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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

(a) Chest X-ray (PA view) showed bilateral infiltrates with collapse consolidation of right lower lobe. (b) Computed tomography chest shows centrilobular nodules with tree-in-bud appearance in right lower lobes and anterior segment of right upper lobe (shown with arrows). Right hilar lymphadenopathy was present. Collapse with consolidation of right lower lobe with active bronchiolitis of right lower and anterior segment of right upper lobe was noted
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Figure 1: (a) Chest X-ray (PA view) showed bilateral infiltrates with collapse consolidation of right lower lobe. (b) Computed tomography chest shows centrilobular nodules with tree-in-bud appearance in right lower lobes and anterior segment of right upper lobe (shown with arrows). Right hilar lymphadenopathy was present. Collapse with consolidation of right lower lobe with active bronchiolitis of right lower and anterior segment of right upper lobe was noted

Mentions: Patient now presented to pediatrics department with intermittent fever, cough of 20 days duration with worsening breathlessness since 2 days. Cough was wet in nature, more during the night. Chest X-ray showed bilateral infiltrates with collapse consolidation of right lower lobe [Figure 1a]. Computed tomography of chest [Figure 1b] showed centrilobular nodules with the tree-in-bud appearance in the right lower lobes and anterior segment of right upper lobe (shown with arrows). Right hilar lymphadenopathy was also noted. Thus, a diagnosis of collapse with consolidation of right lower lobe with active bronchiolitis of right lower and anterior segment of right upper lobe was made. To ascertain the cause of respiratory infection, gastro esophageal reflux (GER) study was advised.


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

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

(a) Chest X-ray (PA view) showed bilateral infiltrates with collapse consolidation of right lower lobe. (b) Computed tomography chest shows centrilobular nodules with tree-in-bud appearance in right lower lobes and anterior segment of right upper lobe (shown with arrows). Right hilar lymphadenopathy was present. Collapse with consolidation of right lower lobe with active bronchiolitis of right lower and anterior segment of right upper lobe was noted
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 1: (a) Chest X-ray (PA view) showed bilateral infiltrates with collapse consolidation of right lower lobe. (b) Computed tomography chest shows centrilobular nodules with tree-in-bud appearance in right lower lobes and anterior segment of right upper lobe (shown with arrows). Right hilar lymphadenopathy was present. Collapse with consolidation of right lower lobe with active bronchiolitis of right lower and anterior segment of right upper lobe was noted
Mentions: Patient now presented to pediatrics department with intermittent fever, cough of 20 days duration with worsening breathlessness since 2 days. Cough was wet in nature, more during the night. Chest X-ray showed bilateral infiltrates with collapse consolidation of right lower lobe [Figure 1a]. Computed tomography of chest [Figure 1b] showed centrilobular nodules with the tree-in-bud appearance in the right lower lobes and anterior segment of right upper lobe (shown with arrows). Right hilar lymphadenopathy was also noted. Thus, a diagnosis of collapse with consolidation of right lower lobe with active bronchiolitis of right lower and anterior segment of right upper lobe was made. To ascertain the cause of respiratory infection, gastro esophageal reflux (GER) study was advised.

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