Asplenia Syndrome Research Articles

Congenital asplenia study: clinical and laboratory characterisation of adults with congenital asplenia.

Congenital asplenia is a rare disorder commonly associated with other visceral and cardiac congenital anomalies. Isolated congenital asplenia is even less common than syndromic forms. The risk of severe bacterial infections associated with asplenia is the most concerning clinical implication and carries a significant mortality risk. Prophylactic measures against the clinical syndrome known as overwhelming postsplenectomy infections (OPSI) include vaccination, prophylactic and emergency antibiotics and health education including fever management and travel advice. This case series describes fourteen adults with congenital asplenia and polysplenia syndrome, most of whom were diagnosed incidentally as adults, and outlines the nature of their diagnosis, clinical phenotype, family history and key pathology findings.

Fortuitous Diagnosis of Polysplenia Syndrome in an Adult with Mild Abdominal Pain: Case Report and Review of Literature

Abnormal arrangement of thoraco-abdominal anatomical structures and their vascular elements in association with dysmorphism, is called heterotaxia syndrome or situs ambiguous syndrome [3]. This syndrome is further dived into two main sets of anomaly bundles, on one hand bilateral left-sidedness or polysplenia syndrome and on the other hand bilateral right-sidedness or asplenia syndrome. It is viewed in literature as a spectrum ranging from situssolitus which is the normal distribution of organs to situsinvertustotalis, the mirror-image of the normal arrangement of organs inside the body and in between the twoentities, a wide range of malformations, as a result of a Disruption of axis determination during early embryonic: situs ambiguous .We are reporting a case of polysplenia syndrome discovered in a patient with only a mild diffuse abdominal pain.

Heterotaxy syndrome with accompanying azygos continuation of the inferior vena cava, patent ductus arteriosus and replaced common hepatic artery

Abnormal anatomical organization of thoraco-abdominal visceral organs and vascular structures is called “Heterotaxy Syndrome.” Heterotaxy is generally classified under two main headings as polysplenia and asplenia syndromes. Complex cardiac anomalies are closely associated with poor prognosis in the patient group with asplenia syndrome. On the other hand, cardiac anomalies are less common in polysplenic syndrome. It is particularly important to define the findings accurately in the planning of surgical and interventional treatment. We present the findings of a patent ductus arteriosus (PDA) patient with co-existent heterotaxy syndrome associated with abdominal anomalies, such as polysplenia, azygos continuation of interrupted inferior vena cava, liver with midline localization, short pancreas, preduodenal portal vein, replaced common hepatic artery (HA) originating from the superior mesenteric artery (SMA) and left sided superior mesenteric vein to the SMA. To the best of our knowledge, there is no previous report of HA originating from the SMA found together with PDA and heterotaxy syndrome.

Meropenem pharmacokinetics during extracorporeal membrane oxygenation and continuous haemodialysis: a case report

ObjectivesPharmacokinetic (PK) parameters can change significantly during extracorporeal membrane oxygenation (ECMO) and continuous haemodialysis. This case report describes the pharmacokinetics of a 3-h meropenem infusion in an infantile anuric patient on ECMO with continuous haemodialysis. CaseA 19-month-old female patient with asplenia syndrome was admitted to the paediatric intensive care unit for postoperative management of an extracardiac total cavopulmonary connection procedure. Veno-arterial ECMO and continuous haemodialysis were initiated on postoperative Day 2 for circulatory insufficiency due to septic shock and thrombosis of the inferior vena cava extending to the pulmonary artery. Blood and ascites cultures were positive for extended-spectrum β-lactamase-producing Escherichia coli, and 3-h meropenem infusions [120–300 mg/kg/day divided every 8 h (q8h)] were commenced. Following dose escalation to 300 mg/kg/day q8h, sustained negative blood cultures were confirmed. The estimated meropenem clearance and volume of distribution (Vd) were 2.21 mL/kg/min and 0.59 L/kg, respectively. These patient-specific PK parameters were used to predict the PK profile of various dosing regimens. Both 1-h and 3-h infusions of meropenem at 60, 120 and 200 mg/kg/day q8h predicted that the free drug concentration would remain above the minimum inhibitory concentration (fT>MIC) at an MIC of 1 μg/mL for >40% of the dosing interval. However, when the target was set at 100% fT>MIC, only a 3-h infusion of 200 mg/kg/day q8h could achieve the target in this patient despite the presence of anuria. ConclusionTo optimise meropenem dosing in paediatric patients on ECMO and continuous haemodialysis, further study and PK monitoring are warranted.

