Caroli disease combined with Banti syndrome in a woman: a case report.

Caroli disease is a rare congenital malformation that predisposes to segmental cystic dilatation of the intrahepatic bile ducts. Banti syndrome is characterized by persistent splenomegaly due to chronic congestion, resulting in a low hematocrit and ultimately leading to pancytopenia. In this report, we describe a 29-year-old woman who presented with a >20-year history of hepatitis B surface antigen positivity and a >1-year history of recurrent fatigue and malaise. On examination, the patient had abdominal distension with marked splenomegaly (7 cm below the ribs) and ascites with tenderness of the abdominal muscles to palpation. A complete blood count showed a low white blood cell count, red blood cell count, and hemoglobin concentration. During the course of treatment, the patient developed multiple symptoms of pancytopenia and concomitant splenomegaly, and she was discharged after total splenectomy with good recovery. The combination of Banti syndrome and Caroli disease results in severe symptoms of portal hypertension.

Left-sided portal hypertension: Update and proposition of management algorithm.

Left-sided or segmental portal hypertension (SPHT) is a rare entity, most often associated with pancreatic disease or antecedent pancreatic surgery. The starting point is splenic vein obstruction secondary to local inflammation or, less often, extrinsic compression. SPHT leads to splenomegaly and development of collateral porto-systemic venous circulation. SPHT should be suspected in patients with pancreatic history who present with episodic upper gastrointestinal bleeding and splenomegaly with normal liver function tests. The most common clinical presentation is major upper gastrointestinal bleeding secondary to rupture of esophageal and/or gastric varices. At the present time, there are no management recommendations for SPHT, particularly when the patient is asymptomatic. In patients with upper gastro-intestinal bleeding, hemostasis can be obtained either by medical or interventional means according to patient status and available resources. For symptomatic patients, splenectomy is the reference treatment. Recently, less invasive, radiologic procedures, such as splenic artery embolization, have been developed as an alternative to surgery. Additionally, sonography-guided endoscopic hemostasis can also be envisioned, leading to the diagnosis and treatment of the lesion by elastic band ligation or by glue injection into the varices during the same procedure. The goal of this article is to describe the pathophysiological mechanisms behind SPHT and its clinical manifestations and treatment, based on a review of the literature. Because of the absence of recommendations for the management of SPHT, we propose a decisional algorithm for the management of SPHT based on the literature.

Influence of splenomegaly on aortic and liver parenchymal CT numbers during contrast-enhance CT in patients with cirrhosis.

INTRODUCTION: To compare CT (computed tomography) values for enhancement of the abdominal aorta and liver parenchyma during dynamic contrast enhancement (CE) CT in cirrhotic patients with and without splenomegaly (SM). METHODS: We considered 258 patients (83 males and 46 females for the splenomegaly group, and 83 males and 46 females for the control group) for this retrospective study. We measured CT values in the abdominal aorta and hepatic parenchyma during the hepatic arterial (HAP) and portal venous (PVP) phases. The aortic CE at HAP and the hepatic parenchymal CE at PVP were compared between the two groups. For success rate of scans, we also calculated the optimal CE rates (>280 HU in the abdominal aorta and >50 HU in the hepatic parenchyma) for each group. RESULTS: In the SM group, the CE for abdominal aorta was decreased during the aortic phase for a dynamic CE-CT (p < 0.05). When evaluating the success rates, they were found to be 65.1 % and 58.9 % in the SM group and 81.4 % and 72.3 % in the non-SM group (p < 0.05). CONCLUSION: The success rate of scans and CE for the abdominal aorta during the aortic phase exhibited a significant decrease during dynamic CE-CT scans on patients with SM. Patients with SM may have reduced diagnostic ability with typical contrast injection protocols. IMPLICATIONS FOR PRACTICE: It may be necessary to change the injection rates and contrast medium volume during CE-CT depending on the presence or absence of SM.

Clinical features of systemic lupus erythematosus patients with splenomegaly: focussed on the cytopenias.

