Pediatric vestibular migraine: Diagnosis according to ICHD-3 criteria and the effectiveness of short-term CH prophylaxis.

OBJECTIVE: Vestibular migraine (VM) is a rare migraine variant with limited information about its treatment in children. This study, it was aimed to evaluate the diagnostic characteristics of VM in children and the effectiveness of cyproheptadine hydrochloride (CH) prophylaxis. METHODS: Patients aged 6-18 years who were diagnosed with VM and other primary headaches (OPHs) according to ICHD-3 diagnostic criteria and given oral CH prophylaxis for at least 3 months were included in the study. Response to CH prophylaxis was defined by the change in symptoms (worsening, no change, and improvement) monthly. RESULTS: A total of 64 cases diagnosed with primary headache and given CH prophylaxis were identified. 40.6% (29) migraine without aura of patients, 34.4% (22) VM, 14.1% (9) tension type headache, 4.7% (3) benign paroxysmal vertigo, 3.1% (2) migraine with aura and 3.1% (2) were diagnosed with abdominal migraine. Compared to OPHs, it was found that the duration of headache attack was shorter (p .013) and vomiting, which is one of the associated symptoms, was observed less in pediatric VM (p .032). The positive response of the whole study population to CH prophylaxis was 85.9%. However, CH prophylaxis responses were higher in VM compared to OPHs at the end of 1 month (63.6%) and 2 months (86.3%). CONCLUSION: In the pediatric population, the migrainous characters of VM may show differences, but its response to short-term CH prophylaxis is quite good.

Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases.

INTRODUCTION: We evaluated the contribution of array comparative genomic hybridization (aCGH) to the final diagnosis in children with neurocognitive disturbances or dysmorphic findings, but lacked a specific diagnosis. MATERIALS AND METHODS: Medical files of pediatric patients with neurocognitive disturbances who underwent aCGH analysis were reviewed retrospectively. RESULTS: Of 155 patients, 77 copy number variations were detected and 50% (39/77) were considered causative. The aCGH's final diagnostic rate was 25.1% (39/155). CONCLUSION: With aCGH analysis, the diagnosis rate for patients with undiagnosed neurocognitive disturbances or dysmorphic syndrome may increase by 25-30%. If the phenotypic findings of the widely known neurocognitive disturbances cannot be identified during the initial clinical assessment, aCGH analysis may be beneficial.

A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype.

NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.

A rare presentation of Susac syndrome: Report of three pediatric cases.

Susac syndrome is a rare disorder that is clinically characterized by encephalopathy, retinopathy and hearing loss. Most of the reported cases in the literature are adult patients, pediatric presentation is extremely rare. Here we present three pediatric patients aged between 10-15; diagnosed as Susac syndrome. They all had thalamic involvement in addition to typical callosal lesions. All of the three patients had a monophasic course and good treatment response.

Serum brain-derived neurotrophic factor in the diagnosis of febrile seizure.

BACKGROUND: Brain-derived neurotrophic factor (BDNF) is a noncovalently linked homodimer protein from the neurotrophic growth factor family. Although it is expressed throughout the brain, it is produced more intensively in the entorhinal cortex and hippocampus and can cross the blood-brain barrier in two directions easily. The aim of this study is to understand, for the first time, whether there is a relationship between febrile seizure (FS) and BDNF. METHODS: The study included cases diagnosed with FS and febrile illness, of similar age, weight, and height, between 6 months and 6 years. Samples for serum BDNF measurement were taken within the first 24-48 h of admission at the hospital and levels were measured using the commercial enzyme-linked immunosorbent assay kit and expressed in ng/mL. RESULTS: Eighty cases (40 FS, 40 febrile illness) were included in the study. The mean serum BDNF was found to be 6.7 ± 2.4 ng/mL in the FS group and 4.5 ± 2.6 ng/mL in the febrile illness group (P = 0.001). No relation was found between gender, age, body weight, length, and platelet counts and serum BDNF levels. The optimal cut-off value for serum BDNF was found to be 5.2 ng/mL (75% sensitivity, 62.5% specificity, AUC: 0.723) to distinguish between FS and febrile illness. CONCLUSIONS: Excluding demographic variables such as gender, age, weight, length, and platelet counts serum BDNF levels have increased in children with FS. Considering the hippocampal origin of FS, we can suggest that the pathophysiology of FS may be related to the BDNF.

Evaluation of the diagnostic value of clinical characteristics and situations associated with primary headache in children: International classification of headache Disorders-3 edition.