2770 A Unique Case of Bezoar and Incidental Situs Ambiguus

INTRODUCTION: Situs ambiguous refers to abnormal arrangement of thoracoabdominal organs along left-right body axis, and is associated with multiple complex congenital cardiac as well as non-cardiac anomalies. This abnormal arrangement is different from orderly arrangement seen in situs solitus or situs inversus. We report a unique case of incidental situs ambiguous discovered during management of aspiration pneumonia caused by gastric outlet obstruction. CASE DESCRIPTION/METHODS: 62-year-old gentleman presented with one month history of multiple episodes of non-bilious vomiting and watery diarrhea, two weeks of abdominal distension and discomfort. Semi-urgent esophagogastroduodenoscopy (EGD) revealed partially digested food particles with inadequate views (bezoar). Placement of a nasogastric tube (NGT) triggered gag reflux resulting in vomiting and aspiration of gastric contents, causing hypoxia needing emergent intubation. Chest x-ray revealed bilateral infiltrates with loss of lung volume on the right. Urgent bronchoscopy revealed food particles predominantly in right bronchus intermedius. Patient developed acute respiratory distress and septic shock from aspiration pneumonia. CT abdomen showed a grossly enlarged stomach (gastric outlet obstruction) on the right side of the abdomen (situs ambiguous) with bezoar. EGD revealed voluminous amount of residue in markedly distended stomach; three liters were suctioned using a large bore Edlich gastric lavage tube. Benign appearing tight stenosis was noted in the duodenal bulb. Biopsies were negative for Helicobacter pylori or lymphoma. Although endoscopic dilation of stricture was initially considered, gastrojejunostomy was performed to bypass the stricture given severity of illness and prolonged recovery. DISCUSSION: Situs ambiguus is classified into two groups. Group I has isomerism of right atrial appendage and is usually associated with absence of spleen (Asplenia syndrome). Group II has isomerism of left atrial appendage and is usually associated with multiple spleens (Polysplenia syndrome). Liver is usually centrally placed or may remain in right or left hypochondrium. Mortality up to 40% at a very young age up was reported. Our patient remained asymptomatic due to absence of cardiac anomalies. Edlich tube is a large bore 36Fr NGT, 36” long, with a closed tip and multiple eyes, a 140cc syringe with a quick connect adapter on the tube. It is used to irrigate or lavage the stomach and plays an essential role in breakdown and evacuation of bezoars.

Blood reservoir function in patients with Fontan circulation and asplenia syndrome.

Splanchnic circulation constitutes a major portion of the vasculature capacitance and plays an important role in maintaining blood perfusion. Because patients with asplenia syndrome lack this vascular bed as a blood reservoir, they may have a unique blood volume and distribution, which may be related to their vulnerability to the haemodynamic changes often observed in clinical practice. During cardiac catheterisation, the mean circulatory filling pressure was calculated with the Valsalva manoeuvre in 19 patients with Fontan circulation, including 5 patients with asplenia syndrome. We also measured the cardiac output index and circulatory blood volume by using a dye dilution technique. The blood volume and the mean circulatory filling pressure and the venous capacitance in patients with asplenia syndrome were similar to those in the remaining patients with Fontan circulation (85 ± 14 versus 77 ± 18 ml/kg, p = 0.43, 31 ± 8 versus 27 ± 5 mmHg, p = 0.19, 2.8 ± 0.6 versus 2.9 ± 0.9 ml/kg/mmHg, p = 0.86). Unexpectedly, our data indicated that patients with asplenia syndrome, who lack splanchnic capacitance circulation, have blood volume and venous capacitance comparable to those in patients with splanchnic circulation. These data suggest that (1) there is a blood reservoir other than the spleen even in patients with asplenia; (2) considering the large blood pool of the spleen, the presence of a symmetrical liver may represent the possible organ functioning as a blood reservoir in asplenia syndrome; and (3) if this is indeed the case, there may be a higher risk of hepatic congestion in patients with Fontan circulation with asplenia syndrome than in those without.

