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The Pan African Medical Journal 2022Polysplenia syndrome (PSS) is a rare congenital disease that associates multiple spleens to other malformations, most frequently cardiac, vascular, visceral, and biliary...
Polysplenia syndrome (PSS) is a rare congenital disease that associates multiple spleens to other malformations, most frequently cardiac, vascular, visceral, and biliary malformations. Most patients with PSS die in the early neonatal period because the disease is often accompanied by serve cardiac and biliary abnormalities. However, some patients have only mild cardiovascular malformations or anomalies in the abdominal organs, which are typically diagnosed incidentally in adulthood. We report the case of a 54-year-old woman who consulted for chronic atypical diffuse abdominal pain. The clinical examination was normal. Abdominal computed tomography showed a total of 5 spleens with vascular and pancreatic malformations as part of polysplenia syndrome. Symptomatic treatment was instituted with good evolution. No specific therapeutic indication was indicated in our case discovered incidentally in adulthood.
Topics: Female; Infant, Newborn; Humans; Adult; Middle Aged; Heterotaxy Syndrome; Pancreas; Abdomen; Vascular Malformations
PubMed: 36590997
DOI: 10.11604/pamj.2022.43.77.31496 -
Clinics and Practice Jan 2018
PubMed: 29383228
DOI: 10.4081/cp.2018.1004 -
The British Journal of Radiology Nov 2011Polysplenia, as part of the heterotaxy syndrome, is a rare embryological disorder which results from failure of development of the usual left-right asymmetry of organs.... (Review)
Review
Polysplenia, as part of the heterotaxy syndrome, is a rare embryological disorder which results from failure of development of the usual left-right asymmetry of organs. It is often associated with cardiac and biliary abnormalities, which are the usual causes of death in early neonatal life. A congenitally short pancreas and abnormalities with portal vein formation, gut malrotations and inferior vena cava anomalies are known to be associated with this rare syndrome. We report a case of polysplenia in an adult female presenting with obstructive jaundice owing to choledocholithiasis, possibly formed by biliary stasis as a result of compression of the common bile duct by the preduodenal portal vein, and review the literature. The patient was also found to have complete agenesis of the dorsal pancreas on CT and endoscopic retrograde cholangiopancreatography.
Topics: Choledocholithiasis; Female; Heterotaxy Syndrome; Humans; Jaundice, Obstructive; Middle Aged; Pancreas; Portal Vein; Spleen; Tomography, X-Ray Computed
PubMed: 22011826
DOI: 10.1259/bjr/27680217 -
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 -
The Indian Journal of Surgery Apr 2014Preduodenal portal vein (PDPV) is a rare developmental anomaly. In infants, this is often associated with duodenal obstruction or biliary atresia. It is generally... (Review)
Review
Preduodenal portal vein (PDPV) is a rare developmental anomaly. In infants, this is often associated with duodenal obstruction or biliary atresia. It is generally asymptomatic in adults (Ooshima et al., Hepato-Biliary-Pancreat Surg 5(4):455-458, 1998). Here, we report a singular case of adult PDPV that was discovered accidentally during emergency laparotomy for peritonitis due to gastric perforation in a 38-year-old lady. A plethora of congenital anomalies was uncovered, which is consistent with the reported cases of classical polysplenia syndrome, viz., multiple spleens of equal volume, visceral heterotaxia, right (Rt.)-sided stomach, a left (Lt.)-sided or a large midline liver, malrotation of intestine, a short pancreas, PDPV and IVC abnormalities (Gayer et al., Abdom Imaging 24:178-184, 1999). In addition, abnormalities like anamolous origin of Lt. gastric and splenic arteries from the abdominal aorta with absent celiac trunk, hepatic artery arising from the superior mesenteric artery, hepatic veins draining directly to Rt. atrium, etc. along with hypertrophic and lipomatous interatrial septum have also been detected during further investigations. As of now, we have come across 29 cases of adult PDPV reported in world literature and we are reporting our unique case with a review of literature on anomalies of visceral organs associated with PDPV.
