Biliary atresia (BA) is a cholangiodestructive disease affecting biliary tract, which ultimately leads to cirrhosis, liver failure and death if not treated. The incidence is higher in Asian countries than in Europe. Up to 10% of cases have other congenital anomalies, such as polysplenia, asplenia, situs inversus, absence of inferior vena cava and pre-duodenal portal vein, for which we have coined the term Biliary Atresia Splenic Malformation (BASM) syndrome. For these infants the aetiology lies within the first trimester of gestation. For others affected with BA, aetiology is more obscure and perinatal destruction of fully-formed ducts perhaps by the action of hepatotropic viruses has been suggested. Whatever the cause, the lumen of the extrahepatic duct is obliterated at a variable level and this forms the basis for the commonest classification (Types I, II, III). All patients with BA present with varying degree of conjugated jaundice, pale non-pigmented stools and dark urine. Key diagnostic tests include ultrasonography, biochemical liver function tests, viral serology, and (in our centre) a percutaneous liver biopsy. In some centres, duodenal intubation and measurement of intralumenal bile is the norm. Currently BA is being managed in two stages. The first stage involves the Kasai operation, which essentially excises all extrahepatic biliary remnants leaving a transected portal plate, followed by biliary reconstruction using a Roux loop onto that plate as a portoenterostomy. If bile flow is not restored by Kasai procedure or life-threatening complications of cirrhosis ensue then consideration should be given to liver transplantation as a second stage. The outcome following the Kasai operation can be assessed in two ways: clearance of jaundice to normal values and the proportion who survive with their native liver. Clearance of jaundice (<2 mg/dL or <34 µmol/L) after Kasai has been reported to be around 60%, whereas five years survival with native liver ranges from 40% to 65%.
Biliary atresia; surgical jaundice
We report a rare association of duodenal atresia with situs inversus abdominus in a newborn. The infantogram revealed “reverse double-bubble sign” without dextrocardia. The sonography and echocardiography confirmed the diagnosis of situs inversus abdominus with multiple cardiac anomalies. Laparotomy and a duodenoduodenostomy were carried out.
Duodenal atresia; reverse double- bubble; situs inversus abdominus
In the family presented here the first child had asplenia syndrome with cor biloculare' transposition of the great vessels, pulmonary stenosis, and anomalous pulmonary venous drainage. Another sib had situs inversus with polysplenia syndrome, including very similar cardiovascular defects and biliary atresia. The possibility that these two syndromes, namely asplenia and polysplenia, are different manifestations of a similar defect in the normal asymmetrical development of internal organs is discussed.
One hundred and seventy three children, including 93 with biliary atresia, received liver grafts at Addenbrooke's Hospital between 1983 and 1993. Of these, only seven developed cyanosis due to intrapulmonary shunting as a complication of their liver disease, and all seven of these had the biliary atresia/polysplenia syndrome. Intrapulmonary shunting was confirmed by a radioisotope scan in four children. Only one child with the syndrome did not have cyanosis when undergoing transplantation. Seven of the eight children are alive 6-54 months after transplantation, with normal pulmonary and hepatic function. Cyanosis recurred in one child who developed chronic rejection with liver failure. In conclusion: (a) there is a strong association between the biliary atresia/polysplenia syndrome and cyanosis due to intrapulmonary shunting; (b) intrapulmonary shunting is fully reversible after successful liver transplantation; and (c) cyanosis, once present, is progressive, and these children should be considered for liver transplantation as soon as it occurs.
