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Frontiers in Pediatrics 2022The epidemiology and outcomes of biliary atresia (BA) have been well-documented in national cohorts from two main ethnicities, namely, the Asian Orientals and...
BACKGROUND
The epidemiology and outcomes of biliary atresia (BA) have been well-documented in national cohorts from two main ethnicities, namely, the Asian Orientals and Caucasians, with incidence ranging from 1 in 5,000 to 1 in 9,000 live births in East Asia and 1 in 15,000 to 19,000 live births in Europe and North America.
OBJECTIVE
We report the first nationwide BA study outside North America, Europe, and East Asia to describe the epidemiology and outcomes of BA in Saudi Arabia.
METHODS
A national database of BA cases diagnosed between 2000 and 2018 was analyzed. We assessed clearance of jaundice (bilirubin <20 μmol/L) in all cases that underwent Kasai portoenterostomy (KPE). We then estimated survival using the Kaplan-Meier method with endpoints of liver transplantation (LT), death, or survival with native liver (SNL).
RESULTS
BA was diagnosed in 204 infants (106 females; 10% pre-term). The incidence of BA was 1 in 44,365, or 2.254 in 100,000 live births (range, 0.5-4 in 100,000). Polysplenia was diagnosed in 22 cases (11%). The median age at referral was 65 days. A total of 146 children (71.5%) underwent KPE at a median age of 70 days. Clearance of jaundice was achieved in 66 of the 146 (45%) infants. The 10-year SNL after KPE was 25.5%, and the overall 10-year estimated survival was 72.5%. The Kaplan-Meier survival curves for patients undergoing KPE at the age of <60, 61-90, and >90 days showed a SNL rate at 51.6, 33, and 12.5%, respectively, at 5 years ( < 0.001). The 2-, 5-, and 10-year post-LT survival rates were 92.5, 90.6, and 90%, respectively. Undergoing an initial KPE did not impact negatively on the overall LT survival rate when compared to BA cases that underwent primary LT ( = 0.88).
CONCLUSION
The incidence rate of BA in Saudi Arabia is lower than the incidence reported elsewhere. Late referral of BA cases remains a problem in Saudi Arabia; as a result, the SNL rate was lower than reported by other national registries. Hence, national policies devoted to timely referral and earlier age at KPE are needed.
PubMed: 35923790
DOI: 10.3389/fped.2022.921948 -
Radiology Case Reports Oct 2022We present a rare case of pelvic splenosis, in a 46-year-old man, with a previous history of partial splenectomy, complaining of nonspecific pain in the lower abdominal...
We present a rare case of pelvic splenosis, in a 46-year-old man, with a previous history of partial splenectomy, complaining of nonspecific pain in the lower abdominal quadrants. Splenosis is a benign acquired condition, defined as a heterotopic autotransplantation of splenic tissue in other compartments of the body, caused by rupture of the splenic capsule following trauma or splenectomy. Splenosis is often asymptomatic and incidentally found and does not require treatment. Surgery is indicated only in patients presenting with symptoms or complications. In our case, the multimodal imaging study (ultrasound, MRI, CT, and scintigraphy) allowed a correct differential diagnosis without resorting to invasive procedures, susceptible to complications.
PubMed: 35923337
DOI: 10.1016/j.radcr.2022.06.096 -
Journal of the Belgian Society of... 2022A rare case of spontaneous splenic infarction with polysplenia is presented. The diagnosis was made by confirmed by enhanced computed tomography (CT), which showed...
A rare case of spontaneous splenic infarction with polysplenia is presented. The diagnosis was made by confirmed by enhanced computed tomography (CT), which showed multiple spleens in the left abdomen and one of the spleen showing low attenuation areas representing infarct. Polysplenia syndrome is a rare entity associated with heterotaxy syndromes. Radiological examinations help the diagnosis by identifying infarcts in the spleen and other abnormal organs in the chest and abdomen. We report a rare case of polysplenic syndrome with splenic infarction.
PubMed: 35814278
DOI: 10.5334/jbsr.2685 -
PloS One 2022The incidence of hepatocellular carcinoma (HCC) in patients with Fontan-associated liver disease (i.e., FALD-HCC) has increased over time. However, the risk factors for...
