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Radiology Case Reports Jul 2022Polysplenia Syndrome is a rare condition that refers to the presence of 2 or more spleens in association with other thoracoabdominal abnormalities. Here, we report a...
Polysplenia Syndrome is a rare condition that refers to the presence of 2 or more spleens in association with other thoracoabdominal abnormalities. Here, we report a case of a 13-year-old girl who presented with acute lower abdominal pain and was diagnosed with polysplenia syndrome after obtaining a CT scan of her chest, abdomen and pelvis. Diagnostic imaging also revealed the presence of a wandering spleen hanging in the lower abdomen and upper pelvic cavity and showing signs of infarction. The patient underwent splenectomy afterward and splenic torsion was confirmed intraoperatively. To the best of our knowledge, this was the first reported case of wandering spleen torsion in a patient with polysplenia syndrome. Physicians should keep in mind the possibility of a wandering spleen torsion presenting in various locations when dealing with polysplenia syndrome patients complaining of abdominal pain.
PubMed: 35570876
DOI: 10.1016/j.radcr.2022.04.009 -
The American Journal of Cardiology Aug 2014Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the...
Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS from 1995 to 2011. Of 154 fetuses with HS, 61 (40%) had asplenia syndrome (ASP) and 93 (60%) had polysplenia syndrome (PSP). In the ASP group, 22 (36%) patients were elected for termination of pregnancy, 4 (10%) had fetal death, and 35 of 39 (90%) continued pregnancies were live born. In the PSP group, 12 (13%) patients were elected for termination of pregnancy, 5 (6%) had fetal death (4 with bradyarrhythmia), and 76 of 81 (94%) continued pregnancies were live born. Bradyarrhythmia was the only predictor of fetal death. In the live-born ASP group, 43% (15 of 35) died, 7 because of pulmonary vein stenosis, 4 postoperatively, and 4 because of noncardiac causes. In the live-born PSP group, 13% (10 of 76) died, 5 postoperatively, 2 from bradyarrhythmia, 1 from a cardiac event, and 2 from noncardiac causes. Pulmonary vein stenosis and noncardiac anomalies were independent risk factors for postnatal death. Only 8% of ASP patients achieved biventricular circulation, compared with 65% of PSP patients. In the live-born cohort, the 5-year survival rate was 53% for ASP and 86% for PSP. In conclusion, most PSP patients are currently alive with biventricular circulation in contrast with few ASP patients. Bradyarrhythmia was the only predictor of fetal death. Pulmonary vein stenosis and noncardiac anomalies were predictors of postnatal death.
Topics: Adult; Echocardiography; Female; Fetal Death; Fetal Diseases; Follow-Up Studies; Heterotaxy Syndrome; Humans; Infant; Infant Mortality; Infant, Newborn; Male; Massachusetts; Pregnancy; Pregnancy Outcome; Prognosis; Retrospective Studies; Time Factors; Ultrasonography, Prenatal
PubMed: 24996551
DOI: 10.1016/j.amjcard.2014.05.042 -
Clinical Journal of Gastroenterology Apr 2022The present study aims to report a rare case of obstructive choledocholithiases found in an elderly female with heterotaxy syndrome (HS) with polysplenia, and to review... (Review)
Review
Cholangitis secondary to obstructive choledocholithiases in an elderly woman with heterotaxy syndrome with polysplenia: report of a case and brief review of the literature.
The present study aims to report a rare case of obstructive choledocholithiases found in an elderly female with heterotaxy syndrome (HS) with polysplenia, and to review the available literature on hepatobiliary pathologies associated with this syndrome. We present the case of an 82-year-old female patient with multiple comorbidities who presented to our hospital with abdominal pain and jaundice. An abdominal ultrasound and subsequent computed tomography showed several obstructive choledocholithiases. Incidentally, an abnormal visceral arrangement consistent with HS with polysplenia was observed, including midline liver, semi-annular pancreas, intestinal malrotation, preduodenal portal vein and other vascular anomalies. Accordingly, the patient was diagnosed with cholangitis secondary to obstructive choledocholithiases and HS with polysplenia. She was admitted to the hospital for endoscopic retrograde cholangiopancreatography after medical stabilization. Unfortunately, her condition rapidly worsened and died a few hours after hospitalization due to septic shock. Only one case of choledocholithiases in HS has been previously reported in the literature. It is unclear whether the abnormal arrangement of abdominal organs may have a significant role in the development of this complication. Although biliary drainage might be hindered in the presence of anatomical variants such as (semi-)annular pancreas, intestinal malrotation and preduodenal portal vein, further studies are needed to determine if there is an association between these anomalies and the development of choledocholithasis.