The atrial morphology and venous connections were assessed "blind" in 51 necropsy specimens from patients with visceral heterotaxy. This was compared with bronchial morphology as established by dissection. Six specimens were found to have both atria and bronchi in situs solitus or inversus, and were rejected. In the remainder, atrial isomerism was diagnosed, though this required minor revision of the atrial assessment in two patients. Thirty-four patients had isomeric right atria and bronchi, while 11 had isomeric left atria and bronchi. In seven cases, splenic status was unknown, but in seven of the remaining 38 (18.4%) atrial isomerism was not associated with either asplenia or polysplenia. Nevertheless, right isomerism was strongly associated with total anomalous pulmonary venous drainage (as is asplenia) and left isomerism was likewise associated with interruption of the inferior vena cava (as is polysplenia). Bilateral superior venae cavae and hepatic veins, and absence of the coronary sinus, were frequent in both forms of isomerism (as they are in asplenia and polysplenia). These findings suggest that atrial situs can be defined as solitus inversus, right isomerism, and left isomerism. This determination of atrial situs is quite independent of any other abnormalities of visceral situs. The high incidence of anomalies of both venous return and common atrium resulted in presumed complete mixing of blood at atrial level in all but one patient (97.8%), making the haemodynamic connection between atria and ventricles almost always ambiguous. To describe this anatomical connection as ambiguous when there are two ventricles present is therefore no more than recognition of anatomical and haemodynamic reality.
Laterality defects are rare in cattle and usually manifest as asplenia or
polysplenia syndrome. These syndromes may be associated with situs ambiguus,
which is a dislocation of some but not all internal organs. The objective of
this report was to describe the clinical and post-mortem findings including
the macroscopic and microscopic anatomy of selected organs in a cow with
polysplenia and situs ambiguus.
A 3.5-year-old Brown Swiss cow was referred to the Department of Farm
Animals, Vetsuisse Faculty, University of Zurich, because of poor appetite
and recurrent indigestion. A diagnosis of situs ambiguus was based on the
results of physical examination, ultrasonography, exploratory laparotomy and
post-mortem examination. The latter revealed that the rumen was on the right
side and lacked compartmentalisation. There were two spleens, one on the
left (26.5 x 12.0 cm) and one on the right (20.5 x 5.5 cm), and the omasum
was located craniolateral to the ruminoreticulum on the left. The abomasum
was located on the right, although it had initially been displaced to the
left. The three-lobed liver occupied the left and central cranioventral
aspect of the abdominal cavity (cavum abdominis). Only the right and left
hepatic veins (vena hepatica dextra and sinistra) drained into the thoracic
segment of the caudal vena cava (vena cava caudalis), and histological
changes in the liver were indicative of impaired haemodynamics. The
mesojejunum was not fused with the mesentery of the spiral loop (ansa
spiralis) of the ascending colon (colon ascendens). The latter was folded
and the transverse colon (colon transversum) ran caudal to the cranial
mesenteric artery (arteria mesenteria cranialis). Fibrotic constrictions
were seen in the lumen of the caecum and proximal loop (ansa proximalis) of
the ascending colon. Both kidneys were positioned retroperitoneally in a
lumbar position. The lumbar segment of the caudal vena cava did not descend
to the liver and instead drained into the right azygous vein (vena azygos
Recurrent digestive problems and poor production in this patient may have
been caused by a lack of rumen compartmentalisation, abnormal abomasal
motility, constrictions in the large intestine (intestinum crassum) and
fibrosis of the liver. The abomasum had abnormal motility most likely
because it was anchored inadequately and only at its cranial aspect to the
liver by the lesser omentum (omentum minus) and to the dorsal abdominal wall
and rumen by a short greater omentum (omentum majus).
This report is to present and discuss an extremely rare association of situs inversus with duodenal atresia in an 11-day-old male neonate born full term and weighing 1.9 kg. The baby presented with recurrent bilious vomiting. Babygram revealed situs inversus and duodenal obstruction. Echocardiography showed dextrocardia with a small ASD. Exploration confirmed a duodenal diaphragm with a central perforation between the third and fourth part of the duodenum and situs inversus. The literature search revealed 20 cases reported so far.
Babygram; congenital duodenal obstructions; reverse double bubble; situs inversus
Correlate the anatomic features of atrioventricular septal defect with echocardiographic images.
Materials and methods
Sixty specimen hearts were studied by sequential segmental analysis. Echocardiograms were performed on 34 patients. Specimen hearts with findings equivalent to those of echocardiographic images were selected in order to establish an anatomo-echocardiographic correlation.