AIMS
The incidence of hepatocellular carcinoma (HCC) in patients with Fontan-associated liver disease (i.e., FALD-HCC) has increased over time. However, the risk factors for HCC development remain unclear. Here, we compared the levels of non-invasive markers to the survival rate of FALD-HCC patients.
METHODS
From 2003 to 2021, 154 patients (66 men, 42.9%) developed liver disease after undergoing Fontan procedures. HCC was diagnosed in 15 (9.7%) (8 men, 53.3%) at a median age of 34 years (range, 21-45 years). We compared FALD-HCC and non-HCC cases; we generated marker level cutoffs using receiver operating characteristic curves. We sought to identify risk factors for HCC and mortality.
RESULTS
The incidence of HCC was 4.9% in FALD patients within 20 years after the Fontan procedure. Compared with non-HCC patients, FALD-HCC patients exhibited higher incidences of polysplenia and esophageal varices. At the time of HCC development, the hyaluronic acid (HA) level (p = 0.04) and the fibrosis-4 index (p = 0.02) were significantly higher in FALD-HCC patients than in non-HCC patients; the total bilirubin (T-BIL) level (p = 0.07) and the model for end-stage liver disease score [excluding the international normalized ratio (MELD-XI)] (p = 0.06) tended to be higher in FALD-HCC patients. Within approximately 20 years of the Fontan procedure, 10 patients died (survival rate, 96.9%). Kaplan-Meier curve analysis indicated that patients with T-BIL levels ≥ 2.2 mg/dL, HA levels ≥ 55.5 ng/mL, and MELD-XI scores ≥ 18.7 were at high risk of HCC, a generally poor prognosis, and both polysplenia and esophageal varices. Multivariate Cox regression analyses indicated that the complication of polysplenia [Hazard ratio (HR): 10.915] and a higher MELD-XI score (HR: 1.148, both p < 0.01) were independent risk factors for FALD-HCC.
CONCLUSIONS
The complication of polysplenia and a MELD-XI score may predict HCC development and mortality in FALD patients.
Topics: Adult; Biomarkers; Carcinoma, Hepatocellular; End Stage Liver Disease; Esophageal and Gastric Varices; Humans; Liver Neoplasms; Male; Middle Aged; Prognosis; Retrospective Studies; Risk Factors; Severity of Illness Index; Young Adult
PubMed: 35714161
DOI: 10.1371/journal.pone.0270230 -
Journal of Cardiovascular Development... Apr 2022Polysplenia syndrome represents a type of left atrial isomerism characterized by multiple small spleens, often associated with cardiac malformations and with of the...
A Rare Case of Polysplenia Syndrome Associated with Severe Cardiac Malformations and Congenital Alveolar Dysplasia in a One-Month-Old Infant: A Complete Macroscopic and Histopathologic Study.
Polysplenia syndrome represents a type of left atrial isomerism characterized by multiple small spleens, often associated with cardiac malformations and with of the abdominal organs. The case presented is of a one-month-old male infant, weighing approximately 3000 g, born at the County Clinical Emergency Hospital of Sibiu, who was hospitalized from birth until death. The patient suffered cardio-respiratory arrest due to severe hypoxia and septicemia on the background of a series of complex cardiac malformations associated with congenital abdominal organ anomalies. Examination of the body revealed a common atrium with complete atrioventricular canal defect, left ventricular hypertrophy, right ventricle hypoplasia, truncus arteriosus, superior vena cava duplication, bilobation of the lungs, situs ambiguous of the abdominal organs with right-sided stomach, a midline liver, gall bladder agenesis, multiple right-sided spleens and complete inversion of the intestines and pancreas. Histopathology concluded that the patient suffered cardiac lesions consistent with infantile lactic acidosis, as well as pulmonary modifications suggesting congenital alveolar dysplasia and altered hepatic architecture compatible with fibrosis.
PubMed: 35621846
DOI: 10.3390/jcdd9050135 -
Cureus Apr 2022Heterotaxy syndrome, also called atrial isomerism, is a rare congenital condition in which the internal organs are abnormally arranged across the left-right axis of the...
