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. The second phenotype, reported only in 8 patients homozygous for different non-Amish mutations (c.373G > A, c.580T > C, c.910G > A, c.869T > A, c.576G > C), is characterized by bilateral striatal necrosis and peripheral polyneuropathy. We report a new patient with the non-Amish SLC25A19 phenotype showing compound heterozygosity for the new variant c.673G > A and the known mutation c.373G > A. CASE PRESENTATION: The natural history of non-Amish SLC25A19 deficiency is characterized by acute episodes of fever-induced encephalopathy accompanied by isolated lactic acidosis and Leigh-like features at magnetic resonance imaging (MRI). Acute episodes are prevented by high-dose thiamine treatment (600 mg/day). As shown in the new case, both mild clinical signs and basal ganglia involvement can precede the acute encephalopathic onset of the disease, potentially allowing treatment anticipation and prevention of acute brain damage. Peripheral axonal neuropathy, observed in 7 out of 9 patients, is not improved by thiamine therapy. In two early treated patients, however, peripheral neuropathy did not occur even on long-term follow-up, suggesting a potential preventive role of treatment anticipation also at the peripheral level. CONCLUSIONS: Non-Amish SLC25A19 deficiency is an extra-rare cause of Leigh syndrome responsive to thiamine treatment. Ex adiuvantibus thiamine treatment is mandatory in any patient with Leigh-like features.

[Pulmonary tuberculosis in diagnostic imaging: the great mime.] / La tubercolosi polmonare nella diagnostica per immagini: il grande mimo.

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]. / Correlazione clinico-radiologica delle patologie diffuse benigne della pleura.

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. The clinical features of pleural disease are often nonspecific and may require complex imaging and histology for diagnosis. The integration of informations derived from different methods (CXR, CT and US) is extremely important to an appropriate diagnosis.