Thirty-three specimen hearts were in situs solitus, 19 showed dextroisomerism, 6 were in situs inversus and 2 levoisomerism. Fifty-eight had a common atrioventricular valve and 2 had two atrioventricular valves. Rastelli types were determined in 21 hearts. Nine were type A, 2 intermediate between A and B, 1 mixed between A and B, 4 type B and 5 type C. Associated anomalies included pulmonary stenosis, pulmonary atresia atrial septal defect, patent ductus arteriosus and anomalous connection of pulmonary veins. Echocardiograms revealed dextroisomerism in 12 patients, situs solitus in 11, levoisomerism in 7 and situs inversus in 4. Thirty-one patients had common atrioventricular valves and three two atrioventricular valves. Rastelli types were established in all cases with common atrioventricular valves; 17 had type A canal defects, 10 type B, 3 intermediate between A and B, 1 mixed between A and B and 3 type C. Associated anomalies included regurgitation of the atrioventricular valve, pulmonary stenosis, anomalous connection of pulmonary veins, pulmonary hypertension and pulmonary atresia.
Anatomo-echocardiographic correlation demonstrated a high degree of diagnostic precision with echocardiography.
Patients with genetic disorders associated with multiple congenital anomalies present unique challenges to the anesthesiologist. We report the successful perioperative management of a child with biliary atresia, situs inversus totalis, and Kartegener syndrome scheduled for corrective biliary surgery. We recommend that patients with multiple congenital anomalies need to be thoroughly and cautiously evaluated. The perioperative management should be individualized based on associated anomalies along with appropriate monitoring.
Anesthesia; biliary atresia; hepatobiliary surgery; Kartegener syndrome; situs inversus totalis
This review presents the cardiac and non-cardiac malformations in 60 cases with asplenia and polysplenia with special reference to distinguishing factors which may be helpful in the clinical recognition of these syndromes. The asplenia cases were predominantly male and presented with cyanosis. They frequently had transposition of the great arteries (72%) with pulmonary stenosis or atresia (88%) and total anomalous pulmonary venous drainage (72%). Deaths were caused by cardiac failure and anoxia in 57 per cent of cases. Most of the patients died in the first year of life (79%), but longer survival is possible in the asplenia syndrome. The polysplenia cases were predominantly female and survived longer. The characteristic clinical findings were the relatively more benign presenting signs and the leftward or superiorly orientated P wave axis on the electrocardiogram. Conotruncal abnormalities were less common and total anomalous pulmonary venous drainage did not occur. On angiography the inferior vena caval drainage via the azygos system was clearly identified and this was present in all cases at surgery. Our study indicated that the cardiac anomalies in polysplenia were less severe than they were in asplenia and therefore the prognosis in the former syndrome is likely to be more favourable. Three families had two affects sibs but no single genetic factor could be identified. The aetiology of these syndromes remains undetermined.
Polysplenia, or left isomerism, is a rare heterotaxy syndrome characterized by bilateral bi-lobed lungs, bilateral pulmonary atria, a symmetrical midline liver, and multiple aberrant splenic nodules. We report a case of polysplenia associated with congenital lobar emphysema apart from other typical anomalies. Such an association has not been previously reported. The patient was a young male with progressive exertional breathlessness referred for high resolution CT of the lungs. CT, MRI and echocardiography revealed (in addition to congenital lobar emphysema of right lung) a hemiazygos continuation of the inferior vena cava, a persistent left superior vena cava, multiple splenunculi in the right hypochondrium, midline liver, bilateral bilobed lungs, a large pulmonary artery (suggestive of severe pulmonary artery hypertension) and a large VSD—a typical constellation of findings described in polysplenia syndrome.
The Situs viscerum inversus associated with anomalies of intestinal rotation and fixation is an extremely rare condition. To the authors’ knowledge, this is the first report of colon cancer associated with intestinal malrotation and mesenterium ileocolicum commune.