Development of acquired intrapulmonary venous anastomosis contributing to establishment of Fontan circulation

Pulmonary venous (PV) obstruction is associated with a poor prognosis, as well as a high risk of recurrence, following surgical treatment. It can also interfere with the successful completion of Fontan circulation in patients with complex congenital heart disease. A case of a patient who had right isomerism (also known as asplenia syndrome), total anomalous pulmonary venous connection (TAPVC), and a single right ventricle is presented. Although bilateral total occlusion of the inferior PVs was identified postoperatively, the formation of the anastomosis and collateral vessels into the superior and middle PVs enabled successful completion of Fontan circulation. Anastomoses and collateral flow of the PVs were found largely in the interlobar pleura and not in the lung parenchyma.

小胃症，食道裂孔ヘルニアを合併した無脾症候群にHunt-Lawrence pouchが有用であった1例

小胃症，食道裂孔ヘルニアを合併した無脾症候群にHunt-Lawrence pouchが有用であった1例

Characteristics and prognosis of interrupted inferior vena cava with azygous continuation

Objective: To explore the clinical characteristics of interrupted of the inferior vena cava with azygous continuation and the prognosis. Methods: Retrospective analysis of 21 fetuses diagnosed with interrupted inferior vena cava with azygous continuation among 28 567 pregnant women who underwent routine ultrasound scan. The clinical data, ultrasonographic features, genetic information and prognosis were collected. Results: Interrupted of the inferior vena cava with azygous continuation occurred in 21(0.07%, 21/28 567) of 28 567 patients. Three fetuses (14%, 3/21) complicated with heart and extracardiac malformations, including endocardiac cushion defect, single atrium and single ventricle, double superior vena cava, dextrocardia, asplenia syndrome, visceral heterotaxy, duodenal atresia; six fetuses (29%, 6/21) were associated with cardiac anomalies, such as hypoplastic left heart syndrome, double outlet right ventricle, pulmonary stenosis, ventricular septal defect, persistent left superior vena cava, endocardiac cushion defect and transposition of the great arteries; six cases (29%, 6/21) were only combined with extracardiac malformations, includingasplenia syndrome, visceral heterotaxy, duodenal atresia. Three fetuses (14%, 3/21) were nonorganic abnormalities included thickening of the right ventricle wall, fetal bradycardia, pericardial effusion, hydrops abdominis, increased peak systolic velocity/end diastolic velocity and single umbilical artery. Three fetuses (14%, 3/21) were isolated interrupted inferior vena cava with azygous continuation, but without other anomalies and 2 of them had normal fetal karyotype. Five cases (24%, 5/21) were successfully vaginal delivery, 1 case (5%, 1/21) had cesarean section. After 12-40 months follow-up, we didn't obeserve obviously abnormality, nor any chromosomal abnormality. Ten patients (48%, 10/21) opted for termination of the pregnancy and the autopsies were not done. Five cases (24%, 5/21) were lost to follow up. Conclusions: Interrupted inferior vena cava with azygous continuation are associated with cardiovascular and extracardiac anomalies, cardiac malformation and visceral heterotaxy are the most common anomalies. Visceral heterotaxy should be considered and fetal karyotype should be suggested. In the cases of isolated interrupted inferior vena cava with azygous continuation and normal karyotype, the outcome is favorable.

