Contents lists available at SciVerse ScienceDirect

J Ped Surg Case Reports 1 (2013) 203e206

Journal of Pediatric Surgery CASE REPORTS

journal homepage: www.jpscasereports .com

Unilateral lung agenesis associated with esophageal atresia &tracheoesophageal fistula: Report of two cases & review of literature

Sandesh V. Parelkar*, Hemangi R. Athawale, Beejal V. Sanghvi, Prashant B. Joshi, Satish P. Kapadnis,Sanjay N. Oak

Department of Paediatric Surgery, King Edward Memorial Hospital, E. Borges Road, Parel, Mumbai 400012, India

a r t i c l e i n f o

Article history:Received 15 April 2013Received in revised form4 June 2013Accepted 11 June 2013Available online 12 July 2013

Key words:Lung agenesisEsophageal atresia (EA)Tracheoesophageal fistula (TEF)

* Corresponding author. Tel.: þ91 9869039091 (mobE-mail address: sandeshparelkar@kem.edu (S.V. Pa

2213-5766 � 2013 The Authors. Published by Elsevierhttp://dx.doi.org/10.1016/j.epsc.2013.06.003

a b s t r a c t

The association of lung agenesis with esophageal atresia (EA) & tracheoesophageal fistula (TEF) isexceedingly rare with a lethal outcome. We describe two neonates with this association who underwentprimary repair shortly after birth. One of these neonates also had gross hydrocephalus, bilateral microtiaand right thumb deformity. The goal in the management of these patients is early protection andpreservation of respiratory units which is best accomplished by primary repair.

� 2013 The Authors. Published by Elsevier Inc. Open access under CC BY-NC-ND license.

The association of unilateral lung agenesiswith esophageal atresia(EA) and tracheoesophageal fistula (TEF) is exceedingly rare. Thiscombination of anomalies has been uniformly lethal. We describetwo cases of unilateral lung agenesis, esophageal atresia with tra-cheoesophageal fistula, one of which survived to the age of 1 year.

1. Case 1

A 3.3 kg term male neonate born by emergency caesarean sec-tion was referred on day 2 of life with the antenatal diagnosis ofcongenital hydrocephalus with aqueductal stenosis. On examina-tion there was frothing from the mouth, gross increase in headcircumference with wide open anterior fontanelle with suturaldiastases, bilateral ear microtia and right thumb deformity. Analcanal, external genitalia and spine were normal. Air entry was ab-sent on right side of the chest. Attempts to pass a nasogastric tubewere unsuccessful. Chest roentgenogram showed an opacified righthemithorax and a hyperinflated left lung with a larger left

Fig. 1. Clinical photograph showing gross hydrocephalus with ear microtia.ile).relkar).

Inc. Open access under CC BY-NC-ND license.

Fig. 2. Clinical photograph showing thumb deformity.

S.V. Parelkar et al. / J Ped Surg Case Reports 1 (2013) 203e206204

hemithorax and shift of trachea and mediastinum to right. The redrubber catheter tip was lying at T4 level with normal pattern. Thesefindings were consistent with right pulmonary agenesis, esopha-geal atresia and TEF type C. An extra rib was present on the rightside. Ultrasound of the abdomen showed right renal agenesis. Acomputed tomography (CT) scan of the thorax showed absent right

Fig. 3. Chest radiograph posterio-anterior view showing right lung agenesis, EA withTEF type C.

Fig. 4. Chest radiograph lateral view showing right lung agenesis, EA with TEF type C.

lung. On right posterolateral thoracotomy, right lung was absent.The distal esophagus was located on the left of the descendingaorta, and was traced upward to its communication with the tra-chea. The fistula was ligated and divided. A single-layer esophago

Fig. 5. Intraoperative photograph showing right lung agenesis with TEF type C.

Table 1Review of cases of lung agenesis (la) with tracheoesophageal fistula (tef).

