Giorgio Conte

Clinical findings in a patient with FARS2 mutations and early‐infantile‐encephalopathy with epilepsy

The FARS2 gene encodes the mitochondrial phenylalanyl‐tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. Mutations in FARS2 have been reported in only few patients, but a detailed description of seizures, electroencephalographic patterns, magnetic resonance imaging findings, and long‐term follow‐up is still needed. We provide a clinical report of a child with FARS2‐related disease manifesting drug‐resistant infantile spasms associated with focal seizures. By comparative genomic hybridization analysis we identified a heterozygous microdeletion in the short arm of chromosome 6, inherited from the mother, that encompasses the first coding exon of FARS2. By sequencing of the FARS2 gene we identified a variant c.1156C>G; p.(R386G), inherited from the father. By using standard spectrophotometric techniques in skin fibroblasts, we found a combined abnormality of complexes I and IV of the mitochondrial respiratory chain. The main clinical features of the patient included axial hypotonia, mild distal hypertonia, and psychomotor delay. The magnetic resonance imaging showed microcephaly, frontal cerebral atrophy, and signal changes of dentate nuclei. At the age of 3 years and 6 months, the patient was still under treatment with vigabatrin and he has been seizure free for the last 23 months.

Signal intensity change on unenhanced T1-weighted images in dentate nucleus and globus pallidus after multiple administrations of gadoxetate disodium: an intraindividual comparative study

PurposeTo investigate whether there is an increased signal intensity (SI) of dentate nucleus (DN) and globus pallidus (GP) on unenhanced T1-weighted magnetic resonance imaging (MRI), in patients who had undergone multiple administrations of gadoxetate disodium.Materials and methodsWe retrospectevely included stage III melanoma patients, who had been previously enrolled in a trial of adjuvant therapy and who had undergone whole-body contrast-enhanced MRIs with gadoxetate disodium every three months for their follow-up. The SI ratios of DN-to-pons and GP-to-thalamus on unenhanced T1-weighted images were calculated. The difference in SI ratios between the first and the last MRI examinations was assessed and a linear mixed model was performed to detect how SI ratios varied with the number of administrations.ResultsEighteen patients were included in our study. The number of gadoxetate disodium administrations ranged from 2 to 18. Paired t-test did not show any significant difference in DN-to-pons (p=0.21) and GP-to-thalamus (p=0.09) SI ratios by the end of the study. DN-to-pons SI ratio and GP-to-thalamus SI ratio did not significantly increase with increasing the number of administrations (p=0.14 and p=0.06, respectively).ConclusionMultiple administrations of gadoxetate disodium are not associated with increased SI in DN and GP in the brain.Key Points• Gadolinium may deposit in the human brain after multiple GBCA administrations.• Gadolinium deposition is associated with increased T1W signal intensity• Increase in signal intensity is most apparent within the DN and GP• Multiple administrations of gadoxetate disodium do not increase T1W signal

The role of ultrasound-guided transcutaneous tru-cut biopsy in diagnosing untreated and recurrent laryngo-hypopharyngeal masses

OBJECTIVE To evaluate the diagnostic performance of Ultrasound-guided Transcutaneous Tru-Cut biopsy (USGTCB) of laryngo-hypopharyngeal masses suspicious for malignancy. Furthermore we investigated whether USGTCB is accurate for both untreated masses and suspected recurrences. MATERIALS AND METHODS From August 2004 to July 2014 we prospectively enrolled 66 patients for a total of 68 USGTCBs: 38 USGTCB were performed for a suspicious untreated mass and in 30 for a suspected recurrence. We calculated the sensitivity, specificity, positive predictive value and negative predictive value for all procedures and separately for untreated masses and suspected recurrences. RESULTS USGTCB diagnosed 57 malignancies (51 squamous cell carcinomas, 6 other tumors) and 11 benign lesions. There were no false positives reported, whereas five false negatives were observed: two in patients with an untreated mass, three in patients with a suspected recurrence. Overall, the sensitivity of the technique was 91.9% (95% confidence interval [CI]: 82.2-97.3%); the specificity was 100% (95% CI: 54.1-100%); positive and negative predictive values were 100% (95% CI: 93.7-100%) and 54.5% (95% CI: 23.5-83.1%) respectively, with similar performances in untreated masses and suspected recurrences of SCC. CONCLUSION USGTCB is an effective procedure for the histological diagnosis of laryngo-hypopharyngeal masses suspicious for malignancy in patients showing contraindications to biopsy via microlaryngoscopy under general, with similar performances for untreated masses and suspected recurrences.