A 34-year-old man with a 2-month history of diarrhea associated with abdominal pain and weight loss underwent abdominal ultrasonography, colonscopy with biopsies and abdominal computed tomography scan with intravenous contrast. A right colonic neoplasm was diagnosed, observed only at surgery, as neither computed tomography or ultrasonography showed the intestinal malrotation. Particularly, the third and the fourth part of the duodenum descended vertically, without Treitz’s ligament in support to the duodeno-jejunal flexure. The small bowel and the colon were located in the right and left side of the abdominal cavity, respectively.
The anomaly of situs viscerum inversus influenced the surgical strategy in this case because of the vascular and lymphatic anomalies. Lymphatic vessels were therefore marked with subserosal injection of patent blue in the proximity of the tumor. Subsequently, right colectomy was performed. Colectomy extended from the distal ileum to the descending colon, by ligature of the right colic artery and vein at the origin from the superior mesenteric vessels. Patent blue guided lymphadenectomy was also performed with curative intent. Finally, a mechanical ileo-colic anastomosis was carried out. After right colectomy and ileo-descending anastomosis, the Ladd’s procedure for intestinal malrotation was unnecessary. The authors believe that this strategy, despite the anatomical difficulties, represents an effective procedure for the radical surgical treatment of the right colon cancer associated with anomalies of intestinal rotation and fixation.
Four anomalous hearts are described in which the great arteries arise in unusual fashion from their morphologically appropriate ventricles. This malformation, previously termed anatomically corrected transposition, is now termed anatomically corrected malposition. This is because, following the precedent of Van Praagh and his associates, we now reserve the term 'transposition' to describe the situation in which both great arteries arise from separate morphologically inappropriate ventricles. All the hearts examined exhibited atrioventricular concordance, I with viscero-atrial situs inversus, and 3 with situs solitus. However, there were considerable variations in ventricular morphology between the cases. Thus, 2 cases exhibited atresia of the right atrioventricular valve, and in the remaining 2 cases right and levt ventricular sinuses were both identified. Two of the cases also had pulmonary atresia, and coronary artery anomalies were present in all 4. The cases emphasize the fact that the term anatomically corrected malposition describes not a discrete anomaly but only a ventriculo-arterial relation, which is one of ventriculo-arterial concordance. Doubt has previously been cast upon the existence of this as an anatomical entity. It is concluded that the relation does indeed exist, and furthermore can coexist with all varieties of atrioventricular relations. It is suggested that the differing atrioventricular relations can be distinguished by usage of the terms 'concordant' or 'discordant' anatomically corrected malposition. Finally, it is emphasized that it is necessary to distinguish this anomaly, which in most cases presents with left-sided anterior aorta, from the left-sided anterior aorta more frequently encountered in classically corrected transposition'.
Situs ambiguous is rare congenital anomaly in adults. In 2 adult patients who admitted for different cardiac problems, situs ambiguous with polysplenia was detected. A 42-year-old male admitted for radio frequent catheter ablation of atrial fibrillation, and he had left-sided inferior vena cava (IVC), hepatic segment of IVC interruption with hemiazygos continuation, multiple spleens and intestinal malrotation. And in a 52-year-old female case who was hospitalized due to infective endocarditis after implanting pacemaker for sick sinus syndrome, multiple spleens, left-sided stomach, bilateral liver with midline gallbladder, and left-sided IVC were found. Those findings were consistent with situs ambiguous with polysplenia, but their features were distinctive.
Situs ambiguous; Polysplenia syndrome; Adult
Heterotaxy syndrome is a rare, complex, and confusing type of the situs anomalies. It is not possible to estimate the degree of lateralization, isomerism, and rotational variation in these types of cases. Heart and abdominal organ anatomy is specific to the individual, and it should be defined specifically on the basis of each case due to possible cardiac and extracardiac surgical interventions in patients with heterotaxy syndrome. Here, we present our findings obtained from a 58-year-old female patient with heterotaxy syndrome. The main components of this rare variation consist of right-hand-sided aorta, aortic arc, cardiac apex, gall bladder and left-hand-sided inferior vena cava, stomach, and spleen (polysplenia, 3 foci) according to the midline. Besides, the components include left-dominant liver, right-hand-sided large intestines, and left-hand-sided small intestines.