Polysplenia syndrome with duodenal and pancreatic dysplasia in a Holstein calf: a case report

BackgroundLaterality disorders of the abdominal organs include situs inversus totalis that mirrors the arrangements of all internal organs and heterotaxy syndrome (situs ambiguus) in which the thoracic or abdominal organs are abnormally arranged. Heterotaxy is often accompanied by multiple congenital malformations, and it generally comprises asplenia and polysplenia syndromes. To our knowledge, polysplenia syndrome has been reported in only three cattle, and computerized tomographic (CT) images of these animals were not obtained.Case presentationA six-month-old Holstein heifer had ruminal tympani and right abdominal distension. CT imaging showed that the rumen occupied the right side of the abdominal cavity, the omasum and abomasum occupied the left ventral side and the liver was positioned on the left. The colon and cecum were located at the left dorsum of the cavity, and the left kidney was located more cranially than the right. Postmortem findings revealed two spleens attached to the rumen. Significantly, the duodenum was too short to be divided into segments, except the cranial and descending parts, or flexures, except the cranial flexure, and the pancreas, which lacked a left lobe, was covered with mesojejunum. The liver comprised a relatively large right lobe and a small left lobe without quadrate and caudate lobes. The caudal vena cava that connected to the left azygous vein passed irregularly through the aortic hiatus of the diaphragm, and the common hepatic vein without the caudal vena cava passed through the caval foramen. Although the lungs and heart were morphologically normal, the right atrium received three major systemic veins. Polysplenia syndrome was diagnosed based on the CT and postmortem findings.ConclusionWe defined the positions of the abdominal organs and morphological abnormalities in various organs of a calf with polysplenia syndrome based on CT and postmortem findings. These findings will improve understanding of the malpositioning and malformations that can occur in the organs of cattle with polysplenia syndrome.

心房臓器錯位症候群 (無脾症候群) に合併した食道裂孔ヘルニアの2例

心房臓器錯位症候群 (無脾症候群) に合併した食道裂孔ヘルニアの2例

Fatal cardiac anomaly of unguarded mitral orifice with asplenia syndrome

We report the case of a newborn baby with an unguarded mitral orifice associated with asplenia syndrome, double-outlet right ventricle, dysplastic tricuspid valve, and pulmonary stenosis. This case was accompanied by severe tricuspid regurgitation and severe right ventricular hypertrophy. The patient had a fatal clinical course due to severe hypoxia and congestive heart failure. Unguarded mitral orifice is a rare disease in which there has been no previous report of lethal clinical course during the neonatal period. Prior reports stated that unguarded mitral orifice was a new constellation of defects and that its etiology and embryology could be classified in the same category because of similar associated malformations of double-outlet right ventricle and pulmonary stenosis or atresia. However, the present case was diagnosed on autopsy as also having asplenia syndrome. Therefore, it is possible that the genetic etiology of unguarded mitral orifice in this case was different from cases of non-heterotaxy.<Learning objective: Unguarded mitral orifice is a rare disease that might be associated with asplenia syndrome and dysplastic tricuspid valve. If unguarded mitral orifice is associated with such defects, the clinical course can be fatal. Therefore, when this diagnosis is recognized, the physician should explain the possibility of neonatal death and plan the treatment of such a case to include grief therapy for the family.>

Surgical Management of Hiatal Hernia in Children with Asplenia Syndrome.

Purpose Patients with asplenia syndrome (AS) are likely to have upper gastrointestinal tract malformations such as hiatal hernia. This report discusses the treatment of such conditions. Methods Seventy-five patients with AS underwent initial palliation in our institution between 1997 and 2013. Of these, 10 patients had hiatal hernia. Of the patients with hiatal hernia, 6 had brachyesophagus and 7 had microgastria. Results Of the 10 patients with hiatal hernia, 9 underwent surgery in infancy (7 before Glenn operation, 2 after Glenn operation). Two underwent typical Toupet fundoplication, and the other 7 underwent atypical repair including reduction of the stomach. Two patients with atypical repair showed recurrence of hernia and required reoperation. Three patients required reoperation due to duodenal obstruction. Duodenal obstruction occurred due to preduodenal portal vein or abnormal vessels compressing the duodenum. Obstructive symptoms were not seen in any cases preoperatively. Conclusions In patients with hiatal hernia, typical fundoplication is often difficult because most have concomitant brachyesophagus, microgastria, and hypoplasia of the esophageal hiatus. However, we should at least reduce the stomach to the abdominal cavity as early as possible to increase thoracic cavity volume and allow good feeding. Increasing the volume of the thoracic cavity thus makes Glenn and Fontan circulations more stable. Duodenal obstruction secondary to vascular anomalies is also common, so the anatomy in the area near the duodenum should be evaluated pre- and intraoperatively.