Sarcoidosis with bone involvement mimicking metastatic disease at 18F-FDG PET/CT: problem solving by diffusion whole-body MRI

Bone involvement has been reported in 1–13% of patients with sarcoidosis. Both 18F-fluorodeoxyglucose (18F-FDG) Positron Emission Tomography/Computed Tomography (PET/CT) and conventional magnetic resonance imaging (MRI) are sensitive in detecting sarcoidosis bone lesions, but are not always reliable in differentiating sarcoidosis bone lesions from metastatic disease, thus often requiring bone biopsy. We describe the use of diffusion whole-body MRI for bone assessment in a patient with breast cancer and sarcoidosis, presenting with bone marrow lesions mimicking metastatic disease at 18F-FDG PET/CT. In our case, diffusion whole-body MRI represented a useful tool for bone assessment and overcame the limitation of 18F-FDG PET/CT in discriminating inflammatory bone marrow involvement from metastatic disease.

Comparison of whole-body diffusion-weighted magnetic resonance and FDG-PET/CT in the assessment of Hodgkin's lymphoma for staging and treatment response

Computed tomography (CT), 18F-fluorodeoxyglucose positron emission tomography (FDG-PET), and hybrid FDG-PET/CT are the most commonly used diagnostic tools for the initial staging and treatment response assessment of lymphomas [1]. The aim of this report is to compare the correlations between functional imaging markers derived from FDG-PET/CT and whole-body, diffusion-weighted magnetic resonance imaging (DW-MRI) in a young patient affected by Hodgkin’s lymphoma (HL).

MR Imaging in Sudden Sensorineural Hearing Loss. Time to Talk

SUMMARY: Sudden sensorineural hearing loss is defined as acute hearing loss of the sensorineural type of at least 30 dB over 3 contiguous frequencies that occurs within a 72-hour period. Although many different causative factors have been proposed, sudden sensorineural hearing loss is still considered “idiopathic” in 71%–85% of cases, and treatments are empiric, not based on etiology. MR imaging implemented with a 3D FLAIR sequence has provided new insights into the etiology of sudden sensorineural hearing loss. Herein, we review the current management trends for patients with sudden sensorineural hearing loss, from the initial clinical diagnosis to therapeutic strategies and diagnostic work-up. We focused primarily on MR imaging assessment and discuss the relevance that MR imaging findings might have for patient management, pointing out different perspectives for future clinical research.

Variability of Forebrain Commissures in Callosal Agenesis: A Prenatal MR Imaging Study

BACKGROUND AND PURPOSE: Agenesis of the corpus callosum, even when isolated, may be characterized by anatomic variability. The aim of this study was to describe the types of other forebrain commissures in a large cohort of randomly enrolled fetuses with apparently isolated agenesis of the corpus callosum at prenatal MR imaging. MATERIALS AND METHODS: All fetuses with apparent isolated agenesis of the corpus callosum undergoing prenatal MR imaging from 2004 to 2014, were evaluated for the presence of the anterior or a vestigial hippocampal commissure assessed in consensus by 2 pediatric neuroradiologists. RESULTS: Overall, 62 cases of agenesis of the corpus callosum were retrieved from our data base. In 3/62 fetuses (4.8%), no forebrain commissure was visible at prenatal MR imaging, 23/62 fetuses (37.1%) presented with only the anterior commissure, and 20/62 fetuses (32.3%) showed both the anterior commissure and a residual vestigial hippocampal commissure, whereas in the remaining 16/62 fetuses (25.8%), a hybrid structure merging a residual vestigial hippocampal commissure and a rudiment of the corpus callosum body was detectable. Postnatal MR imaging, when available, confirmed prenatal forebrain commissure findings. CONCLUSIONS: Most fetuses with apparent isolated agenesis of the corpus callosum showed at least 1 forebrain commissure at prenatal MR imaging, and approximately half of fetuses also had a second commissure: a vestigial hippocampal commissure or a hybrid made of a hippocampal commissure and a rudimentary corpus callosum body. Whether such variability is the result of different genotypes and whether it may have any impact on the long-term neurodevelopmental outcome remains to be assessed.