Situs inversus is an uncommon anomaly with rare incidence. Some cases of situs inversus totalis have been described with different types of associations. Here we report a case of situs inversus with carcinoma of the gastric cardia.
Situs inversus; Carcinoma of the gastric cardia; Case report
A 33-year-old man was admitted to our hospital with chest pain and exertional dyspnea. Two-dimensional echocardiography showed prominent trabeculations and deep intertrabecular recesses, findings consistent with noncompaction of the ventricular myocardium. Thoracoabdominal CT and cardiac magnetic resonance imaging (CMR) revealed situs ambiguous with polysplenia and noncompaction of the left ventricular myocardium. CMR also demonstrated delayed enhancement of the trabeculations located at the apical portion of the left ventricle. The coronary angiogram was normal. This is the first case of noncompaction of the ventricular myocardium associated with situs ambiguous with polysplenia.
Noncompaction of the ventricular myocardium (NVM); situs ambiguous with polysplenia
Situs inversus is a congenital anomaly characterized by the transposition of the abdominal viscera. When associated with dextrocardia, it is known as situs inversus totalis. This condition is rare and can be a diagnostic problem when associated with appendicular peritonitis.
We report the case of a 20-year-old African man who presented to the emergency department with a 4-day history of diffuse abdominal pain, which began in his left iliac region and hypogastrium. After examination, we initiated a surgical exploration for peritonitis. We discovered a situs inversus at the left side of his liver, and his appendix was perforated in its middle third. A complementary post-operative thoracic and abdominal tomodensitometry revealed a situs inversus totalis.
Appendicular peritonitis in situs inversus is a rare association that can present a diagnostic problem. Morphologic exploration methods such as ultrasonography, tomodensitometry, magnetic resonance imaging, and laparoscopy may contribute to the early management of the disease and give guidance in choosing the most appropriate treatment for patients.
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.
Spleen can have a wide range of anomalies including its shape, location, number, and size. Although most of these anomalies are congenital, there are also acquired types. Congenital anomalies affecting the shape of spleen are lobulations, notches, and clefts; the fusion and location anomalies of spleen are accessory spleen, splenopancreatic fusion, and wandering spleen; polysplenia can be associated with a syndrome. Splenosis and small spleen are acquired anomalies which are caused by trauma and sickle cell disease, respectively. These anomalies can be detected easily by using different imaging modalities including ultrasonography, computed tomography, magnetic resonance imaging, and also Tc-99m scintigraphy. In this pictorial essay, we review the imaging findings of these anomalies which can cause diagnostic pitfalls and be interpreted as pathologic processes.
Situs inversus of the optic disc is a rare, usually bilateral, congenital embryological abnormality associated with high myopia, optic disc coloboma or tilted optic disc. It is characterized by emergence of the retinal vessels in an anomalous direction with dysversion of the optic disc. In this report we present a 13-year-old boy diagnosed with isolated, unilateral situs inversus of the optic disc associated with reduced binocularity and stereoacuity resembling a monofixation syndrome. The clinicians should be aware of this association and assess the binocularity in patients with unilateral optic disc or macular anomalies. Conversely, patients with reduced binocularity and stereoacuity should be carefully evaluated for macular or optic nerve anomalies, if not associated with strabismus, anisometropia and eccentric fixation. Typical fundus picture, optical coherence tomography and multifocal electro retinogram of the patient would be instructive to a clinician.
