Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.

Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene. This retrospective study aims to evaluate the clinical manifestations and brain magnetic resonance images (MRI) analysis in 60 genetically confirmed NF1 patients. The results of next-generation sequencing (NGS), Sanger sequencing, and MLPA of NF1 gene were evaluated. A total of 54 different variants were identified. Fourteen out of them were novel variants (25.9%). Patients who complied with NIH criteria had most frequently frameshift variants (11/32 patients), and those with only CALMs had missense variants (9/28 patients). Neurofibromatosis type 1 bright objects (NBOs) on T2-weighted MRI were detected in 42 patients (42/56; 75%). These brain lesions were detected mostly in basal ganglia and in cerebellar vermis. NBOs were detected more in the patients who complied with NIH criteria (80.6%) compared to those who were only CALMs (68%). While frameshift variants (33.3%) were the most common type variants in the patients who had NBOs, the most common variants were splicing (35.7%) and missense (35.7%) variants in the patients whose MRIs were normal. Frameshift variants (11/28 patients; 39.3%) were the most common in the patients with more than one brain locus involvement. Therefore, we consider that frameshift variants may be associated with increased incidence of NBOs and involvement of more than one brain locus. In addition, NBOs may occur less frequently in the patients with splicing variants. To our knowledge, this is the first study evaluated the relationship between NF1 gene variants and NBOs. Future studies may help us understand the etiology of NBOs.

The effectiveness of tools for monitoring hemophilic arthropathy.

INTRODUCTION: Hemophilic arthropathy is the most important cause of morbidity in patients with hemophilia. The earliest alterations that occur during the development of hemophilic arthropathy can be shown using magnetic resonance imaging (MRI). In addition, various tools have been developed to monitor joint health. AIM: : The purpose of this study was to determine the correlation between these tools when used to assess hemophilia patients. METHODS: This cross-sectional study enrolled 38 hemophilia patients between 2 and 18 years of age. Hemophilia Joint Health Score (HJHS) and radiologic scores (Pettersson and Arnold-Hilgartner) were used to evaluate the joints of the patients (n=236). Magnetic resonance imaging (MRI) was performed on 46 joints that were pathologic according to the HJHS. These joints were imaged bilaterally; therefore, 14 normal joints were imaged. In addition, the Functional Independence Score in Hemophilia (FISH) was used to evaluate the joints of 33 patients. RESULTS: The HJHS scores were correlated with the MRI and FISH scores. The annual bleeding rate was not correlated with any scores; however, the number of painful joints was correlated with the MRI scores. The radiologic scores were correlated weakly with progressive score and HJHS. CONCLUSION: The agreement between the HJHS scores and the MRI scores suggests that the HJHS may be used safely as a first-line tool. We recommend that the FISH should be used in the routine follow-up of hemophilia patients as a functional evaluation tool. Painful joints may be useful in deciding to apply MRI, whereas the bleeding frequency may not be useful.

Childhood headaches and brain magnetic resonance imaging findings.

BACKGROUND: Headaches are common in children and brain magnetic resonance imaging (MRI) studies are widely used in everyday clinical practice because of increasing demands by parents. AIM: To determine headache types and to evaluate the frequency and clinical significance of brain MRI abnormalities in children with headache. METHODS: A total of 449 children (261 male and 188 female with a mean age of 11.16 ± 3.22 years) with headache were included into the study. The criteria defined by International Headache Society were used to classify the headache types. RESULTS: The causes of headache were migraine in 247 (55.0%), tension-type in 133 (29.6%), secondary in 48 (10.7%), and unspecified headaches in 21 (4.7%) patients. Overall, 324 (72.2%) patients underwent cerebral MRI, which revealed abnormalities in 68 (21.0%) patients. Two (0.6%) patients had cerebral MRI abnormalities relevant to headache, including tumor and hydrocephalus each 1 (0.3%). Twenty-nine (8.9%) patients had incidental cerebral MRI abnormalities including 14 (4.3%) white-matter hyperintensities, 4 (1.2%) old infarcts, 3 (0.9%) Chiari malformations, arachnoid cysts and demyelinating lesions each 2 (0.6%), and subdural hygroma, fibrous dysplasia, pineal cyst and perivascular widening, each 1 (0.3%). Remaining 36 (11.1%) patients had extra-cerebral MRI abnormalities including 34 (10.5%) sinus disease, and 2 (0.6%) adenoid vegetation. Indications for brain MRI were atypical headache pattern or presence of neurologic abnormalities in 59 (18.2%) patients and parents' concerns in 265 (81.8%) patients. The rates of abnormal MRI findings were similar between these 2 groups. CONCLUSIONS: The most frequent cause of headache in children is migraine. Despite the high rate of imaging abnormalities, the yield of brain MRI is not contributory to the diagnostic and therapeutic approach.