No References Year Diagnosis Other abnormalities Outcome Remarks

1 Klebs (1874) cited by Meyer [3] 1910 Lt la-tef Nil Died Details unavailable2 Paul [3] 1928 Lt la-tef PDA & limb deformities Died Details unavailable3 Wehr (1934) cited by Bonnholtzer [3] 1938 Rt la-tef VSD defective Lt diaphragm; spleen

and stomach in Lt pleural cavityatresia of larynx

Died Details unavailable

4 Lelong, Vialette, Couder, Giffard [3] 1950 Lt la-tef Hare-lip and cleft palate; absent Ltkidney

Died Details unavailable

5 Naclerio and Hochberg [3] 1950 Rt la-tef Horseshoe-shaped kidneys; fusedlower lumbar vertebrae

Died Details unavailable

6 Caussade, Neimann, Benichoux [3] 1952 Rt la-tef ASD; Lt brachiocephalic vein drainedinto pulmonary vein

Died Details unavailable

7 Macht and Bessinger cited by Valle [3] 1952 Lt la-tef Nil Died Details unavailable8 Thomas and Boyden [3] 1952 Rt la-tef Ectopic position of Lt pulmonary

arteryDied Details unavailable

9 Zhuchkova and Peschanskii [3] 1955. Rt la-tef PDA; single ventricle Died Details unavailable10 Caramello [3] 1956. Lt la-tef Absent Lt kidney and ureter Died Details unavailable11 Smith and Bech [3] 1958 Rt la-tef Fusion of several Rt upper ribs; fusion

of rudimentary Rt lower ribs;vertebral anomalies

Died Details unavailable

12 Warner, McGraw, Peterson, Cleland,and Meyer [3]

1961 Rt la-tef Nil Died Details unavailable

13 Tosi and Ziliotto [3] 1964 Rt la-tef Nil Died Details unavailable14 Brerton RJ, Rickwood MK 2 cases [13] 1983 Rt la-tef Nil Survived for 60 days Details unavailable15 Preston black et al. [4] 1986 Rt la-tef Nil Survived for 10 months Gastrostomy with tef ligation16 Kazau Tayagi et al. [5] 1987 Rt la-tef Left hemivertebra at C7, butterfly

vertebra of T5 & 13 pairs of ribsAlive reported for 2 yr Gastrostomy & feeding

jejunostomy f/u by delayedprimary esophagoesophageal anastomosis

17 Mark Hoffman et al.: 2 cases [6] 1989 Rt la-tef Duodenal aterasia with left sidedaortic arch

Alive reported for 24and 18 months

Primary esophago esophagealanastomosis

18 Kevin MD et al. [9] 1995 Rt la-tef Left sided aortic arch, PDA,hypertrophic pyloric stenosis

Alive reported for 1 yr Gastrostomy f/u by delayedprimary esophagoesophageal anastomosis

19 Kitawa et al. [6] 1995 Rt la-tef Hypertrophic pyloric stenosis Alive reported for 2 yr Gastrostomy f/u by delayedprimary esophagoesophageal anastomosis

20 YK Sarin [14] 1995 Rt la-tef Right sided cleft lip with cleft palate Died at D5 of life Primary esophago esophagealanastomosis

21 Lokare RV [10] 1997 Rt la-tef Nil Died at D5 of life Managed conservatively22 Chen Y et al. in [11] 2002 Rt la-tef Tracheal stenosis Died at D39 of life Primary esophago esophageal

anastomosis23 Downward CD et al. [15] 2004 Rt la-tef Duodenal atresia Alive reported for 1 yr Primary esophago esophageal

anastomosis24 Starz, Neil Patel et al.: 3 case [17] 2007 Rt la-tef Duodenal atresia Alive reported for 1 yr Primary esophago esophageal

anastomosis25 Pratap Singh Yadav et al. [16] 2011 Rt la-tef Duplication of azygous vein Died at D3 of life Primary esophago esophageal

anastomosis26 Present study 2012 Rt la-tef Gross hydrocephalus, b/l ear

microtia, right thumb deformity Rtrenal agenesis

Died at 1 yr & D10 oflife

Primary esophago esophagealanastomosis

Abbreviations: Rt, right; Lt, left; ASD, atrial septal defect; la, lung agenesis; VSD, ventricular septal defect; tef, tracheoesophageal fistula; PDA, patent ductus arteriosis.

S.V. Parelkar et al. / J Ped Surg Case Reports 1 (2013) 203e206 205

esophageal anastomosis was performed. The neonate was main-tained on mechanical ventilator and gradually weaned to extuba-tion in 3 days. Water soluble contrast study on postoperative day 6revealed no leak.