This study aimed to investigate the clinical features of splenomegaly, mainly focussing on cytopenia, in patients with systemic lupus erythematosus (SLE). Cytopenia was commonly observed in 111 SLE patients with splenomegaly (n = 79, 71.2%). During the follow-up period, two patients developed haematologic malignancy after the diagnosis of SLE and splenomegaly, but no patients experienced severe complications (e.g. splenic rupture) related to splenomegaly.

A rare disease in adult women: Gaucher disease.

Gaucher disease is a rare, autosomal recessive disorder caused by inborn errors of metabolism. Globally, more than 27 million people are born each year, and approximately 19,000 neonates are born with lysosomal storage disease. We report a rare case of Gaucher disease in an adult female patient of non-consanguineous parents in a subtropical area of Jiangxi Province, China. This area has a high prevalence of schistosomiasis. The diagnosis of this case posed a great challenge because of the possible differential diagnoses of pancytopenia with hepatomegaly and giant splenomegaly. The key component of the patient's diagnosis was her medical history in which it was documented that her brother had died of hepatocellular carcinoma of unknown origin. We diagnosed the patient through a combination of a pathological biopsy and imaging plus the patient's medical history.

CT Rule-in and Rule-out Criteria for Clinically Significant Portal Hypertension in Chronic Liver Disease.

Background The value of CT in assessment of clinically significant portal hypertension (CSPH) has not been well determined. Purpose To evaluate the performance of CT features that have been associated with portal hypertension for diagnosing CSPH in patients with chronic liver disease (CLD). Materials and Methods This retrospective study included patients with CLD who underwent contrast-enhanced CT and subsequent hepatic venous pressure gradient (HVPG) measurement within 3 months at two tertiary institutions from January 2001 to December 2019. Two readers independently evaluated the presence of gastroesophageal varix, spontaneous portosystemic shunt (SPSS), and ascites on CT images. Splenomegaly at CT was determined using three methods, as follows: personalized or fixed volume criteria, based on spleen volume as measured by a deep learning algorithm, or manually measured spleen diameter. The diagnostic performance of these findings alone or in combination for detecting CSPH (HVPG ≥10 mm Hg) was evaluated. Results A total of 235 patients (mean age, 53.2 years ± 13.0 [SD]; 155 male patients), including 110 (46.8%) with CSPH, were included. Detection of CSPH according to the presence of both splenomegaly and at least one other CT feature (ie, gastroesophageal varix, SPSS, and ascites) achieved specificities of 94.4%-97.6%, whereas detection of CSPH according to the presence of any feature (ie, splenomegaly, gastroesophageal varix, SPSS, or ascites) achieved sensitivities of 94.5%-98.2%. When employing the former as rule-in criteria with the absence of splenomegaly, gastroesophageal varix, SPSS, and ascites as rule-out criteria for CSPH, 171-185 (range, 72.8%-78.7%) of 235 patients were correctly classified as either having CSPH or not, seven to 13 (range, 3%-5.5%) of 235 patients were incorrectly classified, and 42-54 (range, 17.9%-23%) of 235 patients were unclassified. Conclusion The presence or absence of splenomegaly, gastroesophageal varix, SPSS, and/or ascites on CT images may be useful for ruling in and ruling out CSPH in patients with CLD. © RSNA, 2023 Supplemental material is available for this article. See also the editorial by Fraum in this issue.

How to suspect the presence of high-risk esophageal varices and when to start endoscopic surveillance in children with biliary atresia?

