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Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia
G Model
JOGOH-1471; No. of Pages 3 J Gynecol Obstet Hum Reprod xxx (2018) xxx–xxx
Available online at
ScienceDirect www.sciencedirect.com
Case Report
Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia Cle´ment Bruhat a, Thierry Briac b, Ame´lie Delabaere a,c, Andre´ Labbe´ a, Didier Le´mery a, He´le`ne Laurichesse-Delmas a, Denis Gallot a,c,* a b c
Poˆle Femme Et Enfant, CHU Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand Cedex 1, France Oto-Rhino-Laryngologie, Necker-Enfants Malades, Assistance Publique-Hopitaux de Paris, 149, rue de Se`vres, 75743 Paris, France Equipe ‘‘Translational approach to epithelial injury and repair’’, Universite´ Clermont-Auvergne, CNRS, Inserm, GReD, 63000 Clermont-Ferrand, France
A R T I C L E I N F O
A B S T R A C T
Article history: Received 18 August 2018 Received in revised form 8 September 2018 Accepted 13 September 2018 Available online xxx
A laryngotracheoesophageal cleft, commonly called laryngeal cleft (LC), is a congenital malformation of the posterior part of the larynx creating an abnormal communication between the laryngotracheal axis and the pharyngoesophageal axis. The prenatal ultrasonographic features associating absent stomach, polyhydramnios and mediastinal ‘‘pouch sign’’ are usually considered pathognomonic for esophageal atresia. This observation demonstrates that they can also correspond to a severe form of laryngotracheoesophageal cleft extending to the carina.
C 2018 Published by Elsevier Masson SAS.
Keywords: Laryngotracheoesophageal cleft Esophageal atresia Prenatal diagnosis Pouch sign Polyhydramnios
1. Introduction A laryngotracheoesophageal cleft, commonly called laryngeal cleft (LC), is a congenital malformation of the posterior part of the larynx possibly extended to the trachea, creating an abnormal communication between the laryngotracheal axis and the pharyngoesophageal axis [1]. The Benjamin and Inglis classification system described 4 types of laryngeal clefts in 1989 (Fig. 1) [2]. Patients with LC may present with airway and swallowing impairments that can lead to respiratory distress, recurrent aspiration pneumonia, or failure to thrive [3]. It has been suggested that a premature arrest in development of the tracheoesophageal septum, and the lack of fusion of the two lateral parts of the developing cricoid cartilage could be responsible for LC [4]. The incidence ranges from 1 in 10,000 to 1 in 20,000 live births [3]. Most cases are sporadic while others are associated with congenital anomalies such as tracheoesophageal fistulas or syndromes such as Opitz-Frias or Pallister-Hall [5]. Many classifications have been proposed based on the downward extension of
* Corresponding author at: Poˆle Femme Et Enfant, CHU Estaing, 1, place Lucie-etRaymond-Aubrac, 63003 Clermont-Ferrand Cedex 1, France. E-mail address: [email protected] (D. Gallot).
the cleft. The type IV of the Benjamin and Inglis classification corresponds to a cleft extending into the thoracic trachea, potentially down to the carina [2]. We report a case of type IV LC misdiagnosed as esophageal atresia (EA) prenatally. 2. Case description A 39-year-old patient, gravida 2 parity 1, was referred at 34+6 weeks of gestation (WG) for polyhydramnios. Ultrasound examination confirmed amniotic fluid index at 25 cm, and revealed absent stomach and a mediastinal ‘‘pouch sign’’ (Fig. 2). An EA was suspected. Amniocentesis was performed and obtained normal karyotype and normal CGH array. The patient underwent two amniodrainages at 34+6 and 38+0 WG. She was then admitted at 38+5 WG for labor induction. She delivered a girl by cesarean section for abnormal cardiac fetal heart rate, weighting 2565 g (8th percentile), Apgar 1/4/6 at 1/5/10 min, umbilical artery pH 7.21. In the absence of spontaneous ventilation, the child was ventilated by Continuous Positive Airway Pressure and transferred to the neonatal intensive care unit at 20 min of life. Important secretions of the upper airways suggested the existence of an esotracheal fistula. A tracheoscopy was performed at one day of life demonstrating a complete
https://doi.org/10.1016/j.jogoh.2018.09.003 C 2018 Published by Elsevier Masson SAS. 2468-7847/
Please cite this article in press as: Bruhat C, et al. Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia. J Gynecol Obstet Hum Reprod (2018), https://doi.org/10.1016/j.jogoh.2018.09.003
G Model
JOGOH-1471; No. of Pages 3 C. Bruhat et al. / J Gynecol Obstet Hum Reprod xxx (2018) xxx–xxx
2
Fig. 1. Benjamin and Inglis classification system. Type I: interarytenoid defect to the level of the true vocal folds. Type II: partial extension of the defect through the posterior cricoid cartilage. Type III: extension of the defect completely through the posterior cricoid cartilage and possible extension into the cervical trachea. Type IV: extension of the defect into the intrathoracic trachea with possible extension down to the carina.