2. Case 2

A 2.2 kg termmale neonate born by normal vaginal delivery wasreferred on day 2 of life with a history of frothing from the mouth.Chest roentgenogram showed an opacified right hemithorax withshift of heart to right side. The tip of a red rubber tube was seen inthe proximal esophagus with gas present in abdomen, suggestive ofright lung agenesis with a TEF type C. Right posterolateral thora-cotomy with esophago esophageal anastomosis was performed.Findings were otherwise similar to the previous case. The neonaterequired mechanical ventilation for 4 days, and gradually weaned.

Contrast study with water soluble dye post-operatively revealed noleak. The patient was discharged on feeds. He had intermittentepisodes of respiratory tract infections in the first year of life andsuccumbed at 1 year of age following a severe pulmonary infection(Figs 1e5).

3. Discussion

Agenesis of the lung is believed tobe causedby failure tomaintainthe developmental balance between the two lung buds (Table 1).Schechter [1] has classified pulmonaryagenesis or aplasia as Type Iecomplete absence of both bronchial and alveolar tissue and Type IIecomplete absence of alveoli but partial presence of major bronchialelements. In either type, no lung tissue is visible on radiologicalimages. The incidence of unilateral pulmonary agenesis is 1 in10,000e15,000 autopsies [2]. It is believed that both pulmonary

S.V. Parelkar et al. / J Ped Surg Case Reports 1 (2013) 203e206206

agenesis and esophageal atresia occur during the fourth and fifthweek of gestation, resulting from faulty partitioning of the foregutinto the esophagus and trachea [3]. Plain chestX-ray showscompleteopacificationof thehemithoraxwithmediastinal shift to the affectedside and hyperinflation of the contralateral lung. Computed tomog-raphy (CT) scan can show the entire bronchopulmonary system andthe location of the heart. More than 50% of patients with pulmonaryagenesis have associated anomalies including heart defects. Fiftypercent of children bornwithpulmonaryagenesis are stillbornordiewithin first months of life from these concomitant anomalies. Pa-tients who survive beyond the neonatal period have respiratorydifficulties with diminished pulmonary function and impaired res-piratory reserve.Most die of pneumonia. The average life expectancyof right lung agenesis was reported as 6 years and 16 years with leftlung agenesis [4]. Unilateral pulmonaryagenesis associatedwith EA-TEF is a rare condition;Only 37 cases have been reported todate [12].The birthweights ranged from1000 g to 2900 g (average 2303 g) [6].This association was first described by Klebs in 1874 cited by Meyerin1910. Booth and Berry recorded 13 cases in their literature reviewin 1967, in the series, the right lungwas absent in 8 cases and the leftin five. All died before the age of 2 months [3]. Black and Welchstudied 15 cases of this association in 1986. Out of 16 cases, 10 hadagenesis of the right lung, four had agenesis of the left lung, and twohad bilateral agenesis, in this series, 11 infants died of associatedanomalies (nine had congenital cardiac disease and twohadbilateralpulmonary agenesis) and one died of extreme prematurity withanother succumbing toa combinationof unrelieved tracheal stenosisand anastomotic leak [4]. These authors proposed that tracheotomywasbeneficial since thevastmajorityof childrenwithEAandTEFhadtracheomalacia, which may be the major problem in a child withpulmonary agenesis. Kazau Tayagi et al., in 1987 reported a full termmale neonatewith EA and TEF type C, and right pulmonary agenesis,inwhomgastrostomyand jejunostomy followed by delayed primaryesophageal anastomosisweredone. This patient had a good recovery[7]. Hoffman et al., in 1989 described two cases of EAwith TEF type C,and right pulmonary agenesis, one of whom was associated withduodenal atresia, both were well at 24 and 18 months, respectively[8]. Kevin et al., in 1994 reported a small-for-gestational-age, pre-mature neonate with similar association treated by early gastro-stomyanddelayedfistula divisionwith esophageal anastomosis. Thepatient also had hypertrophic pyloric stenosis and a pyloromyotomywith Nissen’s fundoplication was performed [9]. Kitagawa et al., in1995 describe a neonatewith unilateral pulmonary agenesiswith EAwith TEF [6]. Definitive repair for the atresia was completed duringtheearlyneonatal period, and thepatient is alive andwell,more than1 year after surgery. Chen et al., in 2002 described a premature fe-male infant who had tracheal stenosis, right lung agenesis and EA.The baby died of respiratory failure at the age of 39 days [11]. Thoughsurvival has been reported in a few cases, including one of our own,this association appears tohave apoorprognosis. Thegoal in treatingsuch patients should be preservation of respiratory function even ifesophageal continuity must be sacrificed. The tracheoesophagealfistula should be divided immediately since infants have littlegastroesophageal sphincter function to impede reflux of gastric acidinto the pulmonary tree. Primary esophageal anastomosis should be

performed if technically feasible at the initial operation otherwise,cervical esophagostomy should be constructed.

