Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by homozygous mutations in SACSgene. We present finding on MR imaging in 2 adult Italian siblings. According to the literature we have described same of typical MRI finding of autosomal recessive spastic ataxia of Charlevoix-Saguenay disease. We found slight differences in neuroimaging pattern in our patients with a similar genotype but different age and clinical severity, this suggest that brain MRI may provide potential biomarkers to assess disease progression.

Right-sided aortic arch with mirror image branching and situs solitus: a case of a 79 years old woman.

Right aortic arch with mirror image branching (RAMI) is a rare congenital defect of the aorta. The exact incidence of RAMI in the general population is unclear. In RAMI the first branch arising from the arch is the left innominate artery, followed by the right carotid artery and right subclavian arteries. We report a case of an adult female patient with RAMI discovered as an incidental finding during radiological investigations for suspected pulmonary embolism in emergency department. No other congenital malformations were reported. It is important to recognize congenital variants of the aortic arch, as they can have relevant implications for patients' prognosis and management. Therefore, being aware of these conditions is key to avoid any mistakes or surgical and endovascular complications.

Ultrasound-Guided Vacuum-Assisted Biopsy in Small Breast: A Cost-Saving Solution.

BACKGROUND: The study aimed to evaluate the feasibility and reliability of ultrasound-guided vacuum-assisted breast biopsy (US-VABB) for sampling of microcalcifications indicative of cancer when stereotactic vacuum-assisted breast biopsy cannot be performed because of reasons such as thin breast tissue, insufficient thickness at compression, and microcalcification situated close to the chest wall or in breast tissue of the axillary tail. PATIENTS AND METHODS: The study population was selected from among 187 patients with microcalcifications detected on mammogram. The findings were classified using the American College of Radiology criteria as Breast Imaging Reporting and Data System 3, 4, or 5. 30 Thirty were not eligible for stereotactic guidance because of reasons such as small breast size, compression thickness <2 cm, or microcalcification located in the axillary tails or close to chest wall. In 23 patients microcalcifications were detected at ultrasound, and US-VABB was performed. The other 7 patients underwent surgical biopsy. In the 23 patients who underwent US-VABB, multiple core samples were taken after a specimen mammography to ensure that microcalcifications were included. RESULTS: Biopsy was successful in all cases of US-VABB. The procedure was well tolerated, and there were no complications. CONCLUSION: US-VABB should be preferred over diagnostic surgical biopsy when microcalcifications are sonographically visible and stereotactic guidance is contraindicated. The procedure appears to be reliable and accurate, with added advantages such as low cost and absence of radiation exposure.

Incidentally discovered well-differentiated retroperitoneal liposarcoma with inguinal canal herniation: report of 2 cases.

Well-differentiated retroperitoneal liposarcomas are slow growing and low-grade tumors, reaching usually huge size before being symptomatic and so diagnosed, therefore with increase of the surgical risk and of the probability of dedifferentiation. Inguinal location of these tumors is unusual and rarely diagnosed.