communication between the trachea and the esophagus (Fig. 3). The cleft went down to the carina. At day 4 of life, the patient was transferred to another institution to undergo surgical repair by sternotomy under use of a heart-lung bypass machine. A second procedure was required six months later due to partial dehiscence at the suture site and a Nissen procedure was performed at the age of one year. Oral feeding remained impossible at the age of 22 months. 3. Discussion Prenatal sonographic detection of EA relies on the presence of a small or non-visualized fetal stomach bubble associated with
polyhydramnios and by the direct visualization of the fluid-filled, blind-ending esophagus during fetal swallowing called ‘‘pouch sign’’ [6,7]. Although only less than half of fetuses with EA display this distinct finding, its presence was considered virtually pathognomonic for the condition [6]. Solt et al. described false positive cases in six fetuses with polyhydramnios, small or absent stomach and upper neck pouch sign between 18 and 29 WG. Normal esophagus was present at birth but polyhydramnios always had resolved during pregnancy and stomach was finally found to be normal in size and shape [8]. Our case illustrates that typical sonographic features of EA can also correspond to LC especially severe forms. We hypothesize that abnormal communication between esophagus and trachea makes peristalsis inefficient for adequate progression of swallowed fluid till stomach. Therefore stomach remains flat and persistence of fluid in the enlarged esophagus mimics the classical ‘‘pouch sign’’. According to Langer et al., the criterion for EA in T2-weighted MRI is a non-visualization of the intrathoracic portion of the esophagus [9]. More recently, MRI was considered useful for the diagnosis of EA through the visualization of the oesophageal pouch or through associated signs such as tracheal bowing [10]. We did not perform MRI and it is not clear if it could help to distinguish interrupted esophagus and LC. Czerkiewicz et al. described a biochemical amniotic fluid index corresponding to the multiplication of alpha-fetoprotein by gamma-glutamyl transpeptidase, both expressed in multiple of median. Using a cutoff of 3, they observed 98% sensitivity and 100% specificity for prenatal diagnosis of EA [11]. Another study only observed a 89% sensitivity and 60% specificity for the biochemical index and considered that MRI was the best predictive test [12]. We did not measure this index but its ability to distinguish EA from LC remains questionable. In conclusion, the prenatal association of absent stomach, polyhydramnios and mediastinal ‘‘pouch sign’’ is not pathognomonic for EA and can also correspond to severe form of LC. It could be warranted to offer MRI and biochemical amniotic fluid index in all cases of suspected EA.
Fig. 2. Para-sagittal ultrasonographic view of the fetal thorax at 34+6 weeks of gestation (arrow shows ‘‘pouch’’ sign).
Please cite this article in press as: Bruhat C, et al. Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia. J Gynecol Obstet Hum Reprod (2018), https://doi.org/10.1016/j.jogoh.2018.09.003
G Model
JOGOH-1471; No. of Pages 3 C. Bruhat et al. / J Gynecol Obstet Hum Reprod xxx (2018) xxx–xxx
3
References
Fig. 3. Endoscopic view of laryngotracheooesophageal cleft with the two primary bronchi (*) and the lower part of the cleft (#).
