Age-related findings on MRI in neurofibromatosis type 1.
ABSTRACT T2 hyperintensities (T2H) on MRI are the most common CNS lesions in individuals with neurofibromatosis type 1 (NF1).
The aim was to determine the frequency, signal characteristics and localization of T2H at different ages. In addition, we examined the sensitivity of different MR imaging sequences in detecting these lesions.
We studied prospectively a cohort of children, adolescents and young adults with NF1 using T2-volume (T2-V) and conventional MRI sequences. Lesions were designated as either discrete or diffuse, and the region of signal abnormality was recorded. A total of 103 patients were studied (age range 8.0-25.4 years, mean 13.9 years).
The frequency, size, and intensity of T2H decreased with age in the basal ganglia (BG) and the cerebellum/brainstem (CB/BS). The majority of thalamic and CB/BS lesions were diffuse. Of the total cohort, 80% had diffuse bilateral hippocampal hyperintensities and 18.4% had hemispheric lesions best demonstrated on FLAIR; there was no significant difference in the frequency or signal intensity of hemispheric lesions with age.
Lesions in the cerebral hemispheres and hippocampus imaged by MR do not change in prevalence over time, suggesting a different pathological basis from the lesions in the in BG and CB/BS that resolve with age. FLAIR and T2-V sequences are more sensitive in detecting lesions than standard T2-weighted sequences.
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ABSTRACT: Purpose: The purpose of this study is to compare two types of sequences for brain MR examination of uncooperative and cooperative patients. For each group of patients, the pairs of sequences that were compared were two T2‐weighted (T2‐W) fluid attenuated inversion recovery (FLAIR) sequences with different k‐space trajectories (conventional Cartesian and BLADE) and two T2‐TSE weighted (T2‐W) with different k‐space trajectories (conventional Cartesian and BLADE). Methods: Twenty three consecutive unccoperative patients and forty four cooperative patients, who routinely underwent brain MRI examination, participated in the study. Both qualitative and quantitative analyses were performed based on the signal‐to‐noise ratio (SNR), contrast‐to‐noise ratio (CNR), and relative contrast (ReCon) measures of normal anatomic structures. The qualitative analysis was performed by experienced radiologists. Also, the presence of motion artifacts, other artifacts (e.g. Gibbs, susceptibility artifacts, phase encoding from vessels) and pulsatile flow artifacts was evaluated. Results: In the uncooperative group of patients, BLADE sequences were superior to the corresponding conventional sequences in all the cases. Furthermore, the differences were found to be statistically significant in almost all the cases. In the cooperative group of patients, BLADE sequences were superior to the conventional sequences with the differences of the CNR and ReCon values in nine cases being statistically significant. Furthermore, the BLADE sequences eliminated motion and other artifacts and T2 Flair BLADE sequences eliminated pulsatile flow artifacts. Conclusion: BLADE sequences (T2 TSE and T2 Flair) should be used in brain MR examinations of uncooperative patients. In cooperative patients, T2 TSE BLADE sequences may be used as part of the routine protocol and orbital examinations. T2 Flair BLADE sequences may be used optionally in examinations of AVM, orbits, hemorrhages, ventricular lesions, lesions in the frontal lobe, periventricular lesions, lesions in regions close to artifacts and lesions in posterior fossa.Medical Physics 06/2013; 40(6):141. DOI:10.1118/1.4814180 · 3.01 Impact Factor
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ABSTRACT: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous mani-festations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early inter-vention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava. Neurofibromatosis, genetic disorder, variable clinical manifestation, diagnostic criteria, genetic counselling, malignancy, follow-up, broad cooperation with specialists neurofibromatóza typu 1, variabilné klinické prejavy, diagnostické kritériá, genetické poradenstvo, tumor, klinické sledovanie, multidisciplinárny prístup Keywords Kľúčové slová Abstract Received February 20, accepted April 20, 2014
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ABSTRACT: Neurofibromatosis-1 (NF1) is one of the most common single-gene autosomal dominant disorders. In addition to significant medical complications, learning and attention problems are two of the most commonly reported difficulties in the NF1 population. Given that executive dysfunction often contributes to both learning and attention problems, the goal of the current study was to examine relations between executive and academic skills for adolescents with NF1 while considering the role of intellectual functioning. Participants were 26 adolescents with NF1 and their parents. Data from laboratory-based measures and parent ratings of executive skills in day-to-day life were integrated to elucidate the factors that contribute to academic success. Elevated rates of difficulties were observed on the laboratory-based and parent report measures of executive functioning. Findings indicate that learning difficulties are pervasive in the NF1 population, and that executive dysfunction relates to academic achievement even when intellectual functioning and age are taken into account. Interventions aimed at improving executive skills may therefore improve academic performance in children with NF1.Journal of Developmental and Physical Disabilities 08/2014; 26(4):431-450. DOI:10.1007/s10882-014-9375-3 · 0.89 Impact Factor