A unique sonographic presentation of prenatal volvulus associated with malrotation.
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ABSTRACT:
SUBMITTER: Green T
PROVIDER: S-EPMC8259922 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:A 46-year-old Chinese woman with a history of cholecystectomy and appendicectomy presented to the emergency department with symptoms of intestinal obstruction. Physical examination revealed central abdominal tenderness but no clinical features of peritonism. Plain radiography of the abdomen revealed a grossly distended large bowel loop with the long axis extending from the right lower abdomen toward the epigastrium, and an intraluminal air-fluid level. These findings were suspicious for an acute caecal volvulus, which was confirmed on subsequent contrast-enhanced computed tomography (CT) of the abdomen and pelvis. CT demonstrated an abnormal positional relationship between the superior mesenteric vein and artery, indicative of an underlying intestinal malrotation. This case highlights the utility of preoperative imaging in establishing the diagnosis of an uncommon cause of bowel obstruction. It also shows the importance of recognising the characteristic imaging features early, so as to ensure appropriate and expedient management, thus reducing patient morbidity arising from complications.
| S-EPMC5331133 | biostudies-literature
Project description:Malrotation and midgut volvulus are surgical emergencies that commonly occur within the first month of life. The classic symptom is acute bilious vomiting, while nonspecific symptoms such as recurrent abdominal pain may be present in older children. Malrotation can be associated with duodenal obstruction caused by an abnormal peritoneal fibrous band or congenital anomalies, such as an annular pancreas or a preduodenal portal vein. Volvulus can lead to bowel ischemia and a life-threatening condition, thus prompt and accurate diagnosis is crucial. Diagnosis can be made through upper gastrointestinal series, ultrasonography, and CT, with ultrasonography being preferred as a screening tool due to its rapid and accurate diagnosis, without radiation exposure, in children. This pictorial essay discusses the key imaging findings and diagnostic approaches for malrotation and midgut volvulus, as well as diagnostic pitfalls based on actual cases.
| S-EPMC10864163 | biostudies-literature
Project description:Introductionand importance: Caecal volvulus represents 30% of colonic volvulus. It happens due to torsion or hyperflexion of a hypermobile caecum. Usually it is secondary to an axial rotation of the caecum and the ileum around the mesentery. On the other hand Intestinal malrotation occurs due to incomplete or faulty rotation and fixation of the gut during fetal life. The occurrence of these two anomalies together is scarse which makes this case report interesting.Case presentationA 75 year old man with medical history of terminal kidney failure, presented to the emergency room with an intestinal obstruction syndrome. On examination the patient had a distended abdomen with tenderness in the left upper quadrant. Biology found an important biological inflammatory syndrome with hyperleukocytosis and elevated CRP. Plain X-ray of the abdomen in erect posture showed an air fluid colonic level in the left hypochondrium. CT scan showed signs of caecal volvulus with intestinal malrotation. A brief reanimation and nasogastric aspiration couldn't solve the problem therefore emergency laparotomy was needed ileocaecal resection was performed associated with LADD's procedure in order to treat both anomalies and prevent further gut volvulus.Clinical discussionDespite it's rareness, caecul volvulus represents the second cause of large bowel volvulus just behind sigmoid volvulus. Intestinal malrotation in adults subjects is estimated to occur in 0.2-0.5%.The uniqueness of our case is that these two anomalies were associated in such a way that it made both the diagnosis and the therapy even more difficult. Abdominal CT has become mandatory for pre-operative diagnosis of intestinal volvulus. Surgery is the gold standard treatment for caecal volvulus. The usual options are manual detorsion, carcopexy, caecostomy and colectomy.ConclusionThis case reports a rare association of a caecum volvulus with intestinal malrotation that emphasis the place of modern technologies such as CT scan in order to achieve correct preoperative diagnosis. We also describe our approach to this uncommon surgical emergency in order to provide an efficient treatement.