A case of right sided cardiosplenic heterotaxy syndrome

Heterotaxy is said to exist when the internal thoracoabdominal organs demonstrate abnormal arrangement across the left-right axis of the body. It is categorized into asplenia and polysplenia syndrome variants. Asplenia syndrome is characterized by complex congenital heart defects, asplenia and abdominal heterotaxy. Evidence with regard to the incidence of isomerism is sparse. However, recent studies show that it is commoner in Asians compared to Western populations. Most cases of right isomerism are recognized in early infancy because of the presence of severe forms of complex cyanotic heart disease. Infants with right isomerism invariably have obstruction of the pulmonary outflow tract, as well as common mixing at atria and ventricles, and pulmonary atresia is present in 67% of cases. Here we report an unusual and relatively late presentation of an infant with right sided cardiosplenic heterotaxy syndrome associated with severe cyanotic congenital heart disease.

Exchange transfusion and continuous hemodiafiltration for a pneumococcal meningitis and septic pediatric patient with asplenia syndrome: a case report

Exchange transfusion and continuous hemodiafiltration for a pneumococcal meningitis and septic pediatric patient with asplenia syndrome: a case report

Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome.

Thoraco-abdominal viscera have unique morphological asymmetry, unlike the body's external organs. Heterotaxy syndrome is a disorder in which there is a loss of normal left to right asymmetry of thoraco-abdominal viscera and their naturally proscribed spatial relationship. It has multiple anatomical alterations, culminating into physiological and hemodynamic consequences. It is divided into two groups on the basis of morphology of the two atrial appendages. These subgroups are - 1) Isomerism of right atrial appendage (asplenia syndrome); 2) Isomerism of left atrial appendage (polysplenia syndrome); Patients from group I, usually have severe cardiac malformations and present early. They may have duct dependent lesions and eventually may undergo Fontan surgery. However, extracardiac anomalies are more common in group II. All the patients must be evaluated in detail to rule out anomalies like gut-malrotation. Patients must be provided with special care for their susceptibility to infection due to absence of spleen or presence of splenic malfunction. Majority of these patients may have genetic link and may present in families. Hence, genetic evaluation is necessary before assuming long term outcome.

Comparison of situs ambiguous patterns between heterotaxy syndromes with polysplenia and asplenia

ObjectivesTo compare the differences of visceral anomalies shown by computed tomography (CT) in patients with polysplenia syndrome (PS) or asplenia syndrome (AS). MethodsThis retrospective study was approved by the institutional review board, and informed consent was waived. Thirty-one patients with PS and 29 patients with AS underwent chest-abdominal CT. The evaluated CT findings were as follows: the orientation of stomach, liver and gallbladder; short pancreas; azygous/hemiazygous continuation; ipsilateral position of the inferior vena cava and aorta; preduodenal portal vein; abnormal confluence of renal vein (defined as renal vein drains to the inferior vena cava or azygous/hemiazygous vein at the upper level of celiac trunk origin); gastrointestinal malrotation; and tracheobronchial tree. ResultsAzygous/hemiazygous continuation was seen in 74% (20 of 27)/0% (0 of 28) of PS/AS (P<0.0001), bilateral hyparterial bronchi in 75% (24 of 32)/5% (1 of 22), bilateral eparterial bronchi in 9% (3 of 32)/95% (21 of 22), ipsilateral position of the inferior vena cava and aorta in 59% (16 of 27)/89% (25 of 28), and abnormal confluence of renal vein in 7% (2 of 27)/57% (16 of 28), respectively. No significant differences were found in the other anomalies. ConclusionSignificant differences in anomalous systemic venous connections and tracheobronchial anomaly were observed between PS and AS. Abnormal confluence of renal vein is relatively rare anomalous venous connections, but frequently observed in AS.

