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Mens inversus in corpore inverso? Language lateralization in a boy with situs inversus totalis.

ABSTRACT: Situs inversus totalis is a rare condition where the visceral organs are organized as a mirror image of default organ position. In this study we picture the co-development between brain and visceral organs in a case of situs inversus totalis from a fetal stage to adolescence and compare our findings to an age-, gender-, and education-matched control with normal position of thoracic and abdominal organs. We show that in this case of situs inversus, functional and structural brain lateralization do not coincide with visceral organ situs. Furthermore, cognitive development in situs inversus is normal. To our knowledge, this is the first report of antenatal cerebral origins of structural and functional brain asymmetry in a case of situs inversus totalis.

SUBMITTER: Schuler AL

PROVIDER: S-EPMC6192509 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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Mens inversus in corpore inverso? Language lateralization in a boy with situs inversus totalis.

Schuler Anna-Lisa AL Kasprian Gregor G Schwartz Ernst E Seidl Rainer R Diogo Mariana C MC Mitter Christian C Langs Georg G Prayer Daniela D Bartha-Doering Lisa L

Brain and language 20170711

Situs inversus totalis is a rare condition where the visceral organs are organized as a mirror image of default organ position. In this study we picture the co-development between brain and visceral organs in a case of situs inversus totalis from a fetal stage to adolescence and compare our findings to an age-, gender-, and education-matched control with normal position of thoracic and abdominal organs. We show that in this case of situs inversus, functional and structural brain lateralization d ...[more]

PMID: 28709112

Similar Datasets

Biliary stone in patient with situs inversus totalis.

Project description:Introduction and significanceSitus inversus totalis is characterized by the complete transposition of thoracic and abdominal viscera. Individuals can live asymptomatically with this condition; however, it may be associated with certain abnormalities of the organs involved.Case presentationHerein, we present a case of a situs inversus totalis woman presented with choledocholithiasis. Elective laparoscopic cholecystectomy was performed on the patient with intraoperative modifications. The patient was discharged in a healthy condition.Clinical discussionSeveral case reports have documented the typical presentation of cholelithiasis, which is characterized by pain in the left upper quadrant and epigastric region. Our patient exhibited similar symptoms and was diagnosed with choledocholithiasis.ConclusionsDiagnostic and therapeutic management of morbidities in SIT individuals can be performed with recommended modifications that can lead to favorable outcomes.

| S-EPMC11332169 | biostudies-literature

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

Project description:We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amino acids located in the second NDK domain of the protein and segregated with the defective lateralization in the family. NME7 is an important developmental gene, and NME7 protein is a component of the ?-tubulin ring complex. This mutation is predicted to affect the interaction of NME7 protein with this complex as it deletes the amino acids crucial for the binding. SIT associated with homozygous deletion in our patients is in line with Nme7(-/-) mutant mice phenotypes consisting of congenital hydrocephalus and SIT, indicating a novel human laterality patterning role for NME7. Further cases are required to elaborate the full human phenotype associated with NME7 mutations.

| S-EPMC6066188 | biostudies-literature

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

Project description:Motile cilia dysfunction causes primary ciliary dyskinesia (PCD), situs inversus totalis (SI), and a spectrum of laterality defects, yet the prevalence of laterality defects other than SI in PCD has not been prospectively studied.In this prospective study, participants with suspected PCD were referred to our multisite consortium. We measured nasal nitric oxide (nNO) level, examined cilia with electron microscopy, and analyzed PCD-causing gene mutations. Situs was classified as (1) situs solitus (SS), (2) SI, or (3) situs ambiguus (SA), including heterotaxy. Participants with hallmark electron microscopic defects, biallelic gene mutations, or both were considered to have classic PCD.Of 767 participants (median age, 8.1 years, range, 0.1-58 years), classic PCD was defined in 305, including 143 (46.9%), 125 (41.0%), and 37 (12.1%) with SS, SI, and SA, respectively. A spectrum of laterality defects was identified with classic PCD, including 2.6% and 2.3% with SA plus complex or simple cardiac defects, respectively; 4.6% with SA but no cardiac defect; and 2.6% with an isolated possible laterality defect. Participants with SA and classic PCD had a higher prevalence of PCD-associated respiratory symptoms vs SA control participants (year-round wet cough, P < .001; year-round nasal congestion, P = .015; neonatal respiratory distress, P = .009; digital clubbing, P = .021) and lower nNO levels (median, 12 nL/min vs 252 nL/min; P < .001).At least 12.1% of patients with classic PCD have SA and laterality defects ranging from classic heterotaxy to subtle laterality defects. Specific clinical features of PCD and low nNO levels help to identify PCD in patients with laterality defects.ClinicalTrials.gov; No.: NCT00323167; URL: www.clinicaltrials.gov.

| S-EPMC4219335 | biostudies-literature

Pulmonary vein and cavotricuspid isthmus ablation in situs inversus totalis.

