In this retrospective study, the computed tomography (CT) archives of paranasal sinus examinations were reviewed and three cases of antroliths are presented. The archives of paranasal sinus CT studies of 1957 patients (1023 females, 934 males, mean age 36.5 years) were surveyed. CT studies were performed using 3 mm collimation and interval in the coronal, axial or both coronal and axial planes. Three out of 1957 patients demonstrated antroliths, all in the left maxillary sinus. Associated sinusitis was detected in all three patients. Only one patient was operated. The chemical analysis of the antrolith revealed it to be a calcium oxalate stone. All the relevant literature is reviewed and only 25 other cases of true antrolithiasis were encountered. The clinical and radiological features of antroliths, as well as differential diagnosis were discussed. Antrolithiasis should be considered in any case of sinusitis, that does not respond to appropriate medical therapy.

Abdominal cocoon, the idiopathic form of sclerosing encapsulating peritonitis, is a rare condition of unknown etiology that results in an intestinal obstruction due to total or partial encapsulation of the small bowel by a fibrocollagenous membrane. The early clinical features are nonspecific, are often not recognized and it is difficult to make a definite pre-operative diagnosis. Clinical suspicion may be generated by the recurrent episodes of small intestinal obstruction combined with relevant imaging findings and lack of other plausible etiologies. Surgery is important in the management of this disease. Careful dissection and excision of the thick sac with the release of the small intestine leads to complete recovery in the vast majority of cases. Here a case of abdominal cocoon in a 45 years old male is presented due to its rarity and difficulty in preoperative diagnosis.

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Hypoechogenic, heterogeneous thyroid gland may be strongly related to thyroiditis, which does not have any specific radiological findings. The sonographic finding of generalized parenchymal abnormality should alert the clinician to consider diffuse thyroid disease as the underlying cause and FNAB should be performed and a follow-up examination of these patients must be continued due to the risk of neoplastic disease of thyroid.

DWI can be an effective radiological method in the differentiation of benign and malignant breast lesions.

Objective : CAV1 encodes caveolin-1, a major protein of plasma membrane microdomains called caveolae, involved in several signalling pathways. Caveolin-1 is also located at the adipocyte lipid droplet. Heterozygous pathogenic variants of CAV1 induce rare heterogeneous disorders including pulmonary arterial hypertension and neonatal progeroid syndrome. Only one patient was previously reported with a CAV1 homozygous pathogenic variant, associated with congenital generalized lipodystrophy (CGL3). We aimed to further delineate genetic transmission, clinical, metabolic and cellular characteristics of CGL3. Design/Methods: In a large consanguineous kindred referred for CGL, we performed next-generation sequencing, as well as clinical, imagery and metabolic investigations. We studied skin fibroblasts from the index case and the previously reported patient with CGL3. Results: Four patients, aged 8 months to 18 years, carried a new homozygous p.(His79Glnfs*3) CAV1 variant. They all displayed generalized lipodystrophy since infancy, insulin resistance, low HDL-cholesterol and/or high triglycerides, but no pulmonary hypertension. Two patients also presented at the age of 15 and 18 years with dysphagia due to achalasia, and one patient had retinitis pigmentosa. Heterozygous parents and relatives (n=9) were asymptomatic, without any metabolic abnormality. Patients’ fibroblasts showed a complete loss of caveolae and no protein expression of caveolin-1 and its caveolin-2 and cavin-1 partners. Patients’ fibroblasts also displayed insulin resistance, increased oxidative stress and premature senescence. Conclusions: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.