| S-EPMC8121876 | biostudies-literature
Project description:ContextDespite the advantages of ultrasound (US), upper gastrointestinal contrast series (UGI) remains the first-line diagnostic modality in the diagnosis of midgut malrotation and volvulus in children.ObjectiveEvaluate the diagnostic accuracy of US in the diagnosis of malrotation with or without volvulus in children and adolescents aged 0-21 years, compared with the reference standard (diagnosis by surgery, UGI, CT, MRI, and clinical follow-up individually or as a composite).Data sourcesWe searched the electronic databases Ovid-MEDLINE, Embase, Scopus, CINAHL, and the Cochrane library in October 2019 and updated on 18 August 2020.Study selectionStudies evaluating the diagnostic performance of US for diagnosis of midgut malrotation with or without volvulus in children (0-21 years).Data extraction and synthesisThe data were extracted independently by two authors and a bivariate model was used for synthesis.ResultsMeta-analysis of 17 cohort or cross-sectional studies and 2257 participants estimated a summary sensitivity of 94% (95% CI 89% to 97%) and summary specificity of 100% (95% CI 97% to 100%) (moderate certainty evidence) for the use of US for the diagnosis of malrotation with or without midgut volvulus compared with the reference standard. Subgroup analysis and meta-regression revealed better diagnostic accuracy in malrotation not complicated by volvulus, in the neonatal population and enteric fluid administration before US.ConclusionsModerate certainty evidence suggests excellent diagnostic accuracy and coupled with the advantages, a strong case exists for the use of abdominal US as the first-line diagnostic test for suspected midgut malrotation with or without volvulus in children and adolescents.
| S-EPMC8526644 | biostudies-literature
Project description: Not available
| S-EPMC9338359 | biostudies-literature
Project description:Backgroundsubacromial-subdeltoid chronic bursitis is one of the main causes of shoulder pain syndrome. There are various causes of shoulder pain syndrome including chronic bursitis. The sonographic appearances of chronic bursitis vary from patient to patient, depending upon the underlying cause. However, rice bodies are the rare sonographic presentation among them. Rice bodies can be associated with atypical mycobacterial tenosynovitis, bursitis, mycobacterium tuberculosis and infections, but very rarely occur in the chronic subacromial-subdeltoid bursitis. Its unique sonographic presentation makes it easy to be diagnosed confidently, but it is difficult to be recognized, interpret and distinguish from other pathologies due to its rare occurrence. It is therefore intended to present this rare and interesting sonographic presentation of chronic subacromial-subdeltoid bursitis as a case report.Case-presentationA 36-year-old male suffering from swelling and pain on his left shoulder for 6 months came to the clinic with Grade-3 impingement syndrome. Free-floating echogenic rice bodies were identified in the subacromial-subdeltoid bursa during ultrasound examination, which was also confirmed with Magnetic resonance imaging (MRI) and serological tests of the specimen after surgery.ConclusionThe unique sonographic presentation of rice bodies in the chronic subacromial-subdeltoid bursitis makes it easy to be diagnosed confidently, but it is difficult to be recognized, due to its rare occurrence.
| S-EPMC6643005 | biostudies-literature
Project description:Popliteal pterygium syndrome (PPS) is an extremely rare autosomal dominant disorder, characterized by the cleft palate with or without cleft lip, limbs abnormalities with highly characteristic features of popliteal webbing, syndactyly, and genital abnormalities and nail anomalies. Prenatal diagnosis of PPS has been extremely rare. We describe a unique case of fetal PPS at 20 weeks of gestation. The diagnosis of PPS was based on the ultrasound findings of bilateral popliteal webbings, extending from posterior aspects of the upper thighs through the lower legs, resulting in restriction in knee extension, bilateral equinovarus feet with syndactyly, ambiguous genitalia and the grooved lip. Anatomical structures were otherwise normal. Trio whole-exome sequencing revealed a de novo heterozygous IRF6 gene mutation in the fetus, confirming the diagnosis with PPS. In conclusion, popliteal webbing or combination of facial cleft or cleft variants and bilateral abnormal postures of the lower limbs is suggestive of PPS and genetic diagnosis should be warranted.
| S-EPMC8534560 | biostudies-literature
Project description:BackgroundWolf-Hirschhorn syndrome (WHS) is a common genetic condition and prenatal diagnosis is difficult due to heterogeneous expression of this syndrome and rather non-specific ultrasound findings. Objective of this study was to examine the prenatal ultrasound findings in fetuses with Wolf-Hirschhorn syndrome (WHS).MethodsRetrospective assessment of 18 pregnancies that were seen at three tertiary referral centers (Universities of Bonn, Tuebingen and Nuernberg / Germany). Findings of prenatal ultrasound examinations, genetic results and outcome were compared. Additionally, findings of our study were compared to previous small case series from the literature and then compared to data on postnatal frequencies and abnormalities in affected patients.ResultsMedian gestational age at the time of examination was 23 + 1 weeks' (range: 13 + 4 to 29 + 1 weeks') with female-to-male ratio of > 2.5:1. Most frequent ultrasound findings were facial abnormalities, symmetric IUGR and microcephaly that presented in 94.4, 83.3 and 72.2% of cases, respectively. The combination of microcephaly and hypoplastic nasal bone was a particularly characteristic finding. Growth retardation presented in all fetuses > 20 weeks, but not below. Other frequent abnormalities included cardiac anomalies in 50 and single umbilical artery (SUA) in 44.4% of fetuses.ConclusionWHS should be considered in the presence of symmetric IUGR together with microcephaly, hypoplastic nasal bone and facial abnormalities on prenatal ultrasound. Genetic testing by chromosomal microarray analysis (CMA) is strongly recommended in this context.