PubMed: 24891779
DOI: 10.1007/s12262-013-0812-9 -
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 -
Journal of the Belgian Society of... Oct 2019What to look for in case of polysplenia and/or unusual disposition of several intra-abdominal organs.
What to look for in case of polysplenia and/or unusual disposition of several intra-abdominal organs.
PubMed: 31646265
DOI: 10.5334/jbsr.1903 -
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 -
Congenital Heart Disease Nov 2019Heterotaxy syndrome (HS) is a condition in which the thoracoabdominal organs demonstrate an abnormal lateral arrangement and is often associated with congenital heart...
BACKGROUND
Heterotaxy syndrome (HS) is a condition in which the thoracoabdominal organs demonstrate an abnormal lateral arrangement and is often associated with congenital heart disease (CHD). Little is known about the adult HS population with CHD.
OBJECTIVE
To describe the outcomes and sociodemographics of the adult CHD population with HS.
METHODS
Records of patients 18 years of age or older with diagnoses of both CHD and HS at Texas Children's Hospital from 1964 to 2018 were reviewed.
RESULTS
Sixty-two patients met inclusion criteria. Median age was 22.7 [IQR 19.6-30.0] years; 26 (42%) were female; and 13 (21%) of patients had a gap in care of >3 years. Median follow-up time in adulthood was 2.9 [IQR 1.3-8.2] years. Forty-three (69%) of patients had single ventricle heart disease, 31 (71%) of whom completed Fontan circulation. A total of 36 interventions occurred in 24 patients which included 16 cardiac catherization interventions, 13 electrophysiology-related procedures, and 18 surgical procedures including 2 orthotopic heart transplants. The median age for death or heart transplant was 45.3 (95%CI 34.3-56.1) years. Heart failure-free survival was 80.8 ± 5.2%, 58.7 ± 11.0%, and 31.1 ± 15.7% at 20, 30, and 40 years old, respectively. Cerebrovascular accident-free survival was 84.3 ± 5.1%, 54.2 ± 11.3%, and 40.6 ± 14.5% at 20, 30, and 40 years old, respectively. Tachyarrhythmia-free survival was 54.0 ± 7.1%, 29.2 ± 8.3%, and 19.5 ± 9.7% at 20, 30, and 40 years old and bradyarrhythmia-free survival was 66.0 ± 6.3%, 41.7 ± 9.4%, and 33.4 ± 10.6% at ages 20, 30, and 40 years, respectively.
CONCLUSIONS
At a tertiary referral center, adult patients with CHD and HS have high rates of comorbidities and early death or heart transplant. Longitudinal surveillance and further exploration into factors associated with improved survival in this population are warranted.
Topics: Adult; Age Factors; Cardiac Catheterization; Cardiac Surgical Procedures; Cause of Death; Comorbidity; Disease Progression; Health Status; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Middle Aged; Progression-Free Survival; Retrospective Studies; Risk Factors; Survivors; Texas; Time Factors; Young Adult
PubMed: 31617655
DOI: 10.1111/chd.12856 -
Infantile Bowel Obstruction in a Patient with Situs Inversus Totalis and Polysplenia: A Case Report.International Medical Case Reports... 2022The infantile intestinal obstruction associated with situs inversus totalis and polysplenia is extremely rare, with only a few cases reported in the literature....
The infantile intestinal obstruction associated with situs inversus totalis and polysplenia is extremely rare, with only a few cases reported in the literature. Furthermore, the management of this association is complicated. We report a case of a 2-month-old boy with intestinal obstruction due to malrotation and volvulus with thin translucent omentum sac encasing the small intestine associated with situs inversus totalis, polysplenia, and pulmonary hypertension. To the best of our knowledge, this is the first case of situs inversus totalis with polysplenia, pulmonary hypertension, and intestinal obstruction due to malrotation and volvulus with thin translucent omentum sac encasing the small intestine.
PubMed: 36330372
DOI: 10.2147/IMCRJ.S385808