Multimodality imaging of Abernethy malformation.
Ontology highlight
ABSTRACT:
SUBMITTER: El-Medany AY
PROVIDER: S-EPMC9304201 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Portosystemic shunts are rare congenital malformations that come to attention due to various hepatic and extrahepatic manifestations. Management of this malformation is dictated by the presence and adequacy of intrahepatic portal radicals. Staged occlusion of the shunt is recommended in patients with severely hypoplastic portal radicals. We describe a novel transcatheter technique that we improvised for staged occlusion of Abernethy malformation in a 2-year-old girl.
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Project description:BackgroundAbernethy malformation, also known as congenital extrahepatic portosystemic shunt, is an uncommon malformation resulting from aberrant development of the portal venous system. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene. It mainly affects the exocrine glands of the respiratory, digestive and reproductive systems. It is considered extremely rare in the Asian population. We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF.Case summaryA 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis, and chest computed tomography (CT) showed bronchiectasis. Whole exome sequencing was performed for the patient, yielding findings that revealed a compound heterozygous variant of the CFTR gene: c.233_c.234insT/p.Trp79fsTer3 (maternal origin); c.2909G>A/p.Gly970Asp (paternal origin). CF was diagnosed. The physician's attention was drawn to the presence of splenomegaly during disease progression. Abdominal enhanced CT revealed splenomegaly, compression of the left kidney, and multiple tortuous dilated vascular shadows were seen at the splenic hilum, which flowed back into the left renal vein and portal vein, suggesting Abernethy malformation type II. Intraoperatively, the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing, and the pathology of liver biopsy showed hypoplastic, dilated or absent portal vein branches, both of which supported the diagnosis of Abernethy malformation type II. This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature.ConclusionCoexisting Abernethy malformation and CF are rare. Detailed medical history information, abdominal enhanced CT, venography and genetic testing contribute to diagnosis as well as differential diagnosis.
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Project description:Abernethy malformation (Type 1B) presenting in a 6-year-old boy with hematochezia and hematuria: a case report Abernethy malformation is a rare congenital vascular abnormality defined by the diversion of portal blood flow to the inferior vena cava or its tributaries. Clinical presentations include neonatal cholestasis, liver tumors, and encephalopathy but variables in timing and symptomatology. Herein, we present a 6-year-old boy was referred to our hospital with complaints of hematochezia, hematuria, fecal, and urinary incontinence. A diagnosis of type 1b malformation was made depending on magnetic resonance angiography and cardiac catheterization findings, which demonstrated that the superior mesenteric vein and splenic vein joined to form a common trunk measuring 38 mm diameter and then drained into the dilated inferior vena cava with the absence of portal vein abnormalities in the liver. With further investigations, we indicated the presence of many arteriovenous malformations and urogenital abnormalities. The patient was managed conservatively.
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Project description:Cardiotoxicity represents a rising problem influencing prognosis and quality of life of chemotherapy-treated patients. Anthracyclines and trastuzumab are the drugs most commonly associated with development of a cardiotoxic effect. Heart failure, myocardial ischemia, hypertension, myocarditis, and thrombosis are typical manifestation of cardiotoxicity by chemotherapeutic agents. Diagnosis and monitoring of cardiac side-effects of cancer treatment is of paramount importance. Echocardiography and nuclear medicine methods are widely used in clinical practice and left ventricular ejection fraction is the most important parameter to asses myocardial damage secondary to chemotherapy. However, left ventricular ejection decrease is a delayed phenomenon, occurring after a long stage of silent myocardial damage that classic imaging methods are not able to detect. New imaging techniques including three-dimensional echocardiography, speckle tracking echocardiography, and cardiac magnetic resonance have demonstrated high sensitivity in detecting the earliest alteration of left ventricular function associated with future development of chemotherapy-induced cardiomyopathy. Early diagnosis of cardiac involvement in cancer patients can allow for timely and adequate treatment management and the introduction of cardioprotective strategies.
