No abstract

Background. Dystonia is a common hyperkinetic movement disorder in children; however, making an early and definitive diagnosis of dystonia can sometimes be challenging for clinicians.Case. Herein, we report a case of a 16 years-old girl presenting with laryngeal dystonia due to compound heterozygosity of a known pathogenic and a novel variant in the ATM gene. Serum alpha-fetoprotein level was elevated. Serum IgG, IgA, IgM and IgE levels were within normal range. Treatment with L-DOPA had no benefit. Her symptoms were dramatically improved by localized botulinum toxin injections. Conclusion.Mutations in the ATM gene show a wide phenotypic spectrum from severe classical early-onset ataxia-telangiectasia (A-T) to late-onset milder variant A-T. Our findings highlight the importance of recognizing laryngeal dystonia as one of the clinical signs of A-T.

Children with chronic neurological diseases,including cerebral palsy(CP)are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease.This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey,wherein outpatients children with CP were included in the study.Data on patient and CP characteristics,concomitant disorders as well as vaccination status included in the National Immunization Program(NIP),administration and recommendation of in uenza vaccine were collected at a single visit.A total of 1194 patients were enrolled.Regarding immunization records,the most frequently administrated and schedule completed vaccines were BCG(90.8%),hepatitis B(88.9%)and oral poliovirus vaccine (88.5%).MMR was administered to 77.3% and DTaP-IPV-HiB was administered to 60.5% of patients.For the pneumococcal vaccines,54.1% of children had received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age.The in uenza vaccine, was administered only to 3.4% of the patients at any time and had never been recommended to 1122 parents(93.9%).In the patients with severe(grade 4 and 5)motor dysfunction,the frequency of incomplete/none vaccination of hepatitis B,BCG, DTaP-IPV-HiB,OPV,MMR were statistically more common than mild to moderate(grade 1-3)motor dysfunction(p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively).In uenza vaccine recommendation by physicians was higher in the severe motor dysfunction group and the difference was statistically signi cant(p = 0.029).Children with CP had lower immunization rates and incomplete immunization programs.Clinicians must ensure children with CP receive the same preventative health measures as healthy children,including vaccines.

Hereditary spastic paraplegia (HSP) is group of a rare neurodegenerative disorder with both genetically and clinically diverse neurologic features. Indeed, disease progression is varying greatly within the different forms and current treatment modalities are exclusively symptomatic for HSP. Tremor in HSP patients is only mentioned with rare case reports, so treatment option is lack in clinical ground. We reported a case of a HSP-15 girl with a previously reported novel mutation of SPG15 complained of a life disturbing tremor and topiramate as a drug therapy for tremor in our HSP patient.