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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

Tc methylene diphosphonate whole body scintigraphy showed no vertebral hot spots or limb anomalies. Incidentally crossed fused ectopic kidneys were identified with suspicious hydroureter and distal obstruction (shown by arrows). Bone abnormalities reported in VACTERL cases on literature survey are polydactyl, multiple costovertebral defects and limb anomalies such as tibial aplasia/hypoplasia, clubfoot, hallucal deficiency
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Figure 4: Tc methylene diphosphonate whole body scintigraphy showed no vertebral hot spots or limb anomalies. Incidentally crossed fused ectopic kidneys were identified with suspicious hydroureter and distal obstruction (shown by arrows). Bone abnormalities reported in VACTERL cases on literature survey are polydactyl, multiple costovertebral defects and limb anomalies such as tibial aplasia/hypoplasia, clubfoot, hallucal deficiency

Mentions: 99mTc MDP, methylene diphosphonate whole body scintigraphy [Figure 4] was requested as patient also had complaints of intermittent pain in left side of chest. This scan showed normal tracer uptake in bilateral ribs and also showed no vertebral hot spots or limb anomalies. However a crossed fused ectopic kidney was noted adjacent to lower pole of the right kidney with suspicious hydroureter and distal obstruction. 99mTc DTPA (Diethylenetriaminepentacetic acid) renogram was suggested. Based on all these scintigraphic findings, a retrospective diagnosis of a VACTERL and non VACTERL association (ventricular septal defect, tracheo esophageal fistula, anal atresia, renal anomaly, pontocerebellar hypoplasia) was considered in our patient. Congenital limb and skeletal abnormalities that can be encountered are polydactyl, costovertebral defects, tibial aplasia/hypoplasia, clubfoot and hallucal deficiency which was absent in our patient.[5]


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

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

Tc methylene diphosphonate whole body scintigraphy showed no vertebral hot spots or limb anomalies. Incidentally crossed fused ectopic kidneys were identified with suspicious hydroureter and distal obstruction (shown by arrows). Bone abnormalities reported in VACTERL cases on literature survey are polydactyl, multiple costovertebral defects and limb anomalies such as tibial aplasia/hypoplasia, clubfoot, hallucal deficiency
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 4: Tc methylene diphosphonate whole body scintigraphy showed no vertebral hot spots or limb anomalies. Incidentally crossed fused ectopic kidneys were identified with suspicious hydroureter and distal obstruction (shown by arrows). Bone abnormalities reported in VACTERL cases on literature survey are polydactyl, multiple costovertebral defects and limb anomalies such as tibial aplasia/hypoplasia, clubfoot, hallucal deficiency
Mentions: 99mTc MDP, methylene diphosphonate whole body scintigraphy [Figure 4] was requested as patient also had complaints of intermittent pain in left side of chest. This scan showed normal tracer uptake in bilateral ribs and also showed no vertebral hot spots or limb anomalies. However a crossed fused ectopic kidney was noted adjacent to lower pole of the right kidney with suspicious hydroureter and distal obstruction. 99mTc DTPA (Diethylenetriaminepentacetic acid) renogram was suggested. Based on all these scintigraphic findings, a retrospective diagnosis of a VACTERL and non VACTERL association (ventricular septal defect, tracheo esophageal fistula, anal atresia, renal anomaly, pontocerebellar hypoplasia) was considered in our patient. Congenital limb and skeletal abnormalities that can be encountered are polydactyl, costovertebral defects, tibial aplasia/hypoplasia, clubfoot and hallucal deficiency which was absent in our patient.[5]

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