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Paper 4
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Polysplenia syndrome is a form of left isomerism and one of the heterotaxy syndromes. Patients with polysplenia have multiple small spleens, bilobed lungs, hyparterial bronchi, bilateral left atria, partial anomalous pulmonary venous return (APVR), a midline liver and absent gallbladder. The superior vena cava continues as the azygous or hemiazygous vein.
The abdomen
Published in Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague, Paediatric Surgical Diagnosis, 2018
Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague
Splenic trauma is discussed in Chapter 10. Rare abnormalities of splenic development include splenic cysts, splenogonadal fusion, asplenia and polysplenia. Asplenia and polysplenia are both associated with heterotaxy (abnormal left-right axis thoracoabdominal visceral location) and cardiac malformations, and polysplenia is part of the biliary atresia splenic malformation syndrome.
Biliary atresia
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Eric Jelin, Kelly D Gonzales, Hanmin Lee
Biliary atresia has been found to have a 20% association with other anomalies that include splenic malformations, situs inversus, annular pancreas, preduodenal portal vein, intestinal malrotation, an absent inferior vena cava and cardiac anomalies. Splenic malformations that have been seen include polysplenia, asplenia or double spleen. Ventricular septal defect, atrial septal defect and hypoplastic heart are cardiac anomalies that have been associated with biliary atresia. Genetic abnormalities such as trisomy 18 and trisomy 21 have also been found to be associated with biliary atresia.
Hepatocyte growth factor levels in livers and serum at Kasai-portoenterostomy are not predictive of clinical outcome in infants with biliary atresia
Published in Growth Factors, 2019
Omid Madadi-Sanjani, Joachim F. Kuebler, Stephanie Dippel, Anna Gigina, Christine S. Falk, Gertrud Vieten, Claus Petersen, Christian Klemann
The study protocol is in accordance with the declaration of Helsinki, approved by the local ethics committee, and written informed consent was obtained from each patient’s guardian. Parallel liver tissue and serum samples were obtained from infants with BA who received KPE between 2004 and 2014. Patients were allocated to either favorable outcome (survival with native liver (SNL): jaundice free [bilirubin < 20 µmol/l] survival with own liver > 2 years) or unfavorable outcome (RLF: death or LTX within 2 years following KPE). Regarding these criteria, for 57 patients treated at the Hannover Medical School, follow-up data >2 years and sufficient parallel obtained sera and liver tissue specimens bio-banked were available using the BA and related diseases registry (www.bard-online.com). One patient underwent a Re-KPE 48 d following the first operation on day 42. The samples retrieved at the second KPE were not included in group analyses, but separately compared to the samples of the first KPE. Patients with syndromic BA were excluded, defined by the presence of polysplenia, situs inversus, and vascular anomalies (Hoerning et al. 2014). A detailed epidemiologic table of our cohort is provided in our previous report (Madadi-Sanjani et al. 2018).
Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum
Published in Fetal and Pediatric Pathology, 2019
Gürcan Türkyilmaz, Sahin Avcı, Tugba Sıvrıkoz, Emircan Erturk, Umut Altunoglu, Sebnem Erol Turkyilmazlmaz, Ibrahim Halil Kalelioglu, Recep Has, Atil Yuksel
Intra- and extracardiac anomalies accompany the majority of cases. EC is frequently found in association with pentalogy of Cantrell, a syndrome involving five anomalies: (a) a midline supraumbilical abdominal wall defect, (b) a sternal cleft, (c) ventral diaphragmatic hernia, (d) congenital heart defects, (e) and EC. A ventricular septal defect is the most common cardiac anomaly; also atrial septal defect, tetralogy of Fallot, double-outlet right ventricle and ventricular diverticulum commonly coexist with EC [17]. Neural tube defects, such as anencephaly, encephalocele and cranioschisis have been reported with Cantrell syndrome. Gallbladder agenesis and polysplenia may be other attending anomalies. Vertebral anomalies, clubfoot, the absence of tibia, fibula or radius have been reported in a few case reports [18,19]. The association of an abdominal wall defect with EC is the hallmark of this syndrome in the prenatal period. The prenatal findings were concordant with pentalogy of Cantrell in four fetuses in our series (Cases 1, 2, 3 and 7). We detected a large abdominal wall defect with EC in all of these cases, but unfortunately, we could not show a cardiac malformation in any case. We scanned the patients in the first trimester in three patients (Cases 1, 2 and 3) and due to early gestation, we could not perform an adequate cardiac screening. We could not scan these cases in the second trimester because the patients opted for termination of pregnancy. We performed a postnatal evaluation in all of these cases, but we did not find an additional structural cardiac malformation. Tetralogy of Fallot was identified in postnatal echocardiography in Case 7, but we could not demonstrate this anomaly in fetal life.
Cardiac Findings in Fetal and Pediatric Autopsies: A 15-Year Retrospective Review
Published in Fetal and Pediatric Pathology, 2019
Extracardiac anomalies were found 29 out of 72 cases of isolated cardiac defects (40%) (Table 2), and 20 out of 47 cases of complex cardiac defects (43%) (Table 3). These proportions were significantly different (p = 0.006). The extra-cardiac malformations are detailed for individual cases in Table 4 and are summarized in Table 5. The most common anomalies were dysmorphism (28% of cases), followed by malformations involving the thoracic cavity tract (20% of cases) and asplenia/polysplenia (16% of cases). Chromosome analysis was performed in 29 cases (24%), 22 of which detected chromosomal abnormalities, consisting of trisomy 18 (9 cases), trisomy 21 (6 cases), of trisomy 13 (4 cases), and others (3 cases), specifically 46xx, –14 + der(14)t(13:14), 45,x/46,xi(xq)46,x + mar, and 46xx,del(11)(q22→qter). All 19 cases with trisomy and the case of 46xx,-14 + der(14)t(13:14) demonstrated extracardiac malformations involving multiple organ systems. The other 7 cases had normal chromosome studies, and 4 of these had extracardiac anomalies involving multiple organ systems. The other 3 cases with normal chromosome studies and the cases with 45,x/46,xi(xq)46,x + mar and 46xx,del(11)(q22→qter) showed no extracardiac malformations. For the 25 cases in which chromosome studies were not performed, 13 cases were associated with isolated cardiac defects and 12 cases with complex cardiac defects. Six of the 13 cases with isolated cardiac defects had extracardiac malformations involving a single organ system and the central nervous system was the most common system involved, accounting for 3 cases. The other 7 cases with isolated cardiac defects and all 12 cases with complex cardiac defects had extracardiac malformations involving multiple organ systems.