Topics: Aged; Aged, 80 and over; Cholangitis; Digestive System Abnormalities; Female; Heterotaxy Syndrome; Humans; Pancreas; Pancreatic Diseases
PubMed: 35066797
DOI: 10.1007/s12328-021-01574-5 -
Cureus Oct 2021Heterotaxy syndrome (HS) or situs ambiguous refers to the abnormal arrangement of viscera across the body axis, and abnormalities arise depending on the isomerism of...
Heterotaxy syndrome (HS) or situs ambiguous refers to the abnormal arrangement of viscera across the body axis, and abnormalities arise depending on the isomerism of the right or left atrial appendage. The cause remains unexplained and is attributed to a combination of genetic mutations and environmental factors. It is a rare condition and may remain undiagnosed for a long time. In this report, we aim to highlight an unusual presentation and aggravation of an infection due to the underlying isomerism of the left atrial appendage. We discuss the case of a female patient who presented with symptoms of fever and cough. The patient underwent prolonged antibiotic treatment, and her recovery was slow. The presence of bilobed lungs, vertical left-bronchus, and polysplenia on CT scan explained the left-sided aspiration pneumonia. The hypofunctioning spleen (polysplenia) caused her to have a weak immunological response, necessitating prolonged antibiotic use. She was followed up over time and had a recurrence of pneumonia within a few months. The condition is associated with high morbidity and mortality, and the role of early diagnosis and reporting to prevent complications is paramount. The recurrent pneumonia observed in the patient also raises questions related to long-term antibiotic use and immunization in the case of polysplenia in this patient population.
PubMed: 34858743
DOI: 10.7759/cureus.19055 -
Pediatrics and Neonatology Apr 2024Previous studies on congenital heart diseases (CHD) associated with dextrocardia were based on selective patient databases and did not reflect the full spectrum of...
BACKGROUND
Previous studies on congenital heart diseases (CHD) associated with dextrocardia were based on selective patient databases and did not reflect the full spectrum of dextrocardia in the general population. Additionally, these studies had complex classification and presentation. Nor did these studies elaborate on the distribution of the associated CHD's complexity, the various segmental connections, and associated CHD among the four visceroatrial situs.
METHODS
We retrospectively reviewed the medical records of 211 children with primary dextrocardia. We used a segmental approach to diagnose CHD. We then analyzed and compared the distribution of the above-mentioned issues among the four visceroatrial situs.
RESULTS
Dextrocardia occurred most commonly with situs inversus (52.6%), followed by situs solitus (28.4%), asplenia (17.1%), and polysplenia (1.9%). Although some patients had a structurally normal heart (22.7%) or they were associated with simple CHD (17.5%), most patients had complex CHD (59.7%) consisting of a single ventricle (34.6%) or conotruncal anomaly (25.1%) (double-outlet right ventricle [7.6%], corrected transposition of the great arteries [6.2%], complete transposition of the great arteries [5.7%], tetralogy of Fallot [4.7%], etc.). Situs inversus or polysplenia had a higher prevalence of a structurally normal heart or associated with simple CHD, two patent atrioventricular (AV) valves connections, and biventricular AV connections. Situs solitus or asplenia had a higher prevalence of associated complex CHD, common AV valve connection, univentricular AV connection, pulmonary outflow tract obstruction, and anomalous pulmonary venous drainage.
CONCLUSION
Our study finds that situs inversus is the most common visceroatrial situs in dextrocardia. Although some patients had a structurally normal heart or were associated with simple CHD, most patients have associated complex CHD consisting of a single ventricle or conotruncal anomaly. Dextrocardia is associated with a higher incidence of complex CHD in situs solitus and asplenia groups than in situs inversus and polysplenia groups.
PubMed: 38692948
DOI: 10.1016/j.pedneo.2023.10.011 -
Surgical and Radiologic Anatomy : SRA Apr 2021Heterotaxy syndrome with polysplenia is an extremely rare congenital disorder caused by a disruption in the embryonic development that results in an abnormal arrangement...
Heterotaxy syndrome with polysplenia is an extremely rare congenital disorder caused by a disruption in the embryonic development that results in an abnormal arrangement of the abdominal and thoracic organs. We present the case of a 59-year-old female patient with invasive ductal carcinoma of the right breast (luminal A type) and CT findings of heterotaxy syndrome with polysplenia. The most remarkable anomalies identified were a left inferior vena cava draining into the hemiazygos vein, absent inferior vena cava at the thoracic level, and hepatic veins directly draining into the right atrium. Moreover, an atrial septal defect was identified, explaining the pulmonary hypertension of unknown cause previously detected in the patient. The relevance of this case lies in the unusual anatomical abnormalities found and the large patient survival, having in to account the great rate of heterotaxy syndrome mortality in the first years of life.