Contrast-enhanced ultrasound sonography optimises the assessment of lymph nodes in oncology

Ultrasound sonography (US) plays an important role in the assessment of lymph nodes in oncology. However, ultrasound findings are often equivocal in not allowing the differentiation of reactive from metastatic lymph nodes. Here, we present the successful use of contrast-enhanced US in the assessment of a metastatic lymph node, improving the performance of conventional US and optimising the US-guided percutaneous biopsy.

Brain-injured Survivors of Monochorionic Twin Pregnancies Complicated by Single Intrauterine Death: MR Findings in a Multicenter Study

Purpose To describe and classify the range of brain injuries present at prenatal, in-utero magnetic resonance (MR) imaging in co-twin survivors of monochorionic (MC) twin pregnancies complicated by single intrauterine death (SIUD). Materials and Methods This retrospective, observational study from six tertiary fetal medicine centers that perform tertiary-level prenatal in-utero MR studies reviewed cases in which prenatal in-utero MR imaging had shown a brain injury in a surviving co-twin of a twin pregnancy with a MC component complicated by SIUD. Results Forty-two surviving MC twins were described. The primary distinction of brain abnormalities was into nonfocal and focal lesions. The nonfocal lesions included periventricular leukomalacia (group 1; two fetuses), generalized encephalomalacia (group 2; nine fetuses), posterior encephalomalacia (group 3; seven fetuses), and bilateral parasagittal and perisylvian injury (group 4; three fetuses). The focal lesions included nonhemorrhagic lesions (group 5; 14 fetuses) and hemorrhagic lesions (group 6; seven fetuses). Focal brain lesions were more likely to be found in the surviving MC pregnancies complicated by twin-twin transfusion syndrome (TTTS) (odds ratio, 2.4; 95% confidence interval: 1.3, 18.5; P = .01) and in fetuses that underwent an obstetric intervention (odds ratio, 2.8; 95% confidence interval: 1.8, 23.6; P = .006). Conclusion Brain injury of the surviving co-twin after SIUD in MC pregnancies is usually of ischemic origin and spares the brainstem and cerebellum. Focal brain lesions are more frequent in pregnancies complicated by TTTS or in those where an intervention has been performed.

Diagnostic accuracy of surface coil MRI in assessing cartilaginous invasion in laryngeal tumours: Do we need contrast-agent administration?

ObjectivesTo assess the diagnostic accuracy of MRI performed using surface coils, with and without contrast medium, in predicting thyroid and cricoid cartilage infiltration in laryngeal tumours, and to investigate whether the radiologist’s experience influences diagnostic accuracy.MethodsWe retrospectively enrolled patients with biopsy-proven laryngeal cancer who had undergone preoperative staging MRI and open surgery. Two radiologists with different experience (senior vs. junior) reviewed the MR images without (session A1) and with contrast medium (session A2) separately. We calculated the accuracy of MRI with and without contrast medium in detecting infiltration of the thyroid and cricoid cartilages. Interobserver agreement was calculated by Cohen’s Kappa (k).ResultsForty-two patients were enrolled, for a total of 62 cartilages. In session A1 the senior and junior radiologists showed an accuracy of 85% and 71%, respectively, with k = 0.53 (0.33–0.72). In session A2 the senior and junior radiologists showed an accuracy of 84% and 77%, respectively, with k = 0.68 (0.49-0.86).ConclusionsStaging of laryngeal tumours with surface coil MRI showed good diagnostic accuracy in assessing cartilaginous infiltration. We observed similar values of diagnostic accuracy for the analysis performed with and without contrast medium for the senior radiologist.Key Points• Surface coil MRI demonstrated good accuracy in assessing laryngeal cartilage invasion.• The radiologist’s experience can influence the diagnostic accuracy.• Gadolinium administration may increase interobserver concordance.