BackgroundDespite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the microstructural integrity of WM pathways across the whole brain in a cohort of paediatric ETPKU patients compared with healthy controls (HCs), by collecting DTI-MRI (diffusion tensor magnetic resonance imaging) data and diffusion values (mean diffusivity (MD), radial diffusivity (RD) and fractional anisotropy (FA)).MethodsDTI-MRI data and diffusion values (MD, RD, FA) from WM tracts across the whole brain were analized using Tract Based Spatial Statistics (TBSS), in 15 paediatrics TPKU patients (median age: 12 years) and compared with 11 HCs. Areas showing abnormal values in the patient group were correlated (Pearson) with age, lifetime Phe values, last year median and mean Phe, concurrent Phe values in plasma, urine neurotransmitters status biomarkers, and with a processing speed task.ResultsETPKU showed bilaterally decreased MD values compared with HCs in the body and splenium of the corpus callosum, superior longitudinal fasciculus, corona radiata and in the posterior limb of the internal capsule. RD values followed a similar pattern, although decreased RD values in PKU patients were also found in the anterior limb of the internal capsule and in the cerebral peduncle. Decreased MD and RD values within the aforementioned regions had significant negative correlations with age, last year median and mean Phe and concurrent Phe values. No correlations were found with monoamines in urine or processing speed task.ConclusionsETPKU patients showed MD and RD values significantly decreased across the whole brain when compared with HCs, and this damage was associated with high Phe values and the age of patients. Despite this microstructural damage, no affectation in processing speed was observed in patients with good metabolic control. DTI-MRI sequences could be used as a technique to quantify WM damage that is difficult to be detect in T1 or T2-weighted images, but also to quantify damage of WM through the follow up of patients with poor metabolic control in prospective studies.
OBJECTIVE Real-time, MRI-guided laser interstitial thermal therapy (MRgLITT) has been reported as a safe and effective technique for the treatment of epileptogenic foci in children and adults. After the recent approval of MRgLITT by the European Medicines Agency in April 2018, the authors began to use it for the treatment of hypothalamic hamartomas (HHs) in pediatric patients with the assistance of a robotic arm. In this study, the authors report their initial experience describing the surgical technique, accuracy of the robotic arm, safety, and efficacy. METHODS The laser fiber was placed with the assistance of the stereotactic robotic arm. The accuracy of the robotic arm for this procedure was calculated by comparing the intraoperative MRI to the preoperative plan. Common demographic and seizure characteristics of the patients, laser ablation details, complications, and short-term seizure outcomes were prospectively collected. RESULTS Sixteen procedures (11 first ablations and 5 reablations) were performed in 11 patients between 15 months and 17 years of age (mean age 6.4 years) with drug-resistant epilepsy related to HHs. The mean target point localization error was 1.69 mm. No laser fiber needed to be repositioned. The mean laser power used per procedure was 4.29 W. The trajectory of the laser fiber was accidentally ablated in 2 patients, provoking transient hemiparesis in one of these patients. One patient experienced postoperative somnolence and syndrome of inappropriate antidiuretic hormone secretion, and 2 patients had transient oculomotor (cranial nerve III) palsy. Fifty-four percent of the patients were seizure free after the first ablation (mean follow-up 22 months, range 15–33 months). All 5 patients who experienced an epilepsy relapse underwent a second treatment, and 4 remain seizure free at least 5 months after reablation. CONCLUSIONS In the authors’ experience, the robotic arm was sufficiently accurate for laser fiber insertion, even in very young patients. MRgLITT appears to be an effective treatment for selected cases of HH. MRgLITT for HH is a minimally invasive procedure with appealing safety features, as it allows delivery of energy precisely under real-time MRI control. Nonetheless, complications may occur, especially in voluminous HHs. The amount of delivered energy and the catheter cooling system must be closely monitored during the procedure. A larger sample size and longer follow-up duration are needed to judge the efficacy and safety of MRgLITT for HH more rigorously. This initial experience was very promising.
Parotid gland lesions in children can be divided into benign or malignant. The age of the patient helps narrow the differential diagnosis, with vascular and congenital lesions being more frequent in the 1st year of life, while solid tumors are more frequent in older children. Inflammatory disease usually has rapid onset in comparison with that of neoplastic or congenital processes, which have more gradual clinical evolution. Currently, multiple imaging techniques are available to study the parotid region, such as US, CT, and MRI. However, it is still a challenge to distinguish nonmalignant lesions from malignant ones. US is the first-line diagnostic approach in children to characterize the morphology and vascularity of these lesions. CT in children may be indicated for evaluation of abscesses or sialolithiasis. MRI is the imaging modality of choice for investigating the nature of the lesion and its extent. In addition to complete and detailed clinical information, knowledge of parotid gland anatomy and characteristic radiologic features of parotid disorders is essential for optimal radiologic evaluation and avoiding unnecessary interventional diagnostic procedures or treatment. This article illustrates a variety of entities (congenital, inflammatory, vascular, neoplastic) that can occur in the parotid gland, highlighting the most frequent radiologic patterns of manifestation and correlating them with clinical, surgical, and pathologic findings. RSNA, 2018.
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