ABSTRACT
OBJECTIVES: Collagen-VI-related myopathies are caused by both dominant and recessive mutations in the three collagen-VI-related genes (COL6A1, COL6A2, and COL6A3) and present as two different major clinical entities; Bethlem myopathy and Ullrich congenital muscular dystrophy. METHODS: In this study, we evaluated the clinical, pathologic, and genetic features of 8 patients with Bethlem myopathy from 3 families. RESULTS: We inspected disease course differences with age and mutations. Different variants in COL6A1 and COL6A2 genes were detected. Muscle MRI of the lower limbs showed a specific pattern of muscle involvement with variable severity of fatty infiltration. One family had essential hypertension. CONCLUSION: Genotype-phenotype correlation studies are critical in determining gene or mutation-targeted therapies, patient follow-up, severity and progression prediction, and genetic counselling.
ABSTRACT
This study evaluates specific electroencephalogram abnormalities in pediatric migraine and tension-type headaches, and demonstrates the clinical value of these abnormalities. We studied 50 migraine patients and 50 tension-type headache patients. Their mean age ± SD was 10.62 ± 3.21 (range, 5-16) years in the migraine group, and 13.00 ± 2.37 (7-16) years in the tension-type headache group. Diagnoses were rendered according to the International Classification of Headache Disorders, 2nd Edition, First Revision, of the International Headache Society. All patients underwent two waking-state electroencephalograms, one during a headache, and the other when headache-free. Thirty-six percent (18/50) of migraine patients and 12% (6/50) of tension-type headache patients revealed specific electroencephalogram abnormalities in headache attack electroencephalograms (P < 0.05). In headache-free period electroencephalograms, 16% (8/50) of the migraine group and 2% (1/50) of the tension-type headache group revealed abnormalities (P < 0.05). Our results indicate that electroencephalogram abnormalities are particularly prevalent in migraines, especially during headache attacks. This study is the first, to the best of our knowledge, on electroencephalographic evaluation of pediatric migraine and tension-type headache patients during both headache attacks and headache-free periods.