| S-EPMC9013087 | biostudies-literature
Project description:BACKGROUND:Fetal double aortic arch (DAA) malformation is a rare congenital heart disease with few reported cases in the literature. We aimed to investigate the characteristics of prenatal ultrasound and postnatal computed tomography angiography (CTA) of DAA and to describe the associated anomalies and clinical outcomes to improve prenatal diagnosis and assist in perinatal management. METHODS:The obstetric ultrasound imaging databases of seven tertiary referral centers were reviewed retrospectively to identify fetuses with a prenatal diagnosis of DAA between January 2013 and December 2018. Ultrasonographic findings, associated anomalies, genetic abnormalities, postnatal CTA images, and long-term postnatal outcomes were evaluated. RESULTS:A total of 36 cases out of 40 prenatally diagnosed DAA fetuses were confirmed by postnatal diagnosis (fetal autopsy, CTA, and surgery). In this cohort of 36 confirmed cases, 24 (67%) were isolated anomalies, while 12 (33%) were associated with intracardiac or extracardiac anomalies, and 2 (6%) had a 22q11.2 chromosome deletion. Among nine cases of pregnancy termination with a fetal autopsy, 7 had other abnormalities. Among the remaining 27 live births, 16 (59%) were asymptomatic and 11 (41%) received surgical treatment due to tracheal or esophageal compression symptoms, all with satisfactory outcomes. Prenatal echocardiography showed that DAA was mainly characterized by a bifurcation of the ascending aorta into the right and left aortic arch and the formation of a complete O-shaped vascular ring around the trachea on the three-vessel tracheal view. A variant in the aortic arch branching pattern was found for the first time. The airway obstruction, branching pattern, and atretic arch of DAA were clearly shown by postnatal CTA. CONCLUSIONS:Fetal DAA has unique features on prenatal echocardiography and postnatal CTA, and systematic prenatal examination and timely postnatal CTA evaluation are required. A certain proportion of intracardiac and extracardiac abnormalities are associated with DAA, but the probability of chromosome abnormalities is low, especially for isolated DAA.The clinical outcomes of isolated DAA are favorable, even if surgery is performed due to symptoms. Determining whether other malformations or chromosomal anomalies exist is crucial for prognosis evaluation and prenatal counseling.
| S-EPMC7552480 | biostudies-literature
Project description:OBJECTIVE:To describe the prenatal sonographic features and maternal biochemical markers in triploid pregnancies and to assess whether prenatal phenotype can determine genetic origin. METHODS:We performed a retrospective multicenter cohort study that included all triploid pregnancies diagnosed between 2000 and 2018 in two Fetal Medicine Units in Amsterdam. Fetal growth, presence of structural anomalies, extra-fetal anomalies, and maternal biochemical markers were retrieved. Asymmetrical intrauterine growth restriction was diagnosed when the head-to-abdominal circumference (HC/AC) ratio was >95th centile. Parental origin was analyzed via molecular genotyping in 46 cases (38.3%). RESULTS:One hundred and twenty triploid pregnancies were identified, of which 86 cases (71.6%) were detected before 18?weeks of gestation. Triploidy of maternal origin was found in 32 cases (69.6%) and was associated with asymmetrical growth restriction, a thin placenta, and low pregnancy-associated plasma protein A and free beta-human chorionic gonadotrophin (?-hCG) levels. Triploidy of paternal origin was found in 14 cases (30.4%) and was associated with an increased nuchal translucency, placental molar changes, and a high free ?-hCG. Prospective prediction of the parental origin of the triploidy was made in 30 of the 46 cases based on phenotypical ultrasound presentation, and it was correct in all cases. CONCLUSION:Asymmetrical growth restriction with severe HC/AC discrepancy is pathognomonic of maternal triploidy. Placental molar changes indicate a paternal triploidy. Moreover, triploidy can present with an abnormal first trimester combined test, with serum levels on the extreme end. When available results of maternal serum markers can support the diagnosis of parental origin of the triploidy, an accurate assessment of the parental origin based on prenatal sonographic features is possible, making DNA analysis redundant.
| S-EPMC7317806 | biostudies-literature