Disclosure of interest This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
[1] Leboulanger N, Garabedian E. Laryngo-tracheo-oesophageal clefts. Orphanet J Rare Dis 2011;6:81. [2] Benjamin B, Inglis A. Minor congenital laryngeal clefts: diagnosis and classification. Ann Otol Rhinol Laryngol 1989;98:417–20. [3] Strychowsky J, Rahbar R. Laryngotracheoesophageal clefts. Semin Pediatr Surg 2016;25:128–31. [4] Blumberg J, Stevenson J, Lemire R, Boyden E. Laryngotracheoesophageal cleft, the embryologic implications: review of the literature. Surgery 1965;57:559–66. [5] Fraga J, Adil E, Kacprowicz A, Skinner M, Jennings R, Lillehei C, et al. The association between laryngeal cleft and tracheoesophageal fistula: myth or reality? Laryngoscope 2015;125:469–74. [6] Brantberg A, Blaas H, Haugen S, Eik-Nes S. Esophageal obstruction-prenatal detection rate and outcome. Ultrasound Obstet Gynecol 2007;30:180–7. [7] Centini G, Rosignoli L, Kenanidis A, Petraglia F. Prenatal diagnosis of esophageal atresia with the pouch sign. Ultrasound Obstet Gynecol 2003;21:494–7. [8] Solt I, Rotmensch S, Bronshtein M. The esophageal ‘‘pouch sign’’: a benign transient finding. Prenat Diagn 2010;30:845–8. [9] Langer J, Hussain H, Khan A, Minkes R, Gray D, Siegel M, et al. Prenatal diagnosis of esophageal atresia using sonography and magnetic resonance imaging. J Pediatr Surg 2001;36:804–7. [10] Hochart V, Verpillat P, Langlois C, Garabedian C, Bigot J, Houfflin-Debarge V, et al. The contribution of fetal MR imaging to the assessment of oesophageal atresia. Eur Radiol 2015;25:306–14. [11] Czerkiewicz I, Dreux S, Beckmezian A, Benachi A, Salomon L, Schmitz T, et al. Biochemical amniotic fluid pattern for prenatal diagnosis of esophageal atresia. Pediatr Res 2011;70:199–202. [12] Garabedian C, Verpillat P, Czerkiewicz I, Langlois C, Muller F, Avni F, et al. Does a combination of ultrasound, MRI, and biochemical amniotic fluid analysis improve prenatal diagnosis of esophageal atresia? Prenat Diagn 2014;34:839– 42.
Please cite this article in press as: Bruhat C, et al. Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia. J Gynecol Obstet Hum Reprod (2018), https://doi.org/10.1016/j.jogoh.2018.09.003
JOGOH-1471; No. of Pages 3 J Gynecol Obstet Hum Reprod xxx (2018) xxx–xxx
Available online at
ScienceDirect www.sciencedirect.com
Case Report
Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia Cle´ment Bruhat a, Thierry Briac b, Ame´lie Delabaere a,c, Andre´ Labbe´ a, Didier Le´mery a, He´le`ne Laurichesse-Delmas a, Denis Gallot a,c,* a b c
Poˆle Femme Et Enfant, CHU Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand Cedex 1, France Oto-Rhino-Laryngologie, Necker-Enfants Malades, Assistance Publique-Hopitaux de Paris, 149, rue de Se`vres, 75743 Paris, France Equipe ‘‘Translational approach to epithelial injury and repair’’, Universite´ Clermont-Auvergne, CNRS, Inserm, GReD, 63000 Clermont-Ferrand, France
A R T I C L E I N F O
A B S T R A C T
Article history: Received 18 August 2018 Received in revised form 8 September 2018 Accepted 13 September 2018 Available online xxx
A laryngotracheoesophageal cleft, commonly called laryngeal cleft (LC), is a congenital malformation of the posterior part of the larynx creating an abnormal communication between the laryngotracheal axis and the pharyngoesophageal axis. The prenatal ultrasonographic features associating absent stomach, polyhydramnios and mediastinal ‘‘pouch sign’’ are usually considered pathognomonic for esophageal atresia. This observation demonstrates that they can also correspond to a severe form of laryngotracheoesophageal cleft extending to the carina.
C 2018 Published by Elsevier Masson SAS.