BACKGROUND AND AIM: Portal hypertension determines the outcome of children with biliary atresia (BA) and is common even after a successful Kasai portoenterostomy (KPE). However, there are no clear-cut guidelines on the age of starting surveillance and the modality (endoscopy vs non-invasive tests [NITs]). In this cohort study, we analyzed our database to find out the utility of NITs in detecting high-risk esophageal varices in BA. METHODS: From June 2010 to May 2022, consecutive children of BA who underwent upper gastrointestinal (UGI) endoscopy were included. Esophageal varices were classified as high-risk (grade II with red-color signs or grade III or IV irrespective of red-color signs. NITs such as splenomegaly (clinical and USG), platelet count, aspartate transaminase to platelet ratio index (APRI), and platelet-to-spleen diameter ratio were compared between cases with high-risk and low-risk varices. RESULTS: A total of 110 children, 75 boys (66 successful KPE and 44 failed/KPE not performed) were enrolled. The median age at KPE was 85 days (IQR 63-98). Thirteen (11.8%) children presented with UGI bleeding. The first endoscopy revealed gastroesophageal varices in 75.4% of cases, and 32% of them had high-risk varices. Multivariate analysis revealed failed KPE, history of UGI bleeding, bigger spleen size (> 3.5 cm), lower platelet count (< 150 000), and higher APRI (> 2) are independent predictors of the presence of high-risk esophageal varices. CONCLUSION: Endoscopy is the best in predicting the presence of high-risk varices that might bleed; hence, early surveillance endoscopy should be started in children with splenomegaly, thrombocytopenia, and high APRI score to prevent variceal bleeding.

Portal Dynamics After Living Donor Liver Transplant in Pediatric Recipients: A 10-Year Follow-Up Retrospective Study.

BACKGROUND: It may be difficult for pediatric patients to evaluate the impact of liver transplantation (LT) on splenomegaly due to the natural growth course. The long-term dynamics of portal vein (PV) size and PV flow after LT in pediatric patients are unclear. We aimed to evaluate the long-term transition of the splenic size, PV size, and PV flow velocity in pediatric patients who underwent successful living donor liver transplantation (LDLT) and survived >10 years. METHODS: From October 2004 to December 2010, 39 pediatric patients (25 boys; 14 girls) underwent LDLT, received pre-LDLT and post-LDLT computed tomography scans and long-term ultrasound sonography follow-up, and survived >10 years without additional intervention at our institution. We analyzed the short- to mid-term and long-term impact of LDLT on splenic size, PV size, and PV flow velocity over time. RESULTS: The PV diameter increased throughout the 10-year follow-up (P < .001). The PV flow velocity increased 1 day after LDLT (P< .001); proceeded to decrease 3 days after LDLT, reaching a low point 6 to 9 months after LDLT; and remained stable throughout the 10-year follow-up. Regression of the splenic volume at 6 to 9 months after LDLT (P < .001) was noted. However, the splenic size steadily increased on long-term follow-up. CONCLUSIONS: Although LDLT has a significant short-term reduction effect on splenomegaly, the long-term transitional trend of the splenic size and PV diameter may increase along with children's growth. The PV flow reached a stable status 6 to 9 months after LDLT and remained so until 10 years after LDLT.

Achados ultrassonográficos abdominais relacionados à dengue em um hospital do noroeste paulista / Abdominal ultrasound findings related to dengue in a hospital in northwest são paulo

Introdução: De evolução aguda, a dengue é uma doença infecciosa febril, arbovirose provocada pela picada do mosquito aedes aegypt, atualmente representada por quatro sorotipos virais. A infecção pelo vírus da dengue pode ser assintomática ou sintomática. Quando sintomática causa doença de amplo espectro clínico, incluindo desde formas oligossintomáticas até quadros graves, podendo levar ao óbito. Trata-se, portanto, de um problema de saúde pública nacional, responsável por inúmeras hospitalizações e óbitos, anualmente. Objetivos: A proposta do atual estudo baseia se em descrever os principais achados ultrassonográficos abdominais encontrados em pacientes com quadro sugestivo de dengue e demonstrar o valor da ultrassonografia como ferramenta preditiva na avaliação de casos de agravo. Material e Método: Estudo retrospectivo, descritivo por meio do qual se realizou a análise dos laudos de imagem abdominal de pacientes com casos sugestivos de dengue, atendidos em um hospital-escola, em Catanduva-SP, no primeiro semestre de 2022, submetidos a ultrassom abdominal na data de atendimento e cujos valores obtidos foram compilados em tabelas. Resultados: Os achados de 102 ultrassonografias analisadas apontam espessamento da parede da vesícula biliar (15,8%), líquido livre na cavidade abdominal e/ou pélvica (10,9%), esplenomegalia (10,0%), hepatomegalia (2,0%) e dilatação das vias biliares intra e extra-hepáticas (1,0%). Conclusão: Os achados ultrassonográficos abdominais são uma ferramenta adjuvante útil na avaliação de sinais de alarme, como ascite e visceromegalias, em pacientes com quadro sugestivo de dengue, especialmente a hemorrágica, bem como na detecção precoce da gravidade e da progressão da doença, portanto, um preditor de severidade.

