Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study (original) (raw)
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Bezmialem Science, 2021
Objective: To compare tractional anisotropy (FA) and mean diffusivity (MD) values obtained from corpus callosum (CC), basal ganglion, thalamus, frontal and parietal white matter in NF1 patients compared to the control group and to investigate the correlation with CC volume. Methods: Thirty three cases diagnosed with NF1 and 21 healthy control groups were included in the study. CC volume was measured in both groups. Using tensor imaging (DTI), MD and FA values were calculated from CC genu and splenium, globus pallidum, caudate nucleus, putamen, thalamus, parietal and frontal white matter. Results: CC volume increased significantly in cases with NF1. There was a significant difference in MD and FA values obtained from CC genu and splenium compared to the control group. MD values obtained from frontal and parietal white matter, globus pallidum, putamen, thalamus and caudate nucleus were significantly higher than the control group. FA values decreased in caudate nucleus and putamen while FA values in globus pallidum were higher than control group. There was a negative correlation between CC volume and MD values obtained from KK splenium, putamen, thalamus and caudate nucleus Conclusion: Increased MD in areas of involvement in NF1 cases can be explained by impaired myelination and demyelination. Heterogeneity in FA values suggests that it is caused by Amaç: NF1'li olgularda korpus kallozum (KK) hacmi ile bazal ganglionlar, talamus, frontal ve parietal beyaz cevherden elde olunan fractional anisotropy (FA) ve mean diffusity (MD) değerlerinin sağlıklı kontrol grubu ile farklılık gösterip göstermediğinin araştırılmasıdır. Yöntemler: NF1 tanısı almış 33 olgu ve 21 sağlıklı kontrol grubu çalışmaya dahil edildi. Her iki grupta KK hacmi ölçüldü. Difüzyon tensör görüntüleme (DTG) ile KK genu ve splenium, globus pallidum, kaudat nükleus, putamen, talamus, parietal ve frontal beyaz cevherden MD ve FA değerleri hesaplanarak karşılaştırma yapıldı. Bulgular: NF1'li olgularda KK hacmi belirgin artmıştı. KK genu ve spleniumdan elde olunan MD ve FA değerlerinde kontrol grubuna göre anlamlı farklılık saptandı. Frontal ve parietal beyaz cevher, globus pallidum, putamen, talamus ve kaudat nukleus MD değerleri kontrol grubuna göre anlamlı yüksekti. Kaudat nükleus ve putamende FA değerleri azalırken, globus pallidum FA değerleri ise kontrol grubuna göre yüksekti. KK hacmi ile KK splenium, putamen, talamus ve kaudat nükleus MD değerleri arasında negatif korelasyon vardı. Sonuç: NF1'li olgularda tutulum alanlarında MD artışı miyelinizasyonda bozulma ve demiyelinizasyon ile açıklanabilir. FA değerlerindeki heterojenite miyelin kılıflarının parçalanması
Alterations in Brain Morphology by MRI in Adults with NF1
2019
Objective: To explore and characterize alterations in brain morphology by MRI in adults with neurofibromatosis 1 (NF1). Methods: MRI measurements of 29 intracranial structures were obtained for 389 adults with NF1 and 112 age- and sex-matched unaffected control subjects. A subset of NF1 patients (n = 70) was also assessed for clinical severity of NF1 features and neurological problems and received psychometric testing for attention deficiencies and IQ. Brain morphological measurements were compared between NF1 and control subjects, and correlation analyses were performed between principal components of the intracranial measurements and clinical and psychometric features. Results: Four of nine corpus callosum measurements were significantly greater in adults with NF1 than in sex- and age-matched controls. All seven brainstem measurements were significantly greater in adults with NF1 than in controls. No robust correlations were observed between the size of these structures and clinic...
Pediatric Radiology, 2011
Background Neurofibromatosis type 1 (NF1) is a hereditary disease with a dominant autosomal pattern. In children and adolescents, it is frequently associated with the appearance of T2-weighted hyperintensities in the brain's white matter. MRI with diffusion tensor imaging (DTI) is used to detect white matter abnormalities by measuring fractional anisotropy (FA). Objective This study employed DTI to evaluate the relationship between FA patterns and the findings of T2 sequences, with the aim of improving our understanding of anatomical changes and microstructural brain abnormalities in individuals with NF1. Materials and methods Forty-four individuals with NF1 and 20 control subjects were evaluated. The comparative analysis of FA between NF1 and control groups was based on four predetermined anatomical regions of the brain hemispheres (basal ganglia, cerebellum, pons, thalamus) and related the presence or absence of T2-weighted hyperintensities in the brain, which are called unidentified bright objects (UBOs). Results The FA values between the groups demonstrated statistically significant differences (P≤0.05) for the cerebellum and thalamus in patients with NF1, independent of the occurrence of UBOs. Conclusions Diffusion tensor MR imaging confirms the influence of UBOs in the decrease of FA values in this series of patients with NF1. Additionally, this technique allows the characterization of microstructural abnormalities even in some brain regions that appear normal in conventional MR sequences.