Keywords: Laryngotracheoesophageal cleft Esophageal atresia Prenatal diagnosis Pouch sign Polyhydramnios
1. Introduction A laryngotracheoesophageal cleft, commonly called laryngeal cleft (LC), is a congenital malformation of the posterior part of the larynx possibly extended to the trachea, creating an abnormal communication between the laryngotracheal axis and the pharyngoesophageal axis [1]. The Benjamin and Inglis classification system described 4 types of laryngeal clefts in 1989 (Fig. 1) [2]. Patients with LC may present with airway and swallowing impairments that can lead to respiratory distress, recurrent aspiration pneumonia, or failure to thrive [3]. It has been suggested that a premature arrest in development of the tracheoesophageal septum, and the lack of fusion of the two lateral parts of the developing cricoid cartilage could be responsible for LC [4]. The incidence ranges from 1 in 10,000 to 1 in 20,000 live births [3]. Most cases are sporadic while others are associated with congenital anomalies such as tracheoesophageal fistulas or syndromes such as Opitz-Frias or Pallister-Hall [5]. Many classifications have been proposed based on the downward extension of
* Corresponding author at: Poˆle Femme Et Enfant, CHU Estaing, 1, place Lucie-etRaymond-Aubrac, 63003 Clermont-Ferrand Cedex 1, France. E-mail address: [email protected] (D. Gallot).
the cleft. The type IV of the Benjamin and Inglis classification corresponds to a cleft extending into the thoracic trachea, potentially down to the carina [2]. We report a case of type IV LC misdiagnosed as esophageal atresia (EA) prenatally. 2. Case description A 39-year-old patient, gravida 2 parity 1, was referred at 34+6 weeks of gestation (WG) for polyhydramnios. Ultrasound examination confirmed amniotic fluid index at 25 cm, and revealed absent stomach and a mediastinal ‘‘pouch sign’’ (Fig. 2). An EA was suspected. Amniocentesis was performed and obtained normal karyotype and normal CGH array. The patient underwent two amniodrainages at 34+6 and 38+0 WG. She was then admitted at 38+5 WG for labor induction. She delivered a girl by cesarean section for abnormal cardiac fetal heart rate, weighting 2565 g (8th percentile), Apgar 1/4/6 at 1/5/10 min, umbilical artery pH 7.21. In the absence of spontaneous ventilation, the child was ventilated by Continuous Positive Airway Pressure and transferred to the neonatal intensive care unit at 20 min of life. Important secretions of the upper airways suggested the existence of an esotracheal fistula. A tracheoscopy was performed at one day of life demonstrating a complete
https://doi.org/10.1016/j.jogoh.2018.09.003 C 2018 Published by Elsevier Masson SAS. 2468-7847/
Please cite this article in press as: Bruhat C, et al. Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia. J Gynecol Obstet Hum Reprod (2018), https://doi.org/10.1016/j.jogoh.2018.09.003
G Model
JOGOH-1471; No. of Pages 3 C. Bruhat et al. / J Gynecol Obstet Hum Reprod xxx (2018) xxx–xxx
2
Fig. 1. Benjamin and Inglis classification system. Type I: interarytenoid defect to the level of the true vocal folds. Type II: partial extension of the defect through the posterior cricoid cartilage. Type III: extension of the defect completely through the posterior cricoid cartilage and possible extension into the cervical trachea. Type IV: extension of the defect into the intrathoracic trachea with possible extension down to the carina.
communication between the trachea and the esophagus (Fig. 3). The cleft went down to the carina. At day 4 of life, the patient was transferred to another institution to undergo surgical repair by sternotomy under use of a heart-lung bypass machine. A second procedure was required six months later due to partial dehiscence at the suture site and a Nissen procedure was performed at the age of one year. Oral feeding remained impossible at the age of 22 months. 3. Discussion Prenatal sonographic detection of EA relies on the presence of a small or non-visualized fetal stomach bubble associated with
polyhydramnios and by the direct visualization of the fluid-filled, blind-ending esophagus during fetal swallowing called ‘‘pouch sign’’ [6,7]. Although only less than half of fetuses with EA display this distinct finding, its presence was considered virtually pathognomonic for the condition [6]. Solt et al. described false positive cases in six fetuses with polyhydramnios, small or absent stomach and upper neck pouch sign between 18 and 29 WG. Normal esophagus was present at birth but polyhydramnios always had resolved during pregnancy and stomach was finally found to be normal in size and shape [8]. Our case illustrates that typical sonographic features of EA can also correspond to LC especially severe forms. We hypothesize that abnormal communication between esophagus and trachea makes peristalsis inefficient for adequate progression of swallowed fluid till stomach. Therefore stomach remains flat and persistence of fluid in the enlarged esophagus mimics the classical ‘‘pouch sign’’. According to Langer et al., the criterion for EA in T2-weighted MRI is a non-visualization of the intrathoracic portion of the esophagus [9]. More recently, MRI was considered useful for the diagnosis of EA through the visualization of the oesophageal pouch or through associated signs such as tracheal bowing [10]. We did not perform MRI and it is not clear if it could help to distinguish interrupted esophagus and LC. Czerkiewicz et al. described a biochemical amniotic fluid index corresponding to the multiplication of alpha-fetoprotein by gamma-glutamyl transpeptidase, both expressed in multiple of median. Using a cutoff of 3, they observed 98% sensitivity and 100% specificity for prenatal diagnosis of EA [11]. Another study only observed a 89% sensitivity and 60% specificity for the biochemical index and considered that MRI was the best predictive test [12]. We did not measure this index but its ability to distinguish EA from LC remains questionable. In conclusion, the prenatal association of absent stomach, polyhydramnios and mediastinal ‘‘pouch sign’’ is not pathognomonic for EA and can also correspond to severe form of LC. It could be warranted to offer MRI and biochemical amniotic fluid index in all cases of suspected EA.