Introduction: Of acute evolution, dengue is a febrile infectious disease, arbovirose caused by the bite of the mosquito Aedes aegypt, currently represented by four viral serotypes. Dengue virus infection may be asymptomatic or symptomatic. When symptomatic causes disease of broad clinical spectrum, including from oligosymptomatic forms to severe conditions, which can lead to death. It is therefore a national public health problem, responsible for numerous hospitalizations and deaths, annually. Objectives: The proposal of the current study is based on describing the main abdominal ultrasound findings found in patients with suggestive of dengue and demonstrate the value of ultrasound as a predictive tool in the evaluation of cases of illness. Material and Method: Retrospective, descriptive study through which the analysis of abdominal imaging reports of patients with cases suggestive of dengue, attended at the Padre Albino Hospital, Catanduva-SP, in the first half of 2022, was performed submitted to abdominal ultrasound at the date of care and whose values were compiled in tables. Results: The findings of 102 ultrasonographies analyzed indicate thickening of the gallbladder wall (15.8%), free fluid in the abdominal and/or pelvic cavity (10.9%), splenomegaly (10.0%), hepatomegaly (2.0%) and dilation of the extra biliary ways (1.0%). Conclusion: Abdominal ultrasonographic findings are a useful adjuvant tool in the evaluation of warning signs, such as ascites and visceromegaly, in patients with suggestive of dengue, especially hemorrhagic, as well as in the early detection of disease severity and progression, therefore a predictor of severity

Introducción: Con una evolución aguda, el dengue es una enfermedad infecciosa febril, un arbovirus causado por la picadura del mosquito Aedes aegypt, actualmente representado por cuatro serotipos virales. La infección por el virus del dengue puede ser asintomática o sintomática. Cuando es sintomático, provoca una enfermedad con un amplio espectro clínico, que incluye desde formas oligosintomáticas hasta casos graves, que pueden conducir a la muerte. Es, por tanto, un problema de salud pública nacional, responsable de numerosas hospitalizaciones y muertes anualmente. Objetivos: El propósito del presente estudio se basa en describir los principales hallazgos ecográficos abdominales encontrados en pacientes con síntomas sugestivos de dengue y demostrar el valor de la ecografía como herramienta predictiva en la evaluación de casos de enfermedad. Material y Método: Estudio descriptivo retrospectivo mediante el cual se analizó los informes de imágenes abdominales de pacientes con casos sugestivos de dengue, atendidos en el Hospital Padre Albino, Catanduva-SP, en el primer semestre de 2022, a quienes se les realizó ecografía abdominal en la fecha del servicio, y cuyos valores obtenidos fueron recopilados en tablas. Resultados: Los hallazgos de 102 ecografías analizadas indican engrosamiento de la pared vesicular (15,8%), líquido libre en cavidad abdominal y/o pélvica (10,9%), esplenomegalia (10,0%), hepatomegalia (2,0%) y dilatación de las vías biliares intra y extrahepáticas (1,0%). Conclusión: Los hallazgos de la ecografía abdominal son una herramienta coadyuvante útil en la evaluación de signos de alarma, como ascitis y visceromegalia, en pacientes con cuadro sugestivo de dengue, especialmente dengue hemorrágico, así como en la detección precoz de la gravedad y progresión de la enfermedad, por lo tanto, un predictor de gravedad.

First case report of splenomegaly with splenic infarction due to aortic graft infection.

