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A case of VACTERL and non-VACTERL association without the "V and L".

Padma S, Sundaram PS, Sonik B - Indian J Nucl Med (2014)

Bottom Line: Diagnosis of VACTERL association is done only when at least three of the above mentioned congenital malformations are identified in a patient.Although 80% of these cases have vertebral defects, our case is unique as patient does not have one of the commonest occuring association i.e., vertebral anomalies, but has all other associations and an additional non VACTERL brain anomaly, hitherto unreported in the literature.Finally VACTERL and non VACTERL association was considered in our patient in view of ventricular septal defect, tracheo esophageal fistula, anal atresia, renal anomaly, seizure disorder and global developmental delay due to pontocerebellar hypoplasia.

View Article: PubMed Central - PubMed

Affiliation: Department of Nuclear Medicine and PET CT, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham University, Cochin, Kerala, India.

ABSTRACT
VACTERL is a cluster of congenital malformations based on the non-random association of various congenital malformations in a single patient. Here "V" denotes vertebral defects or vascular anomalies (single umbilical artery), "A" anal atresia, "C" cardiac abnormalities, "TE" tracheoesophageal fistula, "R"renal (kidney) abnormalities and "L" for limb anomalies) It is called an association, rather than a syndrome because the complications are not pathogenetically related, tend to occur more frequently than expected and are thought to be linked to embryonic mesodermal defects. Studies have reported the coexistence of various other congenital malformations such as respiratory, cerebral anomalies, which are frequently referred as non-VACTERL-type of associations. Diagnosis of VACTERL association is done only when at least three of the above mentioned congenital malformations are identified in a patient. Although 80% of these cases have vertebral defects, our case is unique as patient does not have one of the commonest occuring association i.e., vertebral anomalies, but has all other associations and an additional non VACTERL brain anomaly, hitherto unreported in the literature. The other highlight of this case is although reports say that VACTERL babies with ipsilateral renal disorder have the same side limb defects, our case has a renal anomaly with no limb anomaly. Finally VACTERL and non VACTERL association was considered in our patient in view of ventricular septal defect, tracheo esophageal fistula, anal atresia, renal anomaly, seizure disorder and global developmental delay due to pontocerebellar hypoplasia.

No MeSH data available.


Related in: MedlinePlus

Barium swallow showed smooth transit of barium through the esophagus confirming absence of any esophageal atresia. There was evidence of small contrast filled out pouching at the level of carina (marked as esophageal out pouching). There was no stricture or hold up of contrast in esophagus. On distending the stomach (marked as S), reflux of contrast was noted into esophagus (up to the level of suprasternal notch) confirming grade III gastro esophageal reflux
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Figure 3: Barium swallow showed smooth transit of barium through the esophagus confirming absence of any esophageal atresia. There was evidence of small contrast filled out pouching at the level of carina (marked as esophageal out pouching). There was no stricture or hold up of contrast in esophagus. On distending the stomach (marked as S), reflux of contrast was noted into esophagus (up to the level of suprasternal notch) confirming grade III gastro esophageal reflux

Mentions: GER scintigraphy [Figure 2] is an important common complication post TEF repair.[78] The study was performed using 37 MBq of 99mTc Sulfur colloid mixed in fruit juice, which was ingested by patient. Dynamic images reveal grade III GER. However, there was no aspiration into both lungs at 4 h delayed images. Incidentally an abnormal focus of tracer accumulation was seen in dynamic and delayed images at the carinal level, which correlates to a site of esophageal out pouching (EOP). Barium swallow [Figure 3] was subsequently performed, which showed smooth transit of barium through the esophagus thus confirming the absence of any esophageal atresia. There was evidence of small contrast filled out pouching at the level of carina which corresponds to the tracer accumulation at carinal level in GER scintigraphy. On distending the stomach, reflux of contrast was noted into esophagus (up to the level of suprasternal notch) confirming grade III GER.


