|Ahead of print publication
VACTERL association in Kano, North-West Nigeria: A case report
Ibrahim Ahmadu1, Muhammad Shakur Abubakar1, Mustafa O Asani2, Ibrahim Aliyu2
1 Department of Paediatrics, Aminu Kano Teaching Hospital, Kano, Nigeria
2 Department of Paediatrics, Aminu Kano Teaching Hospital/Bayero University, Kano, Nigeria
|Date of Submission||10-Jan-2022|
|Date of Decision||10-Feb-2023|
|Date of Acceptance||13-Feb-2023|
|Date of Web Publication||10-Apr-2023|
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano
Source of Support: None, Conflict of Interest: None
VACTERL association is a term used to describe the simultaneous occurrence of at least 3 of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformation, tracheo-oesophageal fistula, renal dysplasia, and limb abnormalities. Most cases occur sporadically with an estimated incidence rate of 1 in 10,000 – 40,000 births. We report the case of an 11-month-old infant that presented with a complaint of recurrent cough and difficulty in breathing since 1 month of life. There is also the history of delayed motor developmental milestones. Physical examination and investigations revealed the presence of VACTERL association (bilateral talipes equinovarus deformity, multiple cardiac shunt lesions, and malformation of the 5th lumbar vertebrae with dural ectasia and lumbosacral scoliosis). She has been on oral diuretics and is currently on follow-up in pediatric cardiology, orthopedic, and neurosurgery clinics. This case report highlights the presence of a rare case of the VACTERL association in Kano, North-West Nigeria.
Keywords: Congenital malformations, infant, sporadic, VACTERL association
|How to cite this URL:|
Ahmadu I, Abubakar MS, Asani MO, Aliyu I. VACTERL association in Kano, North-West Nigeria: A case report. Niger J Basic Clin Sci [Epub ahead of print] [cited 2023 Jun 10]. Available from: https://www.njbcs.net/preprintarticle.asp?id=373992
| Introduction|| |
VACTERL association is a term used to describe the simultaneous occurrence of at least 3 of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformation, tracheo-oesophageal fistula, renal dysplasia, and limb abnormalities. Three malformations are seen in most of the cases of VACTERL association, while the presence of all 6 malformations is seen in less than 1% of cases. Although most cases occur sporadically with an estimated incidence rate of 1 in 10,000 – 40,000 births, rare cases of familial inheritance with increased prevalence in first-degree relatives have been reported. We, therefore, report a case of VACTERL association in an 11-month-old infant in Kano, North-West Nigeria, who presented with vertebral, cardiac, and limb anomalies.
| Case Report|| |
An 11-month-old female infant presents with complaints of recurrent cough and difficulty in breathing since 1-month of life. There is a small swelling on her back and abnormality of both feet noticed since birth, with associated delayed motor developmental milestones. She was hospitalized at the age of 3 months for severe bronchopneumonia. Pregnancy and delivery were free of adverse events. No maternal exposure to radiation, toxic substances, or teratogenic drugs during pregnancy. No chronic illnesses such as diabetes mellitus (DM) in the mother. No family history of consanguinity or congenital malformations.
Physical examination revealed a small-for-age child with grade 4/6 pansystolic murmur at the left lower sternal border and a continuous murmur at the left upper sternal border. There is lumbosacral dysraphism, scoliosis, bilateral talipes equinovarus, hypotonia, and hyporeflexia in the lower limbs. Echocardiography revealed multiple cardiac shunt lesions [Figure 1] and [Figure 2]: perimembranous ventricular septal defect (VSD) measuring 5.8 mm, patent ductus areteriosus (PDA) measuring 6.2 mm, and secundum atrial septal defect (ASD) measuring 3.1 mm. Magnetic resonance imaging (MRI) of the spine showed malformation of the 5th lumbar vertebrae (L5 butterfly vertebrae) with dural ectasia and lumbosacral scoliosis [Figure 3] and [Figure 4]. An abdomino-pelvic ultrasound scan (USS) revealed normal study.
|Figure 1: Transthoracic echocardiography (apical 4-chamber view) showing secundum atrial septal defect (ASD) and perimembranous ventricular septal defect (VSD)|
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|Figure 2: Transthoracic echocardiography (PSAX view with colour Doppler) showing retrograde flow of blood through patent ductus arteriosus (PDA)|
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|Figure 3: Mid-sagittal T2W Magnetic resonance imaging (MRI) showing malformation of the 5th lumbar vertebrae (L5 butterfly vertebrae) with dural ectasia|
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|Figure 4: Coronal T2W Magnetic resonance imaging (MRI) showing malformation of the 5th lumbar vertebrae (L5 butterfly vertebrae) with lumbosacral scoliosis|
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She has been on oral diuretics (furosemide and spironolactone) and is currently on follow-up in pediatric cardiology, orthopedic, and neurosurgery clinics.
| Discussion|| |
Congenital anomalies are structural, functional, metabolic, or behavioral disorders that occur during intrauterine life, which can be identified in-utero, at the birth or later in infancy. VACTERL association is a group of congenital anomalies, comprising vertebral anomalies (V), anal atresia (A), cardiac malformation (C), tracheo-oesophageal fistula (TE), renal dysplasia (R), and limb abnormalities (L). In VACTERL association, vertebral anomalies and limb defects occur in about 70% of cases while cardiac malformations (such as ASD, VSD, and TOF) are seen in 65% of cases.
The case we report presents with vertebral anomalies (L5 butterfly vertebrae with dural ectasia and lumbosacral scoliosis), limb defect (bilateral talipes equinovarus), and cardiac malformation (ASD, VSD, and PDA). Lookzadeh et al. in Iran reported a case of VACTERL association who presented with ASD, sacral agenesis, trachea-oesophageal fistula, and a single phalanx on the left-hand fingers. Putra et al. in Indonesia reported a case with a cardiac malformation (pink TOF), anal atresia, and right renal agenesis with left hydronephrosis. Okpara et al. in Yenagoa, Nigeria reported a case who presented with vertebral defect, limb defect, and imperforate anus.
Although the actual cause is unknown, recent studies have suggested a possible link between VACTERL association and a defect in the Sonic hedgehog (Shh) pathway during human embryogenesis. Risk factors include maternal pregestational DM and smoking, lack of peri-conceptional folic acid supplementation, assisted reproductive techniques, and low socio-economic status., The case we report was born to parents with low socio-economic status, however, the other risk factors highlighted above were absent.
The diagnosis of VACTERL association is based on the clinical presentation of the patient; however imaging studies such as echocardiography, computed tomography scan (CT scan) and MRI may be useful in confirming some of the findings. Detail review is also important in order to rule out other disease entities such as Fanconi anemia, Pallister-Hall syndrome, Towne-Brocks syndrome, and DiGeorge syndrome which may present with overlapping features with that of VACTERL association. Prenatal diagnosis can be made through the detection of vertebral, renal, and limb anomalies, as well as cardiac malformations using antenatal USS.
The overall management of patients with VACTERL association depends on the features present; however, the main treatment modality for some congenital anomalies like cardiac malformations, anal atresia, and trachea-oesophageal fistula is a surgery during the post-partum period. Medical management such as the use of diuretics in cases with congenital cardiac malformations prior to definitive surgery or as long-term management of complications important in some cases of VACTERL association. The case we report has multiple cardiac shunt lesions and was commenced on diuretics (oral furosemide and spironolactone).
| Conclusion|| |
Although the VACTERL association has been described in the literature, the case we report is an infant who presented with a very rare congenital anomaly of the spine (L5 butterfly vertebrae), as well as cardiac and limb anomalies.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]