Fig. 2. Para-sagittal ultrasonographic view of the fetal thorax at 34+6 weeks of gestation (arrow shows ‘‘pouch’’ sign).
Please cite this article in press as: Bruhat C, et al. Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia. J Gynecol Obstet Hum Reprod (2018), https://doi.org/10.1016/j.jogoh.2018.09.003
G Model
JOGOH-1471; No. of Pages 3 C. Bruhat et al. / J Gynecol Obstet Hum Reprod xxx (2018) xxx–xxx
3
References
Fig. 3. Endoscopic view of laryngotracheooesophageal cleft with the two primary bronchi (*) and the lower part of the cleft (#).
Disclosure of interest This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
[1] Leboulanger N, Garabedian E. Laryngo-tracheo-oesophageal clefts. Orphanet J Rare Dis 2011;6:81. [2] Benjamin B, Inglis A. Minor congenital laryngeal clefts: diagnosis and classification. Ann Otol Rhinol Laryngol 1989;98:417–20. [3] Strychowsky J, Rahbar R. Laryngotracheoesophageal clefts. Semin Pediatr Surg 2016;25:128–31. [4] Blumberg J, Stevenson J, Lemire R, Boyden E. Laryngotracheoesophageal cleft, the embryologic implications: review of the literature. Surgery 1965;57:559–66. [5] Fraga J, Adil E, Kacprowicz A, Skinner M, Jennings R, Lillehei C, et al. The association between laryngeal cleft and tracheoesophageal fistula: myth or reality? Laryngoscope 2015;125:469–74. [6] Brantberg A, Blaas H, Haugen S, Eik-Nes S. Esophageal obstruction-prenatal detection rate and outcome. Ultrasound Obstet Gynecol 2007;30:180–7. [7] Centini G, Rosignoli L, Kenanidis A, Petraglia F. Prenatal diagnosis of esophageal atresia with the pouch sign. Ultrasound Obstet Gynecol 2003;21:494–7. [8] Solt I, Rotmensch S, Bronshtein M. The esophageal ‘‘pouch sign’’: a benign transient finding. Prenat Diagn 2010;30:845–8. [9] Langer J, Hussain H, Khan A, Minkes R, Gray D, Siegel M, et al. Prenatal diagnosis of esophageal atresia using sonography and magnetic resonance imaging. J Pediatr Surg 2001;36:804–7. [10] Hochart V, Verpillat P, Langlois C, Garabedian C, Bigot J, Houfflin-Debarge V, et al. The contribution of fetal MR imaging to the assessment of oesophageal atresia. Eur Radiol 2015;25:306–14. [11] Czerkiewicz I, Dreux S, Beckmezian A, Benachi A, Salomon L, Schmitz T, et al. Biochemical amniotic fluid pattern for prenatal diagnosis of esophageal atresia. Pediatr Res 2011;70:199–202. [12] Garabedian C, Verpillat P, Czerkiewicz I, Langlois C, Muller F, Avni F, et al. Does a combination of ultrasound, MRI, and biochemical amniotic fluid analysis improve prenatal diagnosis of esophageal atresia? Prenat Diagn 2014;34:839– 42.
Please cite this article in press as: Bruhat C, et al. Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia. J Gynecol Obstet Hum Reprod (2018), https://doi.org/10.1016/j.jogoh.2018.09.003