Topics: Bone Neoplasms; Breast Neoplasms; Carcinoma, Ductal, Breast; Chemoradiotherapy, Adjuvant; Contrast Media; Female; Heterotaxy Syndrome; Humans; Incidental Findings; Liver Neoplasms; Mastectomy, Segmental; Middle Aged; Spleen; Time Factors; Tomography, X-Ray Computed
PubMed: 32995936
DOI: 10.1007/s00276-020-02586-5 -
Clinics and Practice Jan 2018
PubMed: 29383228
DOI: 10.4081/cp.2018.1004 -
European Radiology May 2017To describe and evaluate an additional sonographic sign in the diagnosis of biliary atresia (BA), the microcyst of the porta hepatis, in comparison with previously...
OBJECTIVES
To describe and evaluate an additional sonographic sign in the diagnosis of biliary atresia (BA), the microcyst of the porta hepatis, in comparison with previously described signs.
METHODS
Ultrasound performed in 321 infants (mean age 55 days) with cholestasis were retrospectively analyzed. BA was surgically confirmed in 193 patients and excluded in 128. US evaluated gallbladder type (1: normal; 2: consistent with BA; 3: suspicious), triangular cord sign (TCS), microcyst and macrocyst, polysplenia syndrome, portal hypertension, and bile duct dilatation. T test and Pearson χ test were used to compare US signs between the two groups, followed by univariate regression analysis.
RESULTS
The highest specificity and sensitivity for BA (p < 0.001) were respectively obtained with non-visible gallbladder (100 %-13 %), macrocyst (99 %-10 %), polysplenia (99 %-11 %), microcyst (98 %-20 %), type 2 gallbladder (98 %-34 %), and TCS (97 %-30 %). Combination of signs (macro or microcyst; cyst and no bile duct dilatation; microcyst and/or TCS; type 2 gallbladder and/or cyst) provided better sensitivities (25-49 %) with similar specificities (95-98 %) (p < 0.001). On univariate analysis, the single US signs most strongly associated with BA were polysplenia (odds ratio, OR 16.3), macrocyst (OR 14.7), TCS (OR 13.4) and microcyst (OR 8).
CONCLUSIONS
Porta hepatis microcyst is a reliable US sign for BA diagnosis.
KEY POINTS
• The porta hepatis microcyst is a specific sign of biliary atresia. • It was found in 31 (16.1 %) of 193 patients with biliary atresia. • Its specificity was 98 % (p < 0.001). • High frequency transducer and color Doppler can show the porta hepatis microcyst.
Topics: Bile Duct Diseases; Biliary Atresia; Cholestasis; Cysts; Dilatation, Pathologic; Female; Gallbladder; Heterotaxy Syndrome; Humans; Hypertension, Portal; Infant; Infant, Newborn; Liver; Male; Retrospective Studies; Sensitivity and Specificity; Ultrasonography
PubMed: 27553925
DOI: 10.1007/s00330-016-4546-5 -
International Journal of Surgery Case... 2019Situs inversus, polysplenia, complex jejuna atresia are rare anomalies in isolation. Their association in a single patient is even rarer with challenges in diagnosis and...
INTRODUCTION
Situs inversus, polysplenia, complex jejuna atresia are rare anomalies in isolation. Their association in a single patient is even rarer with challenges in diagnosis and management.
PRESENTATION OF CASE
A 5 day old neonate presented with features of small bowel obstruction. Radiological investigations revealed situs inversus abdominalis with dilated proximal small bowel loops. At laparotomy, abdominal situs inversus, polysplenia, multiple jejunal atresias with apple peel appearance of the ileum with malrotation was seen.
CONCLUSIONS
The association of situs inversus, polysplenia and complex jejunal atresia is very rare. Pre-operative diagnosis of situs inversus is important for appropriate incision placement and surgical planning.
PubMed: 30861494
DOI: 10.1016/j.ijscr.2019.02.016 -
La Tunisie Medicale 2015Polysplenia syndrome is a rare malformation characterized by the association of multiple rates and other congenital anomalies dominated by cardiac, vascular, intestinal...
Polysplenia syndrome is a rare malformation characterized by the association of multiple rates and other congenital anomalies dominated by cardiac, vascular, intestinal and bile malformations. We report the observation of a patient operated in the neonatal period (3 days) for an upper intestinal obstruction with situs inversus. Surgical exploration noted the presence of multiple rates, a preduodenal vein, a biliary atresia and a duodenal atresia. The surgical procedures performed were a latero-lateral duodeno-duodenostomy and hepatoportoenterostomy of KASAI with simple immediate and delayed outcomes. The follow up was of 23 years. We recall the epidemiological characteristics of this malformative association and we discuss the role played by the prognosis of polysplenia syndrome in the evolution of biliary atresia. The diagnosis and treatment of biliary atresia are always urgent to increase the chances of success of the Kasai, and the chances of prolonged survival with native liver. However, almost all long-term survivors (even anicteric) have biliary cirrhosis, which requires lifelong follow up.
Topics: Biliary Atresia; Heterotaxy Syndrome; Humans; Infant, Newborn; Male; Rare Diseases
PubMed: 26815511
DOI: No ID Found