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标题：A Case Study Of 12 Year Male WithGenetic Cerebellar Malformations
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作者：SnehaNagrale ; Sagar Bhovare ; Aniket Pathade 等
期刊名称：International Journal of Early Childhood Special Education
电子版ISSN：1308-5581
出版年度：2022
卷号：14
期号：4
页码：2405-2409
DOI：10.9756/INTJECSE/V14I4.332
语种：English
出版社：International Journal of Early Childhood Special Education
摘要：The importance of the cerebellum in muscular coordination has long been known. But its importance in sophisticated cognitive behaviour is becoming more widely recognized. The genetic causes of cerebellar defects revealed by prenatal and postnatal neuroimagingare now commonly detected during pregnancy and are linked to high rates of morbidity and mortality in newborns and later in life. Obstetricians, perinatologists, and neonatologists must have a solid awareness of these illnesses and their causes because of the wide range of prognoses and medical problems.In order to give proper patient care, it's necessary to separate Environmental events such as infection, stroke, or premature birth that can induce genetic abnormalities. There are two types of cerebellar malformations: cerebellar and cerebellar-brainstem malformations. Main symptoms and /or important clinical findings:Patient who was 12 year old male reported with complaints of balance issues and gait difficulties, Coordination trouble, Uncoordinated movements, imbalance,speech issues (dysarthria),visual abnormalities (nystagmus), and vertigo. The main diagnosis, therapeutic intervention, and outcome:Neuroimaging, most commonly MRI, is used. If a family history suggests it, genetic testing is performed. Medications included Clonazepam(0.5 mg TID), Halcin (0.125 mg to.5 mg as needed) , Ativan (0.5 mg BD). Conclusion:Genetic abnormalities in the cerebellum range in severity from modest to severe malformations. The Dandy-Walker complex, which includes DWM, DWV, inferior vermis hypoplasia (IVH), and mega-cisterna Magna, is the most well-known group of cerebellar disorders (described below).
关键词：Cerebellum;Neuroimaging;Malformations;Brain;Neurodevelopment