BACKGROUND: Diagnosis of aortic graft infections (AGI) is challenging. Here, we report a case of AGI with splenomegaly and splenic infarction. CASE PRESENTATION: A 46-year-old man who underwent total arch replacement for Stanford type A acute aortic dissection one year prior presented to our department with fever, night sweat, and a 20-kg weight loss over several months. Contrast-enhanced computed tomography (CT) revealed splenic infarction with splenomegaly, fluid collection, and thrombus around the stent graft. Positron emission tomography-CT (PET-CT) revealed abnormal 18F-fluorodeoxyglucose uptake in the stent graft and spleen. Transesophageal echocardiography revealed no vegetations. The patient was diagnosed with an AGI and underwent graft replacement. Blood and tissue cultures in the stent graft yielded Enterococcus faecalis. After the surgery, the patient was successfully treated with antibiotics. CONCLUSIONS: Splenic infarction and splenomegaly are the clinical findings of endocarditis but are rare in graft infection. These findings could be helpful to diagnose graft infections, which is often challenging.

Spleen volume and length determined by computed tomography impact outcome after allogeneic stem cell transplantation for myelofibrosis.

Splenomegaly is a hallmark of myelofibrosis (MF), and reports on the impact of spleen size on the outcome of allo-HSCT have been conflicting, possibly due to differences in methods of assessment. We retrospectively analysed the impact of spleen volume and length measured by computed tomography on allo-HSCT outcome in 93 patients, 74% of whom had prior ruxolitinib treatment. Median spleen volume and length were 1.58 dm3 and 20 cm, respectively. We found a strong correlation between spleen volume and length (Pearson's r = 0.95, p < 0.001), Spearman (rho = 0.96, p < 0.001). After a median follow-up of 41.7 months, 5-year overall and disease-free survival were 66% and 59%, respectively. Spleen size did not impact overall survival or non-relapse mortality. Larger spleen volume and length as continuous variables were associated with slower platelet and leucocyte engraftment and a higher risk of disease relapse in univariate and multivariate analyses. Spleen length measured precisely by imaging is a good surrogate for spleen volume. In the era of JAK inhibitors, larger spleen size reflects advanced disease in MF and is associated with an increased risk of relapse but has no impact on non-relapse mortality and overall survival after allo-HSCT.

Spleen size greater than 9.76 cm may impact the treatment strategy for blunt splenic injury in adults - A retrospective analysis of experience at a tertiary trauma center in Taiwan.

BACKGROUND/OBJECTIVE: The present study investigated the impact of splenomegaly on the treatment outcomes of blunt splenic injury patients. METHODS: All blunt splenic injury patients were enrolled between 2010 and 2018. The exclusion criteria were age less than 18 years, missing data, and splenectomy performed at another hospital. The patients were divided into two groups based on the presence of splenomegaly, defined as a spleen length over 9.76 cm on axial computed tomography. The primary outcome was the need for hemostatic interventions. RESULTS: A total of 535 patients were included. Patients with splenomegaly had more high-grade splenic injuries (p = 0.007). Hemostatic treatments (p < 0.001) and transarterial embolization (p = 0.003) were more frequently required for patients with splenomegaly. Multivariate analysis showed that male sex (p = 0.023), more packed red blood cell transfusions (p = 0.001), splenomegaly (p = 0.019) and grade 3-5 splenic injury (p < 0.001) were predictors of hemostatic treatment. The failure rate of transarterial embolization was not significantly different between the two groups (p = 0.180). The sensitivity and specificity for splenomegaly in predicting hemostatic procedures were 48.8% and 66.5%, respectively. The positive and negative predictive values were 62.8% and 52.9%, respectively. The overall mortality rate was 3.7%. CONCLUSION: Splenomegaly is an independent predictor for the requirement of hemostatic treatments in blunt splenic injury patients, especially transarterial embolization. Transarterial embolization is as effective for blunt splenic injury patients with splenomegaly as it is for those with a normal spleen.

Use of Point-of-Care Handheld Ultrasound for Splenomegaly in United States-Bound Refugees: A Novel Technology with Far-Reaching Implications.

Ultrasound (US) is an invaluable clinical tool. New point-of-care US technology holds great promise for hard-to-reach and mobile populations such as refugees. The implementation of US in unique and challenging settings has been hindered by cost, fragility of equipment, need for uninterrupted electricity, training, and difficulty in sharing data/image files impeding quality assurance. The recent development of more flexible, durable, high-quality, low-cost, handheld US technology has offered increased potential to address many of these barriers. We describe a pilot program using a new point-of-care US technology to identify and monitor splenomegaly in United States-bound Congolese refugees. This experience and model may hold lessons for planning and development of similar approaches in other hard-to-reach mobile populations.

