SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.

Objectives: Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly.

[Pulmonary tuberculosis in diagnostic imaging: the great mime.].

Pulmonary tuberculosis (TB) is nowadays one of the most common causes of infectious disease-related morbility and mortality worldwide. The differential diagnosis between TB and some others conditions is an emerging problem, particularly challenging when TB imaging mimicks sarcoidosis, lymphoproliferative disorders and pulmonary neoplasms. In these cases, the correct diagnoses can be made with certainty only with trans-bronchial or CT guided biopsy.

[Diffuse benign pleural diseases: clinical and radiological correlation].

The aim of this paper is to provide an effective and comprehensive summary of the main inflammatory pleural diseases, providing the radiologist an overview of key points in CXR, CT and US, and their main aspects in the differential diagnosis. The diffuse benign pleural diseases are frequently found during the first-level radiological diagnostic approach, but they are often difficult to classify because of their poor characterization. Pleural effusion or thickening can have a benign or malignant cause and use of the appropriate imaging techniques is crucial to a correct diagnosis.