Spinal dysraphism, club feet, and dextrocardia with situs inversus totalis in a neonate: a rare association and review

AbstractObjectivesThe spinal dysraphism and situs inversus are a rare association. Since 1909, reports on the coincidence of malformations of the spine and gastrointestinal tract have been published. So far there is no plausible explanation for the association.Case presentationWe report a term female infant with spinal dysraphism with club feet associated with dextrocardia and situs inversus totalis. Whole genome SNP microarray analysis was normal. However, there are extended contiguous regions of allele homozygosity [>8 Mb[megabase]) observed in chromosome 6 and 14.ConclusionsWe report a rare association of spinal dysraphism and situs inversus totalis in a neonate. We review the literature. There have recently been theorized by some to in fact represent nothing more than the presence of two or more polytopic field defects, with all the anomalies present sharing a common molecular basis.

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Adult Complex Spinal Dysraphism With Situs Inversus Totalis: A Rare Association and Review

Spine ◽

10.1097/01.brs.0000158875.83200.d6 ◽

2005 ◽

Vol 30 (8) ◽

pp. E225-E228 ◽

Cited By ~ 8

Author(s):

Srinivas Dwarakanath ◽

Ashish Suri ◽

Ajay Garg ◽

Ashok Kumar Mahapatra ◽

Veer Singh Mehta

Keyword(s):

Situs Inversus ◽

Spinal Dysraphism ◽

Situs Inversus Totalis ◽

Rare Association

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Robotic-assisted proximal gastrectomy using the double-flap technique for early gastric cancer with situs inversus totalis: a case report

Surgical Case Reports ◽

10.1186/s40792-021-01262-z ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Atsushi Takeno ◽

Toru Masuzawa ◽

Shinsuke Katsuyama ◽

Kohei Murakami ◽

Kenji Kawai ◽

...

Keyword(s):

Gastric Cancer ◽

Situs Inversus ◽

Autosomal Recessive ◽

Intraoperative Complications ◽

Proximal Gastrectomy ◽

Situs Inversus Totalis ◽

Upper Body ◽

Robot Assisted ◽

Case Presentation ◽

First Case

Abstract Background The robotic system has been applied in the treatment of gastric cancer (GC), and the procedure has been found to be safe and feasible. Situs inversus totalis (SIT) is a relatively rare autosomal recessive congenital anomaly. We successfully performed robot-assisted proximal gastrectomy (RAPG) and handsewn double-flap esophagogastrostomy for GC in a patient with SIT. Case presentation A 71-year-old woman was referred to us with an asymptomatic ulcerative lesion in the upper body of the stomach. Computed tomography revealed that she had SIT. She was diagnosed with cT1bN0M0, cStageIA gastric cancer. RAPG with lymph node dissection and handsewn double-flap esophagogastrostomy was performed. Robotic surgery enabled the surgeon to perform the surgery without changing his position and experiencing any confusion resulting from the patient’s reversed anatomy. It took 448 min, and no intraoperative complications occurred. Her postoperative course was uneventful; she was discharged on postoperative day 10. The final pathologic report showed pT1b1N0M0, pStage IA. Conclusions This is the first case describing RAPG with handsewn double-flap esophagogastrostomy for a SIT patient with early GC.

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Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background

BMJ Case Reports ◽

10.1136/bcr-2021-241906 ◽

2021 ◽

Vol 14 (5) ◽

pp. e241906

Author(s):

Husain Abdulameer Abdali ◽

Joseph Rivendra Duddu ◽

Mohamed Jawad Mubarak ◽

Almughirah Salahaldin Mohamed

Keyword(s):

Congenital Anomaly ◽

Causative Agent ◽

Situs Inversus ◽

Congenital Anomalies ◽

Genetic Background ◽

Cervical Vertebrae ◽

Situs Inversus Totalis ◽

Rare Congenital Anomaly ◽

Rare Association ◽

High Possibility

Klippel-Feil syndrome (KFS) is a rare congenital anomaly in forming the cervical vertebrae resulting in the fusion of two or more of the vertebrae. KFS is associated with many congenital anomalies, some of which are common and well known. Here, we report a child with an extremely rare association of KFS with situs inversus totalis (SIT). Both KFS and SIT are genetically heterogeneous and their co-occurrence suggests a high possibility of sharing the same underlying causative agent. Here, we review the genetic background that is known for these two conditions in the literature.

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Stomach (Gastrointestinal Stromal Tumor)GIST in a Patient of Situs Inversus Totalis: A Rare Association and Brief Case Report

Journal of Clinical Epigenetics ◽

10.21767/2472-1158.100076 ◽

2017 ◽

Vol 03 (04) ◽

Cited By ~ 1

Author(s):

RA Hvastunov ◽

VV Ermilov ◽

Agarwal A ◽

Mouhammed HA ◽

YC Yang

Keyword(s):

Case Report ◽

Gastrointestinal Stromal Tumor ◽

Situs Inversus ◽

Situs Inversus Totalis ◽

Stromal Tumor ◽

Rare Association

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Simplified Technique of Conventional Cholecystectomy in a Patient with Situs Inversus Totalis: A Case Report from Nepal

Journal of Nepalgunj Medical College ◽

10.3126/jngmc.v19i1.40443 ◽

2022 ◽

Vol 19 (1) ◽

pp. 109-110

Author(s):

Suresh Kumar Nag

Keyword(s):

Situs Inversus ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Situs Inversus Totalis ◽

Gallbladder Stone ◽

Case Presentation ◽

Obese Female ◽

Normal Gallbladder ◽

Upper Abdominal ◽

Left Subcostal Incision

Introduction: Situs inversus is a rare autosomal recessive disorder occurring in 1:5,000 to 1:20,000 indiviuals. Cholecystectomy is a standard treatment for symptomatic gallbladder stone. We report a case of cholelithiasis in patient with inversus totalis who underwent cholecystectomy. Case presentation: A 48 years old obese female patient with dextrocardia and hypertention presented with a recurrent left upper abdominal pain for two years. Ultrasound abdomen showed gallbladder stone. Conventional cholecystectomy was done with a small left subcostal incision. The postoperative period was uneventful and the patient was discharged on 3rd post operative day. Conclusion: Cholecystectomy is the treatment of choice in patients with a left sided gallbladder stone, like in normal gallbladder and it is safe.

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