Malignant Infantile Osteopetrosis with Bone Marrow Involvement.

Osteopetrosis (Marble bone disease) is a very rare congenital genetic disease of skeleton, resulting from defective bone resorption, due to functionally defective osteoclast, leading to accumulation of excessive bone mass. Malignant infantile osteopetrosis (MIO) is one of the varieties of osteopetrosis, which is fatal and is diagnosed in early infancy. Malignant infantile osteopetrosis is present with abnormal bone remodeling, hematological abnormities, features of extramedullary hematopoiesis. Radiology is the key of diagnosis. In this case, we present a 5-monthold male infant diagnosed as malignant infantile osteopetrosis, who presented with bronchopneumonia, anemia, thrombocytopenia, hepatosplenomegaly, failure to thrive (FTT).

Spleen size in homozygous sickle cell disease: trends in a birth cohort using ultrasound.

OBJECTIVES: To provide ultrasound baselines for spleen length in homozygous sickle cell disease (HbSS) and in normal controls with a HbAA genotype. METHODS: The Jamaican cohort study identified 311 babies with HbSS and 246 matched HbAA controls during the screening of 100,000 consecutive deliveries in Kingston, Jamaica from 1973 to 1981. Ultrasonography commenced in 1988 when the youngest patients were aged 6 years at which time deaths, emigrations and default had reduced the numbers to 206 HbSS and 89 controls. It continued annually until 2000. RESULTS: The spleen was visualized in all HbAA controls but in only 1103/2138 (52%) scans in HbSS. Where available, mean splenic lengths were significantly lower in HbSS (77-103 mm in males, 70-83 mm in females) compared to normal controls (89-101 mm in males, 86-95 mm in females). Assessed by statistical modelling after adjusting for body height, the splenic ratio (splenic length/body height) declined over the age range 12-20 years in HbSS, consistent with progressive splenic fibrosis. Genetic factors known to inhibit sickling, α thalassemia and fetal hemoglobin level (HbF) significantly reduced the decline in splenic ratio. Clinical splenomegaly was an insensitive measure of splenic enlargement as only 50% of patients aged 18 years and above with spleens measuring ≥150 mm on ultrasonography had palpable spleens. CONCLUSIONS: An age-related decline in splenic length occurred in HbSS and occurred more slowly with genetic factors known to inhibit sickling. The standards provided may be of value in assessing minor degrees of subclinical acute splenic sequestration. ADVANCES IN KNOWLEDGE: These are the first standards available for splenic length in HbSS. They may be useful in detecting red cell sequestration, not apparent from clinical splenomegaly and also provide a model for identifying factors inhibiting vaso-occlusion.

The significance of spleen size in children with sickle cell anemia.

It is well established that splenic dysfunction occurs in early childhood in sickle cell anemia (SCA), although the determinants and consequences of splenic injury are not fully understood. In this study, we examined spleen size and splenic function in 100 children with SCA aged 0-16 years at King's College Hospital in London. Spleen size was assessed by abdominal ultrasound (US) and splenic function by pitted red blood cells (PIT counts). In our cohort, 5.6% of children aged 6-10 years and 19.4% of children aged 11-16 years had no visible spleen on US (autosplenectomy). Splenomegaly was common in all age groups, with 28% of children overall having larger spleens than the average for their age. Only one child had a PIT count suggesting preserved splenic function. We found no correlation between hemoglobin F levels and spleen size, nor was there any difference in spleen size between children treated with or without hydroxyurea. Although there was a trend toward increased spleen length in children with co-inherited α-thalassemia, this did not reach statistical significance. Finally, we found a strong association between erythrocyte deformability measured with oxygen gradient ektacytometry, spleen size, and PIT counts. In conclusion, our results do not agree with the general perception that most children with SCA undergo autosplenectomy within the first decade of life and indicate that loss of erythrocyte deformability contributes to loss of splenic filtration capacity in SCA, as well as phenotypical variations in spleen size.