Heterotaxy syndrome, also called atrial isomerism, is a rare congenital condition in which the internal organs are abnormally arranged across the left-right axis of the body. It is classified into polysplenia syndrome or left atrial isomerism and asplenia syndrome or right atrial isomerism. It is associated with high morbidity and mortality due to the severity of cardiac anomalies. It is important to be aware of the syndrome findings as they can be incidentally found on imaging in adults. Here, we report a case of a 33-year-old female who presented with worsening shortness of breath, found to have a pulmonary embolism, and heterotaxy was incidentally identified on her imaging. A concise review follows.
PubMed: 35607583
DOI: 10.7759/cureus.24326 -
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 -
European Journal of Human Genetics :... Aug 2022The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with...
The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with complex congenital heart defects (CHD) and situs abnormalities such as intestinal malrotation, biliary atresia, asplenia, or polysplenia. A proportion of laterality defects arise in the context of primary ciliary dyskinesia (PCD) accompanied by respiratory symptoms or infertility. In this study, exome sequencing (ES) was performed in 14 case-parent trios/quattros with clinical exclusion of PCD prior to analysis. Moreover, all cases and parents underwent detailed clinical phenotyping including physical examination, echocardiography by a skilled paediatric cardiologist and abdominal ultrasound examinations not to miss mildly affected individuals. Subsequent survey of the exome data comprised filtering for monoallelic de novo, rare biallelic, and X-linked recessive variants. In two families, rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified. Both genes have been associated with laterality defects. In two of the remaining families, biallelic variants in LMBRD1 and DNAH17, respectively, were prioritized. In another family, an ultra-rare de novo variant in WDR47 was found. Extensive exome survey of 2,109 single exomes of individuals with situs inversus totalis, heterotaxy, or isolated CHD identified two individuals with novel monoallelic variants in WDR47, but no further individuals with biallelic variants in DNAH17 or LMBRD1. Overall, ES of 14 case-parent trios/quattros with cardiovascular laterality defects identified rare VUS in two families in known disease-associated genes PKD1L1 and ZIC3 and suggests DNAH17, LMBRD1, and WDR47 as potential genes involved in laterality defects.
Topics: Exome; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Membrane Proteins; Nucleocytoplasmic Transport Proteins; Phenotype; Situs Inversus; Exome Sequencing
PubMed: 35474353
DOI: 10.1038/s41431-022-01100-2 -
The Pan African Medical Journal 2022Polysplenia syndrome mainly described in pediatrics; rarely and incidentally in adulthood. Most patients had their diagnosis done during childhood due to the frequent...
Polysplenia syndrome mainly described in pediatrics; rarely and incidentally in adulthood. Most patients had their diagnosis done during childhood due to the frequent association to cardiac anomalies that speak for themselves earlier in life. Multiple spleens, cardiac defect and vascular malformation of the inferior vena cava with azygos or hemiazygos continuation are the most frequent observed malformations. Our patient was one this rarest adulthood incidental diagnosis, who presented in the emergency department for nephritic colic, and while imaging for this, multiples spleens and other visceral malformations were diagnosed. Hopefully, cardiac ultrasound hadn't showed any cardiac malformation and the patient was discharged aware of this condition. Through this publication we report the possible incidental diagnosis of polysplenia condition and highlight the fact that people with such important malformation can lead a normal life, and only awareness should be given for future surgeries, instrumental treatment or else.
Topics: Adult; Child; Echocardiography; Heterotaxy Syndrome; Humans; Vena Cava, Inferior
PubMed: 35371381
DOI: 10.11604/pamj.2022.41.67.29014 -
Cureus Feb 2022Interrupted inferior vena cava (IVC) with azygos continuation is one of the anomalies of the inferior vena cava (AIVCs) where venous drainage of the lower extremities is...
Interrupted inferior vena cava (IVC) with azygos continuation is one of the anomalies of the inferior vena cava (AIVCs) where venous drainage of the lower extremities is accomplished through a dilated azygos system and is usually accompanied by other congenital malformations such as polysplenia. AIVCs are more common in patients younger than 40 presenting with deep venous thrombosis (DVT). However, pulmonary embolism (PE) in association with AIVCs remains underreported. In this article, we describe a rare case of a 23-year-old male who presented with syncope secondary to sub-massive pulmonary embolism in the setting of an interrupted vena cava draining directly into the azygous vein.
PubMed: 35317044
DOI: 10.7759/cureus.22323