normal fetuses and fetuses with diaphragmatic hernia. / Ultrasound Obstet Gynecol 2006, 27:545-50. CrossRef
  23. Usui N, Okuyama H, Sawai T, Kamata S, Fukuzawa M: Relatioship between L/T ratio and LHR in the prenatal assessment of pulmonary hypoplasia in congenital diaphragmatic hernia. / Pediatr Surg Int 2007, 23:971-76. CrossRef
  24. Jani JC, Benachi A, Nicolaides KH, Allegaert K, Graracos E, Mazkereth R, Matis J, Tibboel D, Van Heijst A, Storme L, Rousseau V, Greenough A, Deprest JA: Prenatal prediction of neonatal morbidity in survivors with congenital diaphragmatic hernia: a multicenter study. / Ultrasound Obstet Gynecol 2009, 33:64-9. CrossRef
  25. Metkus AP, Filly RA, Stringer MD, Harrison MR, Adzick NS: Sonographic predictors of survival in fetal diaphragmatic hernia. / J Pediatr Surg 1996, 31:148-51. CrossRef
  26. Lipshutz GS, Albanese CT, Feldstein VA, Jennings RW, Housley HT, Beech R, Farrell JA, Harrison MR: Prospective analysis of lung-to-head ratio predicts survival for patients with prenatally diagnosed congenital diaphragmatic hernia. / J Pediatr Surg 1997, 32:1634-636. CrossRef
  27. Takahashi H, Hayashi S, Miura Y, Tsukamoto K, Kosaki R, Itoh Y, Sago H: Trisomy 9 mosaicism diagnosed in utero. / Obstet Gynecol Int 2010. pii:379534
  28. Moya FR, Thomas VL, Romaguera J, Mysore MR, Maberry M, Bernard A, Freund M: Fetal lung maturation in congenital diaphragmatic hernia. / Am J Obstet Gynecol 1995, 173:1401-405. CrossRef
  29. Tovar JA: Congenital diaphragmatic hernia. / Orphanet J Rare Dis 2012, 7:1-5. CrossRef
  30. Stege G, Fenton A, Jaffray B: Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia. / Pediatrics 2003, 112:532-35. CrossRef
  31. Garne E, Haeusler M, Barisic I, Gjergja R, Stoll C, Clementi M: Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions. / Ultrasound Obstet Gynecol 2002, 19:329-33. CrossRef
  32. Colvin J, Bower C, Dickinson JE, Sokol J: Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. / Pediatrics 2005, 116:e356-e363. CrossRef
  33. Richmond S, Atkins J: A population-based study of the prenatal diagnosis of congenital malformation over 16 years. / BJOG 2005, 112:1349-357. CrossRef
  34. Deprest JA, Lerut TE, Vandenberghe K: Operative fetoscopy: new perspective in fetal therapy? / Prenat Diagn 1997, 17:1247-260. CrossRef
  35. Valls-i-Soler A, Alfonso LF, Arnaiz A, Alvarez FJ, Tovar JA: Pulmonary surfactant dysfunction in congenital diaphragmatic hernia: experimental and clinical findings. / Biol Neonate 1996, 69:318-26. CrossRef
  36. Lally KP, Bagolan P, Hosie S, Lally PA, Stewart M, Cotten CM, Van Meurs KP, Alexander G: Corticosteroids for fetuses with congenital diaphragmatic hernia: can we show benefit? / J Pediatr Surg 2006, 41:668-74. CrossRef
  37. Keijzer R, van Tuyl M, Tibboel D: Hormonal modulation of fetal pulmonary development: relevance for the fetus with diaphragmatic hernia. / Eur J Obstet Gynecol Reprod Biol 2000, 92:127-33. CrossRef
  38. Stevens TP, van Wijngaarden E, Ackerman KG, Lally PA, Lally KP: Timing of delivery and survival rates for infants with prenatal diagnoses of congenital diaphragmatic hernia. / Pediatrics 2009, 123:494-02. CrossRef
  39. Bartlett RH, Gazzaniga AB, Toomasian J, Coran AG, Roloff D, Rucker R: Extracorporeal membrane oxygenation (ECMO) in neonatal respiratory failure. 100 cases. / Ann Surg 1986, 204:236-45. CrossRef
  40. Clark RH, Hardin WD Jr, Hirschl RB, Jaksic T, Lally KP, Langham MR Jr, Wilson JM: Current surgical management of congenital diaphragmatic hernia: a report from the congenital diaphragmatic hernia study group. / J Pediatr Surg 1998, 33:1004-009. CrossRef
  41. Wung JT, Sahni R, Moffitt ST, Lipsitz E, Stolar CJ: Congenital diaphragmatic hernia: survival treated with very delayed surgery, spontaneous respiration, and no chest tube. / J Pediatr Surg 1995, 30:406-09. CrossRef
  42. Fei L, Saviano C, Moccia F, del Genio G, Trapani V, Nunziale A, Lombardi G, Cecchi M: ePTFE soft tissue patch reconstruction of hemidiaphragmatic agenesis with late clinical presentation. / Hernia 2008, 12:103-06. CrossRef
  43. Loff S, Wirth H, Jester I, Hosie S, Wollmann C, Schaible T, Ataman O, Waag KL: Implantation of a cone-shaped double-fixed patch increases abdominal space and prevents recurrence of large defects in congenital diaphragmatic hernia. / J Pediatr Surg 2005, 40:1701-705. CrossRef
  44. Atkinson JB, Poon MW: ECMO and the management of congenital diaphragmatic hernia with large diaphragmatic defects requiring a prosthetic patch. / J Pediatr Surg 1992, 27:754-56. CrossRef
  45. Lally KP, Lally PA, Lasky RE, Tibboel D, Jaksic T, Wilson JM, Frenckner B, Van Meurs KP, Bohn DJ, Davis CF, Hirschl RB: Defect size determines survival in infants with congenital diaphragmatic hernia. / Pediatrics 2007, 120:e651-e657. CrossRef
  46. Nasr A, Struijs MC, Ein SH, Langer JC, Chiu PP: Outcomes after muscle flap vs prosthetic patch repair for large congenital diaphragmatic hernias. / J Pediatr Surg 2010, 45:151-54. CrossRef
  47. Nguyen TL, Le AD: Thoracoscopic repair for congenital diaphragmatic hernia: lessons from 45 cases. / J Pediatr Surg 2006, 41:1713-715. CrossRef
  48. Meehan JJ, Sandler A: Robotic repair of a Bochdalek congenital diaphragmatic hernia in a small neonate: robotic advantages and limitations. / J Pediatr Surg 2007, 42:1757-760. CrossRef
  49. Nitecki S, Bar-Maor JA: Late presentation of Bochdalek hernia: our experience and review of the literature. / Isr J Med Sci 1992, 28:711-14.
  50. Sridhar AV, Nichani S: Late presenting congenital diaphragmatic hernia. / Emerg Med J 2004, 21:261-62. CrossRef
  51. Wilbur AC, Gorodetsky A, Hibbeln JF: Imaging findings of adult Bochdalek hernias. / Clin Imaging 1994, 18:224-29. CrossRef
  52. Laaksonen E, Silvasti S, Hakala T: Right-sided Bochdalek hernia in an adult: a case report. / J Med Case Reports 2009, 3:9291. CrossRef
  53. Baerg J, Kanthimathinathan V, Gollin G: Late-presenting congenital diaphragmatic hernia: diagnostic pitfalls and outcome. / Hernia 2012, 16:461-66. CrossRef
  
