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Background: Vertigo is one of the most common complaints leading to admissions in pediatric neurology clinics. Diagnosis of vertigo in children is often challenging due to limited communication capacity in defining symptoms, the unreliability of neurovestibular investigations in children and the variability of etiologies. The aim of this study is to evaluate clinical and etiological profile of vertigo in childhood and to assess the diagnostic yield of neuroimaging and electroencephalography (EEG). Methods: All patients under the age of 18 years presented with vertigo to the pediatric neurology outpatient clinic of Ankara Keçiören Research and Training Hospital were included in the study. Demographic data, accompanying symptoms, family history, physical and neurological examination findings, neuroimaging, and EEG results were retrospectively analyzed. The etiological spectrum was also evaluated according to age groups. Results: A total of 791 patients (female/male=2.1) with a mean age of 13.1 years were included in the study. The most common etiologies were vestibular migraine (27.3%) and psychogenic vertigo (14.9%) in the entire cohort; whereas benign paroxysmal vertigo of childhood was the top diagnosis in children ≤12 years (25%). The most common accompanying symptom was headache (36.7%) which was most frequently associated with vertigo attacks in migrainous patients. In most cases there was no correlation between neuroimaging findings and vertigo. Additionally, the contribution of EEG to the diagnosis was found to be limited. Conclusion: Most of the childhood vertigo cases can be diagnosed accurately by a detailed medical history, physical and neurological examination. A multidisciplinary approach is essential for evaluating childhood vertigo and all the signs and symptoms accompanying vertigo should be considered while planning further investigations including neuroimaging and EEG. [ABSTRACT FROM AUTHOR]

Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide range of the clinical and genetic spectrum. Whole‐exome sequencing (WES) has been on the rise to become the usual method of choice for molecular diagnosis in patients presenting with muscular dystrophy or congenital or metabolic myopathy phenotype. Here, we used a panel with 47 genes including not only muscular dystrophy but also myopathy‐associated genes that had been used as a first‐tier approach. A total of 146 patients who were referred to our clinic with the prediagnosis of muscular dystrophy and/or myopathy were included in the study. Dystrophin gene deletion/duplication was ruled out on the patients with a preliminary diagnosis of Duchenne muscular dystrophy. In this study, the molecular etiology of 67 patients was proved with the gene panel with a diagnostic yield of 46%. Causal variants were identified in 23 genes including CAPN3(11), DYSF(9), DMD(8), SGCA(5), TTN(4), LAMA2(3), LMNA(3), SGCB(3), COL6A1(3), DES (2), CAV3(2), FKRP(2), FKTN(2), ANO5, COL6A2, CLCN1, GNE, POMGNT1, POMGNT2, POMT2, SYNE1, TCAP, and FLNC with 16 novel variants. There were 27 patients with uncertain molecular results including the ones who had a variant of uncertain significance, who had only one heterozygous variant for an autosomal recessive disease, and the ones who had two variants in different genes. Molecular diagnosis in muscular dystrophy is essential to plan clinical management and choosing treatment options. Also, the results will affect the reproduction options. Targeted next‐generation sequencing is a cost‐effective method that reduces the WES requirements with a significant diagnostic rate. [ABSTRACT FROM AUTHOR]

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Up to 15% of Duchenne's muscular dystrophy (DMD) is caused by nonsense mutations (nm-DMD). In this study, we aimed to evaluate the age at diagnosis, presentations, and diagnostic approach in 43 nm-DMD boys. The mean age at presentation and diagnosis was 3 years and 4 years, respectively. Presenting signs or symptoms were asymptomatic creatine kinase (CK) elevation (40%), muscle weakness (30%), motor delay (18%), and walking difficulties (12%). Multiplex polymerase chain reaction (PCR) of the most commonly deleted exons were negative (n = 17), and muscle biopsy was consistent with dystrophinopathy (n = 24). In all patients, multiplex ligation-dependent probe amplification (MLPA) followed by direct sequencing of all exons, revealed nm-DMD. Mean age at genetic diagnosis was 6 years 8 months. Patients were evaluated in twotime periods, between 2006 and 2011 (Group I: n = 10) and 2011 and 2017 (Group II: n = 33). The mean age at diagnosis/genetic confirmation in Group I and in Group II was 3 years 9 months/10 years, and 4 years 1 month/5 years 9 months, respectively. Most frequently performed first step diagnostic tests in Group I and Group II were muscle biopsy and MLPA. Our study reflects the change in the age at genetic diagnosis and diagnostic approach to nm-DMD depending on the advances and availability of genetic testing. [ABSTRACT FROM AUTHOR]

Juvenile dermatomyositis (JDM) is an auto-immune disease characterised by muscle weakness and typical skin findings. Although peri-orbital oedema and facial swelling are compatible cutaneous findings in JDM, they are extremely rare. A 7-year-old boy who presented with peri-orbital oedema and facial swelling without muscle weakness is reported. In addition, he had cholestasis and marked cytopenia, which are uncommon in JDM, and malignancy and metabolic disorders were primarily considered in the aetiology. He had no musculoskeletal complaints other than elevated muscle enzymes on presentation but developed muscle weakness during follow-up, and a muscle biopsy was compatible with inflammatory myopathy. He responded favourably to conventional treatment and there were no physical limitations or skin findings by the 14th month of follow-up. Although patients presenting with typical clinical features are easy to diagnose, atypical skin findings are challenging for the clinician. In the presence of atypical skin and clinical findings in addition to muscle enzyme elevation, JDM should be considered in the differential diagnosis.Abbreviations: AHCE: asymptomatic hyper-CKemia; AST: aspartate aminotransferase; C: complement; CK: creatine kinase; IVIG: intravenous immunoglobulin; IIM: idiopathic inflammatory myopathy; JDM: juvenile dermatomyositis; LDH: lactate dehydrogenase; MAA: myositis-associated antibodies; MDA5: melanoma differentiation-associated gene 5; MRC: Medical Research Council; MRI: magnetic resonance imaging; MSA: myositis-specific antibodies; MTX: methotrexate NXP2: nuclear matrix protein 2; STIR: short tau inversion recovery; US: ultrasound. [ABSTRACT FROM AUTHOR]