A case of VACTERL and non-VACTERL association without the "V and L".

Padma S, Sundaram PS, Sonik B - Indian J Nucl Med (2014)

Barium swallow showed smooth transit of barium through the esophagus confirming absence of any esophageal atresia. There was evidence of small contrast filled out pouching at the level of carina (marked as esophageal out pouching). There was no stricture or hold up of contrast in esophagus. On distending the stomach (marked as S), reflux of contrast was noted into esophagus (up to the level of suprasternal notch) confirming grade III gastro esophageal reflux
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3928753&req=5

Figure 3: Barium swallow showed smooth transit of barium through the esophagus confirming absence of any esophageal atresia. There was evidence of small contrast filled out pouching at the level of carina (marked as esophageal out pouching). There was no stricture or hold up of contrast in esophagus. On distending the stomach (marked as S), reflux of contrast was noted into esophagus (up to the level of suprasternal notch) confirming grade III gastro esophageal reflux
Mentions: GER scintigraphy [Figure 2] is an important common complication post TEF repair.[78] The study was performed using 37 MBq of 99mTc Sulfur colloid mixed in fruit juice, which was ingested by patient. Dynamic images reveal grade III GER. However, there was no aspiration into both lungs at 4 h delayed images. Incidentally an abnormal focus of tracer accumulation was seen in dynamic and delayed images at the carinal level, which correlates to a site of esophageal out pouching (EOP). Barium swallow [Figure 3] was subsequently performed, which showed smooth transit of barium through the esophagus thus confirming the absence of any esophageal atresia. There was evidence of small contrast filled out pouching at the level of carina which corresponds to the tracer accumulation at carinal level in GER scintigraphy. On distending the stomach, reflux of contrast was noted into esophagus (up to the level of suprasternal notch) confirming grade III GER.

Bottom Line: Diagnosis of VACTERL association is done only when at least three of the above mentioned congenital malformations are identified in a patient.Although 80% of these cases have vertebral defects, our case is unique as patient does not have one of the commonest occuring association i.e., vertebral anomalies, but has all other associations and an additional non VACTERL brain anomaly, hitherto unreported in the literature.Finally VACTERL and non VACTERL association was considered in our patient in view of ventricular septal defect, tracheo esophageal fistula, anal atresia, renal anomaly, seizure disorder and global developmental delay due to pontocerebellar hypoplasia.

View Article: PubMed Central - PubMed

Affiliation: Department of Nuclear Medicine and PET CT, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham University, Cochin, Kerala, India.

ABSTRACT
VACTERL is a cluster of congenital malformations based on the non-random association of various congenital malformations in a single patient. Here "V" denotes vertebral defects or vascular anomalies (single umbilical artery), "A" anal atresia, "C" cardiac abnormalities, "TE" tracheoesophageal fistula, "R"renal (kidney) abnormalities and "L" for limb anomalies) It is called an association, rather than a syndrome because the complications are not pathogenetically related, tend to occur more frequently than expected and are thought to be linked to embryonic mesodermal defects. Studies have reported the coexistence of various other congenital malformations such as respiratory, cerebral anomalies, which are frequently referred as non-VACTERL-type of associations. Diagnosis of VACTERL association is done only when at least three of the above mentioned congenital malformations are identified in a patient. Although 80% of these cases have vertebral defects, our case is unique as patient does not have one of the commonest occuring association i.e., vertebral anomalies, but has all other associations and an additional non VACTERL brain anomaly, hitherto unreported in the literature. The other highlight of this case is although reports say that VACTERL babies with ipsilateral renal disorder have the same side limb defects, our case has a renal anomaly with no limb anomaly. Finally VACTERL and non VACTERL association was considered in our patient in view of ventricular septal defect, tracheo esophageal fistula, anal atresia, renal anomaly, seizure disorder and global developmental delay due to pontocerebellar hypoplasia.

No MeSH data available.


Related in: MedlinePlus