Abstracts / Journal of the Neurological Sciences 405S (2019) 116543
(CSF) analysis showed 3 cells/μL (100% lymphocytes), elevated protein (1.4 g/L, normal b0.6 g/L) and polymerase chain reaction to detect West Nile, Japanese Encephalitis, Herpes Simplex virus 1 and 2, Cytomegalovirus and Enterovirus were negative. Detection of Polio virus from stool samples were also negative. Magnetic resonance imaging showed hyperintensities on T2-weighted images over the bilateral anterior horn cells spanning C3 to C6 levels (more on the right) with contrast enhancement of the ventral roots of the sacral area. She was treated with anti-Koch’s medications and high dose corticosteroids and intravenous immunoglobulin. Recovery was protracted. This case emphasizes the importance of neuroimaging in evaluating patients presenting with acute flaccid paralysis as it can further differentiate AFM from GBS. The emergence of polio-like illnesses should raise vigilance in detection and prevention of such diseases. doi:10.1016/j.jns.2019.10.1576
WCN19-0980 Journal of the Neurological Sciences 405S (2019) 105238 Poster Session 4 The prevalence and some risk factors of primary headache disorders among the school-aged children in Ulaanbaatar, Mongolia S. Enkhtuyaa, O. Luvsannorovb a Reflex Clinic, Neurology, Ulaanbaatar, Mongolia b Mongolian National University of Medical Sciences, Neurology, Ulaanbaatar, Mongolia The aim of this study was to determine the 1-year prevalence and some risk factors of primary headache disorders in school-aged children. A cross-sectional, school-based survey consisting of semistructured questionnaires was administered to randomly select aged 6-11 years using stratified multistage cluster sampling during the period from April to June 2018. The questionnaire of primary headache was based on International Classification of Headache Disorders-III criteria. We surveyed totally 635 participants; the one-year prevalence of all types of headache was 54.6%. Prevalence of migraine and tensiontype headache was 3.0% and 5.4%, respectively. Biometric and sociodemographic factors found associated with statistically significant difference prevalence of migraine: type of household, life situation and residential quarter. However, the risk factors of TTH were age and using of screens. We concluded that this study found an average prevalence of headaches are very common in school-aged children. But prevalence of primary headache disorders was comparable with other countries.
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WCN19-0989 Journal of the Neurological Sciences 405S (2019) 105239 Poster Session 4 Exploring the molecular basis of hereditary spinocerebellar degeneration in a large Sudanese family A. Babaia, L. Elsayedb, I. Mohammedc, M. Elseedc, A. Hamedc, E. Alturabid, I. Eltazid, S. Tahae a Institute of Endemic Diseases - University of Khartoum, Molecular Medicine, Khartoum, Sudan b Faculty of Medicine- University of Khartoum, Biochemistry, Khartoum, Sudan c Faculty of Medicine- University of Khartoum, Pediatrics and Child Health, Khartoum, Sudan d University of Khartoum, Faculty of Medicine, Khartoum, Sudan e Dar Al Elaj Specialized Hospital, Radiology, Khartoum, Sudan Background Spinocerebellar neurodegeneration (SCD) is phenotypically and genetically complex forming a heterogeneous spectrum of disorders with hereditary spastic paraplegias on one end and hereditary ataxias on the other. Genetics of SCD has been a target for extensive researches worldwide, yet little is known about SCD genetics in SubSaharan African population. Methods We recruited a large consanguineous Sudanese family with five affected siblings. Extracted genomic DNA was screened for genetic variations using whole exome sequencing (WES). Analysis was done to identify the culprit variations using bioinformatics tools. Results Clinical results showed a complex phenotype of progressive spastic-ataxia, deafness and microcephaly. Analysis of WES data suggested two homozygous missense variants in two candidate genes (MYO15A and SEMA5D) that were not reported to be linked to similar disease before. The first variant in MYO15A gene (NM_016239.3: c.1634CNT) was reported to cause autosomal recessive hearing loss but was not reported in similar neurological disease. The second variant in SEMA4D gene (NM_006378.3: c.1588GNA) which involved in brain development but not reported to be associated with inherited neurological conditions before. Both variants were extremely rare and highly conserved. They were predicted to be highly pathogenic using bioinformatics tools.
Keywords: Migraine, Tension-type headache, Children and risk factors
Conclusion The scarcity of genetic data in the highly consanguineous Sudanese population makes whole exome sequencing a powerful and cost effective strategy to identify both known and new pathogenic variations and genes. Sanger sequencing and further functional studies are recommended to prove the association of MYO15A gene and SEMA4D gene with the complex clinical phenotype of deafness, spasticity and ataxia.
doi:10.1016/j.jns.2019.10.1577
doi:10.1016/j.jns.2019.10.1578