4. Conclusion

Survival of unilateral lung agenesis associatedwith EA and TEF ispoor. Unilateral lung agenesis associated with EA with TEF withhydrocephalus has not been reported in English literature.

Consent

Written informed consentwas obtained from the patient guardianfor publication of this case report and accompanying images.

Conflict of interestNone.

Sources of fundingNone.

References

[1] Schechter DC. Congenital absence or deficiency of lung tissue: the congenitalsubtractive bronchopneumonic malformation. Ann Thorac Surg 1968;6:286e313.

[2] Olcott CT, Dodey SW. Agenesis of lung in an infant. Am J Dis Child 1945;65:776e89.

[3] Booth JB, Berry C, Booth JB, Berry CL. Unilateral pulmonary agenesis. Arch DisChild 1967;42:361e74.

[4] Black PR, Welch KJ. Pulmonary agenesis (aplasia), oesophageal atresia andtracheoesophageal fistula: a different treatment strategy. J Pediatr Surg 1986;21:936e8.

[5] Hopkin WA. Unilateral agenesis, aplasia and hypoplasia of lung in gray SW. In:Skandalakis JE, editor. Embryology for Surgeons. Philadelphia: Saunders; 1972.p. 303e7.

[6] Kitagawa H, Nakada K, Fujioka T, Kawaguchi F, Enami T, Yamate N, et al.Unilateral pulmonary agenesis with tracheoesophageal fistula: a case report.J Pediatr Surg 1995;30:1523e5.

[7] Takayanagi K, Grochowska E, Nas SA. Pulmonary agenesis with, oesophagealatresia with, tracheoesophageal fistula. J Pediatr Surg 1987;22:125e6.

[8] Hoffman MA, Superina R, Wesson DE. Unilateral pulmonary agenesis withoesophageal atresia and distal tracheo-oesophageal fistula: report of twocases. J Pediatr Surg 1989;24:1084e6.

[9] Steadland KM, Langham Jr MR, Greene MA, Bagwell CE, Kays DW, Talbert JL.Unilateral pulmonary agenesis, esophageal atresia, and distal trache-oesophageal fistula. Ann Thorac Surg 1995;59:511e3.

[10] Lokare RV, Manvi RS. Esophageal atresia with right pulmonary agenesis. In-dian Pediatr 1998;35:555e7.

[11] Chen CY, Tsao PN, Chou HC, Chen SJ, Tsou KI. Oesophageal atresia associatedwith tracheal stenosis and right lung agenesis report of one case. Acta PaediatrTaiwan 2002;43:348e50.

[12] Harmon Carroll M, Coran Arnold G. James O’ Neil paediatric surgery textbook.7th ed.; 2012. p. 893e919.

[13] Brerton RJ, Rickwood MK. Oesophageal atresia with pulmonary agenesis.J Pediatr Surg 1983;18:618e20.

[14] Sarin YK. Esophageal atresia and tracheoesophageal fistula with right pul-monary agenesis. Indian Pediatr 1996;33:595e9.

[15] Downard CD, Kim HB, Laningham F, Fishman SJ. Esophageal atresia, duodenalatresia and unilateral lung agenesis: a case report. J Pediatr Surg 2004;39:1283e5.

[16] Yadav PS, Pant N, Chadha R, Choudhury SR. Oesophageal atresia and trache-oesophageal fistula with right pulmonary agenesis and duplication of theazygos vein. Lady Hardinge Medical College. Indian J Pediatr 2012;97:513.

[17] Stark Z, Patel N, Clarnette T, Moody A. Triad of tracheoesophageal fistula-esophageal atresia, pulmonary hypoplasia, and duodenal atresia. J Pediatr Surg2007;42:1146e8.