Contrast-enhanced ultrasound (CEUS) for the evaluation of focal liver lesions - a prospective multicenter study of its usefulness in clinical practice.

PURPOSE: To assess the value of contrast-enhanced ultrasound (CEUS) for differentiating malignant from benign focal liver lesions (FLLs) and for diagnosing different FLL types. MATERIAL AND METHODS: CEUS performed in 14 Romanian centers was prospectively collected between February 2011 and June 2012. The inclusion criteria were: age > 18 years; patients diagnosed with 1 - 3 de novo FLLs on B-mode ultrasound; reference method (computed tomography (CT), magnetic resonance imaging (MRI) or biopsy) available; patient's informed consent. FLL lesions were characterized during CEUS according to the European Federation of Societies for Ultrasound in Medicine and Biology guidelines. For statistical analysis, indeterminate FLLs at CEUS were rated as false classifications. RESULTS: A total number of 536 cases were included in the final analysis, 344 malignant lesions (64.2 %) and 192 benign lesions (35.8 %). The reference method was: CT/MRI - 379 cases (70.7 %), pathological exam - 150 cases (27.9 %) and aspiration of liver abscesses - 7 cases (1.4 %). CEUS was conclusive in 89.3 % and inconclusive in 10.7 % of cases. To differentiate between malignant and benign FLLs, CEUS had 85.7 % sensitivity, 85.9 % specificity, 91.6 % positive predictive value, 77.1 % negative predictive value and 85.8 % accuracy. The CEUS accuracy for differentiation between malignant and benign liver lesions was similar in tumors with diameter ≤ 2 cm and those with diameter > 2 cm. CONCLUSION: CEUS represents a useful method in clinical practice for differentiating between malignant and benign FLLs detected on standard ultrasonography, and the results of this study are in concordance with previous multicenter studies: DEGUM (Germany) and STIC (France).

Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype.

UNLABELLED: Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction. Since the first description of the syndrome in 1959, there have never been reported cases of Alstrom syndrome with the occurrence of the Bardet-Biedl syndrome in their relatives, this case suggesting a close genetic link between these two ciliopathies. The presence of empty sella seems to be a rare morphologic finding in Alstrom syndrome although it has been documented in few Bardet-Biedl cases. CASE PRESENTATION: We report a case of a 20 -year-old caucasian male with hearing and visual loss, short stature, insulin resistant diabetes, dilated cardiomyopathy, hepatic and renal dysfunction, hypertension, and alopecia. By studying his family medical records we identified two relatives with suggestive clinical findings for Bardet Biedl syndrome. CONCLUSION: Analyzing the clinical traits of these patients we found that retinopathy, nephropathy and central obesity were present in all patients, suggesting a main anomaly in ciliary function controlling photoreception, renal and metabolic processes. The occurrence of similar clinical cases within a family further demonstrates the existence of a common pathologic cilliary mechanism, a genetic basis of phenotypic variability in seemingly monogenic disease and a functional link between rare disorders and common traits with overlapping clinical manifestations. Genetic studies in such patients may provide new data regarding the consequences of defective cilia and a possible identification of new gene mutations.