• 作者单位：Enrica Bianchi (11)
  Paola Mancini (12)
  Stefania De Vito (13)
  Elena Pompili (13)
  Samanta Taurone (11)
  Isabella Guerrisi (14)
  Antonino Guerrisi (14)
  Vito D’Andrea (15)
  Vito Cantisani (15)
  Marco Artico (11)
  
  11. Department of Sensory Organs, University ‘Sapienza- Rome, Italy
  12. Department of Radiology, ‘S. Giovanni Calibita-Isola Tiberina, Fatebenefratelli Hospital, Rome, Italy
  13. Department of Anatomical, Histological, Forensic and Locomotor System Sciences, V. A. Borelli 50, Rome, 00161, Italy
  14. Department of Radiological Sciences, University of Rome Sapienza, Rome, 00159, Italy
  15. Department of Radiology, Oncology and Pathology, University ‘La Sapienza- Policlinico Umberto I, Rome, Italy
  

文摘

Introduction Congenital diaphragmatic hernia is a major malformation occasionally found in newborns and babies. Congenital diaphragmatic hernia is defined by the presence of an orifice in the diaphragm, more often to the left and posterolateral, that permits the herniation of abdominal contents into the thorax. The aim of this case series is to provide information on the presentation, diagnosis and outcome of three patients with late-presenting congenital diaphragmatic hernias. The diagnosis of congenital diaphragmatic hernia is based on clinical investigation and is confirmed by plain X-ray films and computed tomography scans. Case presentations In the present report three cases of asymptomatic abdominal viscera herniation within the thorax are described. The first case concerns herniation of some loops of the large intestine into the left hemi-thorax in a 75-year-old Caucasian Italian woman. The second case concerns a rare type of herniation in the right side of the thorax of the right kidney with a part of the liver parenchyma in a 57-year-old Caucasian Italian woman. The third case concerns herniation of the stomach and bowel into the left side of the chest with compression of the left lung in a 32-year-old Caucasian Italian man. This type of hernia may appear later in life, because of concomitant respiratory or gastrointestinal disease, or it may be an incidental finding in asymptomatic adults, such as in the three cases featured here. Conclusions Patients who present with late diaphragmatic hernias complain of a wide variety of symptoms, and diagnosis may be difficult. Additional investigation and research appear necessary to better explain the development and progression of this type of disease.