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Fetal and Pediatric Pathology 2014This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating... (Review)
Review
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions.
Topics: Child; Humans; Kidney; Urogenital Abnormalities
PubMed: 25313840
DOI: 10.3109/15513815.2014.959678 -
The Journal of Urology Sep 2015
Topics: Heterotaxy Syndrome; Humans; Male; Middle Aged; Tomography, X-Ray Computed
PubMed: 26051344
DOI: 10.1016/j.juro.2015.06.001 -
Medicina 2014
Topics: Heterotaxy Syndrome; Humans; Male; Middle Aged; Tomography, X-Ray Computed
PubMed: 24736255
DOI: No ID Found -
Circulation Journal : Official Journal... Mar 2019Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with heterotaxy syndrome. Less is known, however,...
BACKGROUND
Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with heterotaxy syndrome. Less is known, however, about pulmonary vascular complications in these patients. Methods and Results: We reviewed medical records of 236 patients who were diagnosed with polysplenia syndrome at 2 institutions for pediatric cardiology in Japan from 1978 to 2015. We selected and compared the clinical records of 16 patients with polysplenia who had incomplete atrioventricular septal defect (AVSD) as the polysplenia group, and 22 age-matched patients with incomplete AVSD without any syndromes including polysplenia as the control group. Although the severity of systemic to pulmonary shunt was not significantly different between the groups, mean pulmonary artery pressure (mPAP) and pulmonary vascular resistance index (PVRI) were significantly higher in the polysplenia group than the control (mPAP, 37.3 vs. 19.1 mmHg, P=0.001; PVRI, 5.7 vs. 1.4 WU∙m, P=0.014) before surgical intervention. On regression analysis, polysplenia influenced the development of pulmonary hypertension (PH) regardless of age at evaluation or degree of systemic to pulmonary shunt in the patients with incomplete AVSD.
CONCLUSIONS
Polysplenia syndrome is an independent risk factor for CHD-associated PH. Earlier intervention may be required to adjust the pulmonary blood flow in polysplenia syndrome with CHD to avoid the progression of PH.
Topics: Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Disease Progression; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Hypertension, Pulmonary; Infant; Japan; Pulmonary Artery; Retrospective Studies; Risk Factors; Young Adult
PubMed: 30842375
DOI: 10.1253/circj.CJ-18-0933 -
Ryoikibetsu Shokogun Shirizu 1996
Review
Topics: Abnormalities, Multiple; Heart Defects, Congenital; Humans; Spleen
PubMed: 9048033
DOI: No ID Found -
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 -
Annals of Hepatology 2004To report a case of polysplenia syndrome (PSS) in an adult patient. (Review)
Review
AIMS
To report a case of polysplenia syndrome (PSS) in an adult patient.
BACKGROUND
The PSS is a form of situs ambiguous with multiple spleen, cardiac anomalies, abdominal heterotaxia, short pancreas, major venous system and bronquial malformations. It is a rare syndrome, more often found in childhood, and only the 10% of the patients that do not have cardiac anomalies can reach adulthood.
RESULTS
A 56 y/o male with obstructive jaundice and intestinal obstruction who was submitted to an abdominal laparotomy suspecting cholangiocarcinoma. He had choledocolithiasis, duodenal kinking by a preduodenal portal vein, intestinal levorotation, hypoplasic vena cava with a prominent acigos vein, short pancreas and polysplenia. A cholecistectomy, biliodigestive and gastroyeyunal bypasses were performed without any complications and with a successful evolution.
CONCLUSIONS
In conclusion, PSS is a rare hereditary syndrome that often occurs in childhood and its discovery in an adult is frequently fortuitus. Surgical treatment is an excellent therapeutic option, however is reserved just for complications. The outcome is good and the final evolution depends on the degree of the cardiac anomalies.
Topics: Abnormalities, Multiple; Humans; Intestinal Obstruction; Jaundice, Obstructive; Magnetic Resonance Imaging; Male; Middle Aged; Spleen; Syndrome; Tomography, X-Ray Computed
PubMed: 15505598
DOI: No ID Found -
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 May 2023Polysplenia syndrome is a rare congenital anomaly characterized by multiple spleens and associated organ anomalies, which can present with serious complications such as...
Polysplenia syndrome is a rare congenital anomaly characterized by multiple spleens and associated organ anomalies, which can present with serious complications such as splenic infarction. Diagnosis and management of the disorder can be challenging due to the presence of associated anomalies and the condition is often diagnosed incidentally. We report a case of a six-year-old girl with no significant medical history who presented to the emergency department with fever, abdominal pain, and vomiting. Physical examination and laboratory investigations showed leukocytosis, anemia, and elevated levels of C-reactive protein. A computed tomography scan revealed splenic infarction with polysplenia syndrome. The patient received intravenous antibiotics and pain management and was closely monitored for complications such as sepsis. Early diagnosis and appropriate management are essential to prevent complications, and close monitoring and follow-up are necessary for long-term management.
PubMed: 37284391
DOI: 10.7759/cureus.38589 -
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