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 Table of Contents  
Year : 2019  |  Volume : 52  |  Issue : 6  |  Page : 232-234

VACTERL association with left pulmonary agenesis in an infant

Department of Pediatric Surgery, SMS Medical College, Jaipur, Rajasthan, India

Date of Submission22-Jun-2019
Date of Decision19-Aug-2019
Date of Acceptance18-Sep-2019
Date of Web Publication05-Dec-2019

Correspondence Address:
Dr. Aditya Pratap Singh
Near The Mali Hostel, Main Bali Road, Falna, Pali, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/fjs.fjs_52_19

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VACTERL association is sporadic and nonrandom, with co-occurrence of various congenital malformations in a single patient due to defect in structures derived from embryonic mesoderm. The VACTERL association with pulmonary agenesis is very rare; few cases have been reported only in neonates till now in the past, as most babies could not survive longer. However, we present a rare case of VACTERL association with left pulmonary agenesis in a 9-month-old infant.

Keywords: Pulmonary agenesis, VACTERL association, vestibular fistula

How to cite this article:
Pawar N, Singh AP, Gupta AK, Tanger R. VACTERL association with left pulmonary agenesis in an infant. Formos J Surg 2019;52:232-4

How to cite this URL:
Pawar N, Singh AP, Gupta AK, Tanger R. VACTERL association with left pulmonary agenesis in an infant. Formos J Surg [serial online] 2019 [cited 2022 Aug 14];52:232-4. Available from: https://www.e-fjs.org/text.asp?2019/52/6/232/272319

  Introduction Top

VACTERL association specifically refers to the structural abnormalities derivative of the embryonic mesoderm (disruption in the proliferation, migration, and differentiation of mesoderm).[1] It is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities in a single patient.[2] The incidence is estimated between 1 in 10,000 and 1 in 40,000 live-born infants.[2] Pulmonary agenesis is an uncommon anomaly that has been reported in isolation and in association with other congenital defects.[3] In this report, we describe an infant that was born with most of the defects described in VACTERL association along with left pulmonary agenesis, which is extremely rare.

  Case Report Top

A female baby of weight 3.1 kg was born to a 20-year-old nonconsanguineously married, primigravida mother at 38 weeks of gestational age, which was delivered by spontaneous normal vaginal delivery at a primary health center (PHC). The baby cried immediately after birth, with APGAR scores 8 and 10 at 1 min and 5 min, respectively, as per the PHC record. According to the mother, the baby passed meconium on the same day of delivery and was advised to go home. During this pregnancy, the mother was registered and immunized. She underwent regular antenatal checkups and also twice obstetric scan in her pregnancy which was told to be normal, and there was no significant past medical or surgical history. There was a family history of congenital anomalies, i.e., anorectal malformation (ARM) in the paternal side.

The baby was exclusively breastfed, but after 1 month, she had an attack of a cold and was shown to a local doctor, followed by repeated attacks of cold and fever. The baby was advised chest X-ray, was diagnosed with left-lung pneumonitis by the local doctor, and was referred to a pediatrician and treated for pneumonitis; as symptoms subsided, the baby was sent home.

At the age of 3 months, 15 days, the baby had an attack of diarrhea, and accidentally, the mother noticed the absence of normal anal opening and stool coming out from the vagina. Hence, she took the baby to a pediatrician where she was treated for diarrhea. Then, the baby was referred to us, was diagnosed with ARM with vestibular fistula (VF) [Figure 1]a, and hence was advised routine blood investigations. All the results came out to be normal, and colostomy was done at the age of 4 months; colostomy started functioning on the 1st postoperative day and the mother was advised about colostomy care. The baby was discharged on postoperative day 3 [Figure 1]c.
Figure 1: (a) Vestibular fistula with three openings in the vestibule, (b) computed tomography of the chest agenesis of the left lung, (c) colostomy, (d) club foot

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At the age of 9 months, the baby was brought to our hospital again for posterior sagittal anorectoplasty (PSARP). The baby was otherwise healthy with a history of repeated minor cold attacks. Chest X-ray revealed absence of bronchovascular markings. Clinical examination demonstrated ARM with VF which was treated with colostomy; sacral sinus; right-sided club foot [Figure 1]d for which splinting was done; complete absence of breath sounds on the left side; and a systolic murmur. On investigation, the following were revealed: computed tomography (CT) of the thorax – s/o left pulmonary agenesis [Figure 1]b and e/o spina bifida at T2–T4 levels; ultrasonography abdomen – s/o absent right kidney; and echocardiography – s/o patent ductus arteriosus (PDA) (~3.1 mm) shunting left to right. PSARP was done under general anesthesia. The baby was discharged without any postoperative complications and was advised for regular follow-ups.