American Journal of Medical Genetics Part A, 2007
We here report on a Japanese family with congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with slowly progressive cerebellar ataxia. The pedigree indicated autosomal dominant inheritance. All affected individuals showed a complete loss of upgaze function with ptosis, and severe or moderate restriction of downgaze function probably from the birth. Horizontal gaze function was well preserved, except for the eldest patient, who showed both eyes almost totally fixed in exotrophic position. The primary vertical and horizontal position of each eye varied from patient to patient. Aberrant eye movements were observed on attempted upgaze. They showed amblyopia and/or astigmatism, but none of them complained of diplopia. Pupillary reactions were normal, and retinal pigmentary degeneration or optic atrophy was not observed. These ophthalmological findings were consistent with the CFEOM phenotype. The two middle-aged patients, but not the two younger patients, showed slowly progressive gait ataxia with juvenile onset. Magnetic resonance images of the brain indicated cerebellar atrophy in addition to congenital hypoplasia in the cerebellar vermis. Molecular genetic analysis provided a negative linkage to the FEOM3 locus. Linkage to the FEOM1 locus could not be excluded in our family, but mutation in KIF21A, a major cause of the CFEOM1 phenotype, was not detected. We consider that this family may broaden the spectrum of the clinical features of CFEOM or the related disorders presenting with the CFEOM phenotype. © 2007 Wiley-Liss, Inc.
Clinical and surgical data of affected members of a classic CFEOM 1 family
BMC Ophthalmology, 2003
Background: Congenital fibiosis of the extraocular muscles (CFEOM1) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOM1 family. Methods: Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in this study. Each affected family member underwent ophthalmologic (corrected visual acuity, pupillary function, anterior segment and fundus examination), orthoptic (cover test, cover-uncover test, prism alternate cover test), and preoperative examinations. Eight of the ten affected members had surgery and underwent postoperative examinations. Surgical procedures are listed. Results: All affected members were born with varying degrees of bilateral ptosis and ophthalmoplegia with both eyes fixed in a hypotropic position (classic CFEOM). The affected members clinical data prior to surgery, surgery procedures and postoperative outcomes are presented. On 14 operated eyes to correct ptosis there was an improvement in 12 eyes. In addition, the head position improved in all patients. Conclusions: Surgery is effective at improving ptosis in the majority of patients with classic CFEOM. However, the surgical approach should be individualized to each patient, as inherited CFEOM exhibits variable expressivity and the clinical features may differ markedly between affected individuals, even within the same family. Background Congenital fibrosis of the extraocular muscles (CFEOM) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive oph-thalmoplegia. An early description of CFEOM was given by Baumgarten in 1840[1] and Heuck is credited with the first report of a familial occurrence in 1879[2]. Affected individuals are born with their eyes fixed in an abnormal
Journal of neurodevelopmental disorders, 2013
Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural abnormalities in patients with NF1. Previous studies have reported contradictory findings and have focused only on volumetric measurements. Here, we investigated the volumes of subcortical structures and the composite dimensions of the cortex through analysis of cortical volume, cortical thickness, cortical surface area and gyrification.
colliot_vbm_fcd_neuroimage_2006_postprint.pdf
High-resolution MRI of the brain has made it possible to identify focal cortical dysplasia (FCD) in an increasing number of patients. There is evidence for structural abnormalities extending beyond the visually identified FCD lesion. Voxel-based morphometry (VBM) has the potential of detecting both lesions and extra-lesional abnormalities because it performs a whole brain voxel-wise comparison. However, on T1-weighted MRI, FCD lesions are characterized by a wide spectrum of signal hyperintensity that may compromise the results of the segmentation step in VBM. Our purpose was to investigate grey matter (GM) changes in individual FCD patients using voxel-based morphometry (VBM). In addition, we sought to assess the performance of this technique for FCD detection with respect to lesion intensity using an operator designed to emphasize areas of hyperintense T1 signal. We studied 27 patients with known FCD and focal epilepsy, and 39 healthy controls. We compared the GM map of each subject (controls and patients) with the average GM map of all controls and obtained a GM z-score map for each individual. The protocol being designed to achieve a maximal specificity, no differences in GM concentration were found in the control group. The z-score maps showed an increase in GM that coincided with the lesion in 21/27 (78%) patients. Five of the six remaining patients whose lesions were not detected by VBM, presented with a strong lesion hyperintensity and a significant part of their lesion was misclassified as white matter. In 16/27 (59%) patients, there were additional areas of GM increase distant from the primary lesion. Areas of GM decrease were found in 8/27 (30%) patients. In conclusion, individual voxel-based analysis was able to detect FCD in a majority of patients. Moreover, FCD was often associated with widespread GM changes extending beyond the visible lesion. In its current form, however, individual VBM may be unable to detect lesions characterized by strong signal intensity abnormalities.
Frontiers in Neurology, 2012
Background: Diffusion tensor imaging (DTI) allows the analysis of changes in microstructure, through the quantification of the spread and direction of water molecules in tissues. We used fractional anisotropy (FA) maps to compare the integrity of WM between patients and controls. The objective of the present study was to investigate WM abnormalities in patients with frontal lobe epilepsy secondary to focal cortical dysplasia (FCD). Materials and Methods: We included 31 controls (12 women, 33.1 ± 9.6 years, mean ± SD) and 22 patients (11 women, 30.4 ± 10.0 years), recruited from our outpatient clinic. They had clinical and EEG diagnosis of frontal lobe epilepsy, secondary to FCD detected on MRI. Patients and controls underwent 3T MRI, including the DTI sequence, obtained in 32 directions and b value of 1000 s/mm 2. To process the DTI we used the following softwares: MRIcroN and FSL/TBSS (tract-based spatial statistics). We used a threshold-free cluster enhancement with significance at p < 0.05, fully corrected for multiple comparisons across space. Results: Areas with FA reduction in patients were identified in both hemispheres, mainly in the frontal lobes, cingulum, and forceps minor (p = 0.014), caudate e anterior thalamic radiation (p = 0.034), superior longitudinal fasciculus (p = 0.044), uncinate fasciculus, and inferior fronto-occipital fasciculus (p = 0.042). Conclusion: Our results showed a widespread pattern of WM microstructural abnormalities extending beyond the main lesion seen on MRI (frontal lobe), which may be related to frequent seizures or to the extent of MRI-invisible portion of FCD.