Situs inversus; optic disc; monofixation syndrome; anisometropia; congenital optic disc anomaly
Situs inversus totalis is is a congenital anomaly associated with various visceral abnormalities, but there is no data about the relationship between secondary biliary cirrhosis and that condition. We here present a case of a 58 year-old female with situs inversus totalis who was admitted to our clinic with extrahepatic cholestasis. After excluding all potential causes of biliary cirrhosis, secondary biliary cirrhosis was diagnosed based on the patient's history, imaging techniques, clinical and laboratory findings, besides histolopathological findings. After treatment with tauroursodeoxycholic acid, all biochemical parameters, including total/direct bilirubin, alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase and gama glutamyl transferase, returned to normal ranges at the second month of the treatment. We think that this is the first case in literature that may indicate the development of secondary biliary cirrhosis in a patient with situs inversus totalis. In conclusion, situs inversus should be considered as a rare cause of biliary cirrhosis in patients with situs inversus totalis which is presented with extrahepatic cholestasis.
Situs inversus totalis; secondary biliary cirrhosis; tauroursodeoxycholic acid
Situs inversus of the abdominal organs in the presence of normally placed heart on the left side of the thorax is known as situs inversus with isolated levocardia. This rare condition is commonly associated with severe congenital defects of the heart. We report a case of situs inversus with levocardia in a 19-year-old asymptomatic male patient with completely normal heart on the left chest. Spiral computed tomography of the thorax and abdomen and echocardiographic studies revealed situs inversus of abdominal organs, normal heart (levocardia), mirrored left lungs, a midline liver, a left-sided inferior vena cava connecting to the right atrium, multiple splenic masses in the abdominal right upper quadrant, and aneurysmal dilatation of a splenic artery.
Levocardia; Heterotaxy syndrome
A classification of one type of congenital malformation previously reported (de la Cruz et al., 1967) is based on the integration of an embryological theory for ventricular inversions with the embryological concepts of trunco-conal malformations (de la Cruz and da Rocha, 1956). In that classification we consider that in each situs, either solitus or inversus ventricular inversions may be associated with: (a) normally arranged great vessels (not transposed); (b) transposition of the great vessels; (c) persistent truncus arteriosus. The patients had ventricular inversion without transposition of the great vessels in situs inversus.
The correct anatomical diagnosis was not foreseen but the physiopathological diagnosis was correct: pulmonary ischaemia associated with septal defects. In one case these facts were substantiated by catheterization and by angiocardiographic findings which led us to advise surgery. Haemodynamically isolated inversion of the ventricles is as severe a malformation as complete (not corrected) transposition of the great vessels. However, an operation of the anastomotic type between a systemic vessel and the narrow pulmonary artery seemed justified in these cases, as a means to convey more blood to the lungs and improve the saturation of the arterial blood. It was unsuccessfully carried out in one patient.
The anatomical, radiological, and electrocardiographic features which might aid in the diagnosis are analysed.
Cilia are microtubule based organelles that project from cells. Cilia are found on almost every cell type of the human body and numerous diseases, collectively termed ciliopathies, are associated with defects in cilia, including respiratory infections, male infertility, situs inversus, polycystic kidney disease, retinal degeneration, and Bardet-Biedl Syndrome. Here we show that Illumina-based whole-genome transcriptome analysis in the biflagellate green alga Chlamydomonas reinhardtii identifies 1850 genes up-regulated during ciliogenesis, 4392 genes down-regulated, and 4548 genes with no change in expression during ciliogenesis. We examined four genes up-regulated and not previously known to be involved with cilia (ZMYND10, NXN, GLOD4, SPATA4) by knockdown of the human orthologs in human retinal pigment epithelial cells (hTERT-RPE1) cells to ask whether they are involved in cilia-related processes that include cilia assembly, cilia length control, basal body/centriole numbers, and the distance between basal bodies/centrioles. All of the genes have cilia-related phenotypes and, surprisingly, our data show that knockdown of GLOD4 and SPATA4 also affects the cell cycle. These results demonstrate that whole-genome transcriptome analysis during ciliogenesis is a powerful tool to gain insight into the molecular mechanism by which centrosomes and cilia are assembled.
flagella; deflagellation; ZMYND10; NXN; SPATA4; GLOD4