Midazolam-induced acute dystonia reversed by diazepam

Midazolam can induce acute dystonia in childhood. We report the development of acute dystonia in a 6-year-old girl after receiving midazolam as a sedative. Dystonic contractions persisted despite flumazenil and biperiden lactate injections and the patient was treated with diazepam. Acute dystonia was rapidly abolished after the administration of diazepam intravenously. Diazepam may be an effective treatment option in patients who are unresponsive to flumazenil

Recurrent and atypical posterior reversible encephalopathy syndrome in a child with hypertension

Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiologic entity with typical symptoms including headache, seizures, visual disturbance, altered mental status, vomiting, nausea and focal neurologic signs. In this article, we report recurrent and atypical PRES in a child with hypertension due to end-stage renal disease (ESRD) who was on a peritoneal dialysis program for 6 months. After the second hypertension attack, PRES findings did not recover and persisted as encephalomalacia. As far as we know, this case is the first child with ESRD who developed encephalomalacia after recurrent episodes of PRES. When a patient with a history of PRES presented with new clinical and neuroradiological findings, recurrent PRES should be considered

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 Turkiye 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