  Discussion Top

Pulmonary agenesis is a congenital malformation that results in the complete absence of a lung. The exact cause of pulmonary agenesis is still unknown, and its true incidence is also unknown as 50% of cases are stillborn and over 20% die at birth or within their first few months of life.[4] Our case was born full term and healthy till date.

Pulmonary agenesis is classified into the following three groups, depending on the stage of development of the primitive lung bud:

  • Type 1 (agenesis) – Complete absence of the lung and bronchus and no vascular supply to the affected side
  • Type 2 (agenesis) – Rudimentary bronchus with a complete absence of pulmonary parenchyma
  • Type 3 (hypoplasia) – Presence of variable amounts of bronchial tree, pulmonary parenchyma, and supporting vasculature.

Our patient has been classified as Type 1 pulmonary agenesis.

A majority of patients with pulmonary agenesis also present with other associated anomalies, which include tracheal stenosis, PDA, pulmonary artery atresia, cardiac malformation, horseshoe kidney, and VACTERL association.[5] In our patient, it was a part of VACTERL association.

Roy et al. described that the clinical presentation of lung agenesis is marked by its variety from severe recurrent respiratory infection, which is a common finding during infancy. Infections result from either imperfect drainage of lung secretions or spillover of pooled secretions from a blind bronchial stump into normally developed lung parenchyma on the contralateral side.[5] Our patient had similar symptoms.

Patients with unilateral pulmonary agenesis may remain asymptomatic; the anomaly is identified as an incidental finding on routine examination or during workup for an alternative problem.[6] In our patient also, it was diagnosed during the workup of ARM. Computed tomography of the chest is considered to be the best diagnostic test for pulmonary agenesis as it allows for visualization of the bronchial tree, parenchyma, and vasculature.[5]

In the study by Knowles et al., all five babies with pulmonary agenesis as a part of VACTERL association were either stillborn or died in the neonatal period.[3] However, our patient underwent two surgeries, i.e., left transverse colostomy and PSARP for ARM, and alive till date.

No treatment is required in asymptomatic cases. Treatment is necessary for recurrent chest infections. Corrective surgery of associated congenital anomalies, wherever feasible, may be undertaken as we did PSARP for ARM in our case.

As pulmonary agenesis is a part of VACTERL association, diagnosis is usually missed and made incidentally in several studies,[5] as done in our case.

  Conclusion Top

We recommend chest radiograph in all patients with ARM or VACTERL as a part of workup.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient and the infant's guardian have given their consent for their images and other clinical information to be reported in the journal. The patient and the infant's guardian understand that the names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.


The authors would like to thank Dr. Neelam Dogra, Anaesthesiologist, Senior professor, SMS Medical College, Jaipur.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Gupta R, Chaturvedi V. VACTERL association with sacrococcygeal teratoma. Indian Pediatr 2016;53:746-7.  Back to cited text no. 1
Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis 2011;6:56.  Back to cited text no. 2
Knowles S, Thomas RM, Lindenbaum RH, Keeling JW, Winter RM. Pulmonary agenesis as part of the VACTERL sequence. Arch Dis Child 1988;63:723-6.  Back to cited text no. 3
Furia S, Biban P, Benedetti M, Terzi A, Soffiati M, Calabrò F, et al. Postpneumonectomy-like syndrome in an infant with right lung agenesis and left main bronchus hypoplasia. Ann Thorac Surg 2009;87:e43-5.  Back to cited text no. 4
Roy PP, Datta S, Sarkar A, Das A, Das S. Unilateral pulmonary agenesis presenting in adulthood. Respir Med Case Rep 2012;5:81-3.  Back to cited text no. 5
Yu Y, Zhu C, Qian X, Gao Y, Zhang Z. Adult patient with pulmonary agenesis: Focusing on one-lung ventilation during general anesthesia. J Thorac Dis 2016;8:E124-9.  Back to cited text no. 6


  [Figure 1]


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