MRI findings in children with migraine or tension-type headache.

PURPOSE: Migraine and tension-type headache are common primary headaches in children. There is a risk of developing secondary headache in children. The current study was aimed to evaluate magnetic resonance imaging findings (MRI) in children with migraine or tension-type headache. METHODS: The study was planned in children with migraine or tension-type headaches who have been followed up in the pediatric neurology outpatient clinic with regular office visits for at least two years and had neuroimaging in the last year. RESULTS: 280 patients (187 female patients) datas were studied. 91 (61 female patients) were followed up with the diagnosis of migraine and 189 (126 female patients) with the diagnosis of tension-type headaches. The age of patients was found to be 13.1 ± 3.4 years. Brain tumor was found in one child with tension-type headache who had papilledema. Incidental MRI findings found 7.7% and 12.7% in migraine and tension-type headache, respectively. MRI findings in the study were arachnoid cyst (14), pituitary adenoma (6), mega cisterna magna (6), pineal cyst (3), non-specific gliosis (2) and tumor (1). CONCLUSION: Arachnoid cysts were found incidental as the most common MRI finding in children with migraine or tension-type headache. The rare life-threatening secondary headache may develop in children. The fundus examination as a complement to the neurological examination can be useful for requesting MRI.

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

BACKGROUND: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. OBJECTIVE: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. METHODS: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated. RESULTS: Fifty-four patients (mean age:15.2 years (±5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (±4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. CONCLUSIONS: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.

Facial colliculus syndrome due to a Herpes simplex virus infection following Herpes labialis.

BACKGROUND: The facial colliculus is an elevated area that is formed by fibers from the motor nucleus of the 7`th cranial nerve as they loop over the abducens nucleus. Clinical signs and symptoms of facial colliculus lesions occur primarily due to injury to the abducens nerve nucleus, the facial nerve fibers around the abducens nucleus, paramedian pontine reticular formation, and the medial longitudinal fasciculus. The etiology of facial colliculus lesions varies by age. While tumors, demyelinating lesions, and viral infections can be involved in young individuals` etiology, vascular ischemia is a common causative factor in older people. CASE: In this paper, we present a case of facial colliculus syndrome due to its rare occurrence in a young patient; who developed the signs and symptoms after a herpes infection. CONCLUSION: Facial colliculus syndrome is rare and the treatment is based on etiology.

A rare case of juvenile amyotrophic lateral sclerosis.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial. CASE: Here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C > T) variation was identified in the fused in sarcoma (FUS) gene. CONCLUSION: The p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.

Circadian blood pressure rhythm in normotensive offspring of hypertensive parents.

BACKGROUND: The aim of this study was to explore the circadian blood pressure (BP) rhythm using ambulatory BP monitoring (ABPM) in normotensive children with a family history of essential hypertension. METHODS: Group 1 consisted of children with hypertensive mothers and/or fathers (n = 20), Group 2 consisted of children with hypertensive grandparents (n = 20), and Group 3 consisted of children with normotensive parents (n = 20). All participating children underwent a 24-h ABPM and echocardiography. RESULTS: Significantly higher systolic burden was found in children with hypertensive parents (p < 0.05) and grandparents (p < 0.05) compared to controls. Ambulatory BP measurements had a higher daytime systolic BP in Group 1 compared to controls (p < 0.05). While left ventricular (LV) posterior wall thickness was similar in Group 1 and Group 2, it was significantly higher in both of these groups compared to the controls. The LV mass index (LVMI) was significantly higher in Group 1 than in controls (p < 0.05). However, diastolic BP was significantly higher in dippers compared to non-dippers (p < 0.05). LV posterior wall thickness, interventricular septum thickness and LVMI were significantly higher among non-dippers compared to dippers (p < 0.05). In children with a family history of hypertension, a positive correlation between nocturnal systolic BP and LVMI was found, and increasing nocturnal BP values were associated with increasing LVMI (p < 0.01). CONCLUSIONS: In children with a family history of hypertension, target-organ damage may precede the clinical detection of hypertension, and in those with a nocturnal non-dipper status, a more marked effect on LVMI may occur.