Project description:Pulmonary vein isolation (PVI) with cavotricuspid isthmus (CTI) ablation is feasible in patients with situs inversus totalis. Orientation challenges are improved with the use of electroanatomical mapping prior to transseptal puncture. Care must be taken to note the opposing anatomic locations of important structures such as the left atrial appendage, descending aorta, and phrenic nerve.

| S-EPMC4736523 | biostudies-other

Partial sternotomy coronary surgery with triple-vessel disease in dextrocardia and situs inversus totalis.

Project description:Dextrocardia associated with situs inversus totalis is a rare congenital condition. A small number of cases with these conditions have been reported who underwent myocardial revascularization via the on-pump or off-pump techniques. Among them, only 1 patient with dextrocardia and situs inversus totalis was reported to have the procedure performed with minimally invasive coronary surgery via a right anterior small thoracotomy. However, the case was a single-vessel disease and only one graft was achieved. We describe the case of a 65-year old female patient with triple-vessel obstructive coronary diseases who was successfully revascularized with three grafts using a minimally invasive technique. This was achieved via partial sternotomy and employing off-pump coronary artery bypass grafting.

| S-EPMC3686400 | biostudies-literature

Laparoscopic biliopancreatic diversion for a morbidly obese patient with situs inversus totalis: Case report.

Project description:INTRODUCTION:Situs inversus is a rare congenital anomlay in which the thoracic and abdominal organs are sited on the opposite side to that of normal anatomy. Its etiology is still unknown. It is classified into situs inversus partialis and situs inversus totalis. It is discovered incidentally in most cases. Any surgical intervention for such patients may encounter intra-operative technical difficulties due to anatomical differences, particularly if a laparoscopic approach is adopted, as in bariatric surgeries where the obesity itself opposes an added surgical challenge. CASE PRESENTATION:A female patient with a BMI of 52.1?Kg/m2 was being prepared for biliopancreatic diversion. She was diagnosed incidentally as having situs inversus totalis during the preoperative evaluation. She underwent an uneventful laparoscopic biliopancreatic diversion. She was followed up regularly in the bariatric surgery clinic for 9 years. Her last BMI was 29?Kg /m2 with no signs or symptoms of metabolic complications. CONCLUSION:This case report demonstrates that biliopancreatic diversion can be done safely in morbidly obese patients with situs inversus by an experienced bariatric surgeon in a specialized well-equipped center.

| S-EPMC6047057 | biostudies-literature

Just flip it!-CRT implantation in a patient with dextrocardia and situs inversus totalis.

Project description:Implantation of a cardiac resynchronization therapy (CRT) device in patients with congenital heart disease may be challenging because of the particular underlying anatomy. We present the case of a right-sided transvenous implantation of a dual-chamber CRT-D device in a patient with situs inversus totalis and mirror image dextrocardia. To facilitate our anatomic orientation and to overcome unusual hand-eye coordination problems, we decided to flip the fluoroscopic image projection by 180° (right-left), creating the optical impression of a "normalized" heart position (levocardia). This simple approach allowed us to successfully implant the device using a conventional left-sided CRT delivery system.

| S-EPMC6288602 | biostudies-literature

Endoscopic submucosal dissection of early gastric cancer in a patient with situs inversus totalis.

Project description: Not available

| S-EPMC7426708 | biostudies-literature

Left-sided perforated appendicitis in a patient with situs inversus totalis, a case report.

Project description:Situs inversus, an uncommon disorder, causes the orientation of asymmetric organs to be opposite to that of normal anatomy. It can be either partial, affecting only the thoracic or abdominal cavities, or full, involving the transposition of both the thoracic and abdominal organs. A 31-year-old Ethiopian male patient presented with migratory abdominal pain in the left lower quadrant for 3 days. Associated with the pain, he experienced symptoms of nausea, vomiting of ingested matter, and loss of appetite. Investigations were consistent with left-sided appendicitis with situs inversus totalis. Therefore, the patient was operated on and discharged with no perioperative complications. Appendicitis is a rare cause of left lower quadrant pain. In order to reduce the delay in patient treatment and avoidable perioperative complications, emergency physicians, radiologists, and surgeons must become more knowledgeable about situs inversus and left side appendicitis.

| S-EPMC11307355 | biostudies-literature

Congenital Duodenal Obstruction, Situs Inversus Totalis, and Gastric Perforation in a Neonate.

Project description:We report a rare case of incomplete congenital duodenal obstruction (Type 1 duodenal atresia) in association with situs inversus totalis presenting with gastric perforation in a neonate. The infantogram was suggestive of perforation with air under diaphragm along with dextrocardia. On exploration, a pin point perforation at fundus near lesser curvature along with situs inversus was noted. Primary closure of gastric perforation was done. Patient was then discharged on full breast feeds but was readmitted with intolerance to feeds and recurrent bilious vomiting. Further, upper GI contrast study revealed partial duodenal obstruction. On re-exploration, duodenal web with central aperture was seen and duodeno-duodenostomy was done.

| S-EPMC5538601 | biostudies-other

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