Perinatal and Infant Outcomes of Prenatal Diagnosis of Heterotaxy Syndrome (Asplenia and Polysplenia)

Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS from 1995 to 2011. Of 154 fetuses with HS, 61 (40%) had asplenia syndrome (ASP) and 93 (60%) had polysplenia syndrome (PSP). In the ASP group, 22 (36%) patients were elected for termination of pregnancy, 4 (10%) had fetal death, and 35 of 39 (90%) continued pregnancies were live born. In the PSP group, 12 (13%) patients were elected for termination of pregnancy, 5 (6%) had fetal death (4 with bradyarrhythmia), and 76 of 81 (94%) continued pregnancies were live born. Bradyarrhythmia was the only predictor of fetal death. In the live-born ASP group, 43% (15 of 35) died, 7 because of pulmonary vein stenosis, 4 postoperatively, and 4 because of noncardiac causes. In the live-born PSP group, 13% (10 of 76) died, 5 postoperatively, 2 from bradyarrhythmia, 1 from a cardiac event, and 2 from noncardiac causes. Pulmonary vein stenosis and noncardiac anomalies were independent risk factors for postnatal death. Only 8% of ASP patients achieved biventricular circulation, compared with 65% of PSP patients. In the live-born cohort, the 5-year survival rate was 53% for ASP and 86% for PSP. In conclusion, most PSP patients are currently alive with biventricular circulation in contrast with few ASP patients. Bradyarrhythmia was the only predictor of fetal death. Pulmonary vein stenosis and noncardiac anomalies were predictors of postnatal death.

無脾症候群における重症細菌感染症（髄膜炎・敗血症）の検討：早期診断の重要性とワクチン予防に対する考察

背景：無脾症患者は細菌感染，特に肺炎球菌に罹患しやすく，時に致死的となる．わが国では2010年より7価肺炎球菌結合型ワクチンが使用可能となり小児での予防効果が期待されている． 目的：7価肺炎球菌結合型ワクチン導入前の時期での，無脾症患者における重症細菌感染症の臨床像を明らかにし，新しいワクチンを含めた今後の対策について検討すること． 対象と方法：1988～2009年までに出生し，当院で治療を受けた無脾症患者のうち，外来経過観察中に重症細菌感染症（髄膜炎・敗血症）を起こした7例の臨床像を後方視的に検討した． 結果：無脾症患者44例中7例（16％）で，重症細菌感染症を認めた．感染症発症時の年齢は3ヵ月～4歳で，7例中5例は2歳未満であった．初発症状は全例が発熱，不機嫌，哺乳不良など非特異的な症状であった．短時間に急速な悪化を呈し，入院時には心肺停止，ショック状態，意識障害などの重篤な症状を認め，死亡率は57％であった．起因菌は肺炎球菌が7例中5例（71％）を占めた．7価肺炎球菌結合型ワクチンが使用可能であれば，予防できた可能性がある例が存在した． 結論：無脾症患者における重症細菌感染症（髄膜炎・敗血症）は，短時間に急速な悪化を呈し，死亡率が高い．早期診断が困難な例が存在し，小児循環器医のみならず，救急外来を含め無脾症患者の診療に関わる全てのスタッフへの啓発と体制作り，および患者家族への教育が重要である．無脾症患者には7価肺炎球菌結合型ワクチン等のワクチンを早期より積極的に接種すべきである．7価肺炎球菌結合型ワクチンの普及により侵襲性肺炎球菌感染症の減少が期待されるものの，ワクチン株以外の血清型の感染が存在し，完全には予防できないことも認識すべきである．

Non-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption: A case report and literature review

Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise, and maternal hypovolemic shock at 35 weeks of gestation. Only 3 non-mosaic trisomy 16 fetuses, including this case, have been reported to survive into the second or third trimester. Furthermore, this fetus would be the first case of complete trisomy 16 manifesting as asplenia syndrome.