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Case Reports
. 2017 Jun;96(25):e7260.
doi: 10.1097/MD.0000000000007260.

VACTER syndrome with situs inversus totalis: Case report and a new syndrome

Wei Wu  1 , Zhibao Lv, Weijue Xu, Jiangbing Liu, Wei Jia
Affiliations
Case Reports

VACTER syndrome with situs inversus totalis: Case report and a new syndrome

Wei Wu et al. Medicine (Baltimore). 2017 Jun.

Abstract

Introduction: The association of situs inversus totalis (SIT) and VACTERL syndrome an extremely rare coincidence.

Patients: The patient was first diagnosed as simple SIT with lumbosacral neoplasms according to the prenatal magnetic resonance imaging (MRI) examination; however, the local hospital ignored the important to physical examination so that missed anal atresia with fistula. The patient was presented to our hospital owing to constipation for 1 week. And then, she was diagnosed as VACTER syndrome with situs inversus totalis.

Results: Anorectoplasty was performed to treat constipation, one month later, we performed intramedullary tumor resection and pathological diagnosis of ependymal cyst. Postoperative recovery was uneventful and the baby was doing well at 5-months follow up.

Conclusion: It is extremely necessary for careful physical examination and detailed auxiliary examination to each system (including echocardiography, MRI, and so on) when diagnosing SIT. Also, recognizing and understanding the spectrum of situs anomalies is important, which aids in the diagnosis of disease and accordingly plan the therapeutic interventions.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
Prenatal MRI examination revealed situs inversus totalis, lumbosacral neoplasms. MRI = magnetic resonance imaging.
Figure 2
Figure 2
Physical examination anal atresia with fistula.
Figure 3
Figure 3
Echocardiography revealed dextrocardia and atrial septal defect (II).
Figure 4
Figure 4
Chest plain film demonstrated dextrocardia.
Figure 5
Figure 5
Computed tomography (CT) revealed horseshoe kidney, peritoneal organ inversion.
Figure 6
Figure 6
Magnetic resonance imaging (MRI) showed lumbosacral neoplasms (cystic lesions), filum terminale fatty degeneration.
Figure 7
Figure 7
HE stain showed ependymal cyst.
See this image and copyright information in PMC

References

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