OBJECTIVE: In the childhood period, diagnosis of primary headache is based on anamnesis essentially. This study investigated the effects of characteristics of headache (type of pain, localization and attack time), family migraine history and total duration from onset of headache to clinical diagnosis on primary headache diagnosis. PATIENTS AND METHODS: Headache history was taken from children aged 6-18 years with a suitable form of International Classification of Headache Disorders, 3rd edition. Children's demographic findings were recorded. Headache characteristics (type of pain, localization and attack time), whether there is family migraine history and total duration from onset of headache to clinical diagnosis were recorded and sensitivity and specificity were calculated. The effects of pulsatile pain, forehead localization, attack time ≥2 h, family history of migraine and total time from onset of headache to clinical diagnosis on final diagnosis of primary headache (migraine without aura or others) were also assessed with regression analysis. RESULTS: Of a total of 277 patients, 52 % were diagnosed with migraine without aura. Regression analysis revealed that family history of migraine was the most determinant factor for migraine without aura diagnosis (OR 2.922, 95 %CI 1.622-5.264). This was followed by the pursuing risk coefficients for migraine without aura diagnosis in order of forehead localization (OR 2.751, 95 %CI 1.537-4.923), attack time of ≥2 h (OR 2.615, 95 %CI 1.406-4.864), nausea (OR 2.163, 95 %CI 1.192-3.924), pulsatile pain (OR 2.102, 95 %CI 1.185-3.729) and total duration (OR 1.973, 95 %CI 1.105-3.521). CONCLUSION: Family history of migraine and total duration of longer than 6 months from onset of headache to clinical diagnosis may be additional markers for migraine without aura diagnosis. Due to difficulties experienced in diagnosis of primary headache based on anamnesis in the childhood period, there is a need for additional diagnostic markers.

Bronchopulmonary dysplasia frequency and risk factors in very low birth weight infants: A 3-year retrospective study.

OBJECTIVE: In this study, the relationship between the frequency of bronchopulmonary dysplasia, perinatal risk factors and other prematurity comorbidities were evaluated in very low birth weight infants. METHODS: A total of 872 very low birth weight infants' files were retrospectively reviewed. The effects of the clinical parameters, such as type of birth, small for gestational age, gender, antenatal steroids, early membrane rupture, chorioamnionitis, surfactant administration, respiratory distress syndrome, patent ductus arteriosus, apnea, early and late sepsis on the frequency of bronchopulmonary dysplasia, were evaluated by binary logistic regression analysis. RESULTS: The overall mortality rate was 20.9%. After the first 28-day mortality reduction, the total bronchopulmonary dysplasia frequency was found to be 20.1%. The odds ratio and 95% confidence intervals of the factors affecting the development of bronchopulmonary dysplasia were found to be as follows respectively: respiratory distress syndrome (OR 6.2, 95% CI 3.6-10.6, p<0.01), patent ductus arteriosus (OR 4.9, 95% Cl 2.4-9.9, p<0.01), apnea (OR 4.1, 95% CI 2.5-6.9, p<0.01), late sepsis (OR 2.7, 95% CI 1.6-4.5, p<0.01), early membrane rupture (OR 2.6, 95% Cl 1.2-5.5, p=0.01), and male gender (OR 1.6, 95% CI 1.0-2.7, p=0.04) was found. However, there was no effect of chorioamnionitis, antenatal steroids, small for gestational age, early sepsis and type of birth on bronchopulmonary dysplasia. CONCLUSION: Differently from the usual factors which are low birth weight and a gestational week, there was a significant but non-linear risk relationship between respiratory distress syndrome, patent ductus arteriosus, late sepsis, apnea, early membrane rupture, male gender and bronchopulmonary dysplasia.

Iron supplementation should be given in breath-holding spells regardless of anemia

Background/aim: The purpose of this retrospective study was to determine the effectiveness of oral iron therapy in breath-holding spells and evaluation of electrocardiographical changes Materials and methods: Three hundred twelve children aged 1­48 months and diagnosed with breath-holding spells between January 2017 and April 2018 were included. Patients' laboratory findings were compared with 100 patients who had one simple febrile seizure. Results: Cyanotic breath-holding spells were diagnosed in 85.3% (n = 266) of patients, pallid spells in 5.1% (n = 16), and mixed-type spells in 9.6% (n = 30). Sleep electroencephalograms were applied for all patients, 98.2% (n = 306) of which were normal, while slow background rhythm was determined in 1.2% (n = 4). Epileptic activity was observed in only 2 patients (0.6%). The mean hemoglobin (Hb) value in the breath-holding spell group was 10.1 mg/dL. Patients' mean corpuscular volume (MCV) was 73 fL. Patients' Hb and MCV values were statistically significantly lower than those of the control group (P < 0.001). The difference between spell burden was not statistically significant (P = 0.691). Spell burden decreased equally in both groups. Conclusion: Oral iron therapy can be administered in breath-holding seizures irrespective of whether or not the patient is anemic.