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Project description:Purpose: Carotid web (CaW) is an underrecognized cause of cryptogenic stroke in young patients. The optimal imaging for CaW is unknown. We aim to evaluate the diagnostic accuracy of diverse imaging modalities for the diagnosis of CaW. Methods: Retrospective analysis of institutional neurovascular database was performed to identify patients with multimodal (CT angiogram-CTA, digital subtraction angiogram-DSA, and/or ultrasound-US) imaging diagnosis of CaW or atherosclerosis. Baseline clinical demographics were recorded. Blinded image analysis was performed for each imaging modality by separate readers. Discrepancies were settled by consensus. Two-sided Cohen's Kappa (κ) coefficient was used to evaluate the inter-rater agreement for the etiological diagnosis between imaging modalities. Results: Thirty patients/60 carotids were evaluated by CTA and 55 carotids were included. Patients with symptomatic CaW (n = 20), compared to individuals with atherosclerosis (n = 10), were younger (49 ± 9 vs. 60 ± 8 years; p < 0.01), more commonly female (75% vs. 30%; p = 0.01), and less frequently presented vascular risk factors: Hypertension (40% vs. 100%; p < 0.01), hyperlipidemia (0% vs. 50%; p < 0.01), diabetes (10% vs. 40%; p = 0.05), and smoking (5% vs. 70%; p < 0.01). High inter-rater correlation strength existed for CTA (n = 55; κ = 0.88; p < 0.0001) and DSA (n = 28; κ = 0.86, p < 0.0001) readers for lesion diagnosis while US inter-rater agreement was lower (κ = 0.553; p = 0.001). Across modalities CTA and DSA shared very high strength of agreement (κ = 0.92; p < 0.0001), compared to a less pronounced agreement between US and CTA (κ = 0.553; p = 0.001). The strength of correlation between DSA-CTA was significantly more robust as compared to US-CTA (Z = 3.58; p = 0.0003). Conclusion: CTA and DSA demonstrated comparable and superior performance as compared to US in the diagnosis of CaW.
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Project description:Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli's disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli's disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli's syndrome. The combination of Abernethy malformation and Caroli's syndrome has not been reported previously.We present the case of a 23-year-old female who was found to have both type II Abernethy malformation and Caroli's syndrome. Radiological imaging was performed, including computed tomography with three-dimensional reconstruction and magnetic resonance imaging with (magnetic resonance cholangiopancreatography (MRCP), which revealed a side-to-side portocaval shunt, intrahepatic bile duct dilation, congenital hepatic fibrosis, and renal cysts. In addition, PKHD1 (polycystic kidney and hepatic disease 1) gene mutational analysis revealed a paternally inherited heterozygous missense mutation (c.1877A > G, p.Lys626Arg). A liver biopsy confirmed the pathological features of Caroli's syndrome.To our knowledge, this is the first reported case of a patient with both type II Abernethy malformation and Caroli's syndrome diagnosed using a comprehensive approach that included imaging, mutational analysis, and liver biopsy. Additionally, this is the second reported case to date of an Asian patient presenting with liver and renal disorders with the same paternally inherited PKHD1 missense mutation.
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Project description:Congenital portosystemic shunt (CPSS) is a congenital anomaly resulting in partial or complete diversion of the portal blood into the systemic circulation. The literature on the histological changes in livers of patients with CPSS is limited. Liver histology of 22 consecutive patients managed in our institution between 2001 and 2016 was reviewed. Twenty-one patients were children at the time of diagnosis. Thirty-two specimens were available and consisted of three explant livers and 29 biopsy samples from 19 patients. Sixteen samples were from wedge biopsies taken at the time of shunt closure. Thirteen were from core needle biopsies taken during clinical work-up. A variable proportion of portal tracts contained prominent thin-walled channels (PTWCs) and arterio-biliary dyads. The proportion of portal tracts containing triads, arterio-biliary dyads and biliary monads varied considerably in the different samples. Dilated inlet venules, increase in the number of portal arteries or the presence of portal arteries of increased size, deposition of copper-associated protein, sinusoidal dilatation, capillarization and intralobular individual arteries were present. Physiological nuclear vacuolation of periportal hepatocytes was absent in most samples from our paediatric patients. Presence of PTWCs, arterial-biliary dyads, increased arterial profiles in portal tracts and lobule and lack of the physiological periportal vacuolated hepatocytes in children are the most characteristic histological changes of CPSS in the liver periphery.
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