[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-399895-105":59,"doc-detail-399895-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","tay-sachs-disease-a-case-report","Tay-Sachs Disease: A Case Report","","Tay-Sachs disease is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, caused by deficiency of hexosaminidase A. A twelve-month-old girl, the child of first cousins with two sibling deaths, presented with mental-motor deterioration and convulsions. Exam showed generalized hypotonia, macrocephaly, hyperacusis, and retinal cherry-red spots without organomegaly. Diagnosis was confirmed by total absence of serum hexosaminidase A activity, with classic progression and an enzyme-based 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causes Tay-Sachs disease in this report?","Question",{"text":112,"@type":113},"It results from a deficiency of hexosaminidase A, leading to impaired degradation of GM2 gangliosides and accumulation in neuronal tissues.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"Why was the diagnosis of Tay-Sachs disease confirmed?",{"text":117,"@type":113},"The diagnosis was confirmed by the absence of serum hexosaminidase A activity using an enzyme-based test.",{"name":119,"@type":110,"acceptedAnswer":120},"What were the key clinical signs observed in the patient?",{"text":121,"@type":113},"The patient showed mental-motor deterioration, convulsions, generalized hypotonia, macrocephaly, hyperacusis, and retinal cherry-red spot appearance, with no organomegaly.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},399895,1790716450,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":39,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":29,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},962090883568,"https://ap-avatar.wpscdn.com/davatar_a8503ba1806abce46bf441b54a3ca4cd","# TAY-SACHS DISEASE:A CASE REPORT*\n\nA.Engin Arisoy MD\",Serap Özden MD\",Gönenc Ciliv MD…imran Özalp MD**  \nSUMMARY:Arisoy AE,Ozden s,Ciliv G,Ozalp I (Department of Pedlatrlcs,inonūUniversity Faculty of Medicine,Malatya;Department of Ophthalmology,Firat UniversityFaculty of Medicine,Elazig;Departments of Blochemistry and Pedlatrics,HacettepeUniversity Faculty of Medicine,Ankara,Turkey).Tay-Sachs disease:a case report.Turk J Pedlatr 1995;37:51-56.  \nTay-Sachs disease(Ggangliosldosis I)is an autosomal recessive lysosomalstoragedisorder confined to tho central nervous system,resulting from deficlency ofhexosaminidase A.  \nThe case presented Is of a twelve-month-old girl brought to the hospital because ofmental-motor deterioration and convulslons.She was the child of first cousins andhad a history of the deaths of two siblings with the same manifestations.Generalizedhypotonla,macrocephaly,hyperacusis and a retinal cherry red spot appearance werepresent.There was no organomegaly.The diagnosis of Tay-Sachs disease was madeby means of absence of serum hexosaminidase A activity.Key words:Tay-Sachsdisease,hexosaminidase A.  \nTay-Sachs disease(GM₂gangliosidosis I)is an autosomal recessive lysosomal-storage disorder that results from a deficiency or defect of the α subunit ofhexosaminidase A,which blocks the formation of intact hexosaminidase A¹.Inthe absence of enzyme activity,GM₂gangliosides cannot be hydrolyzed andtherefore accumulate primarily in neuronal tissues.This results in progressiveneurologic degeneration.The severity of the disease appears to correlate withthe degree of enzyme deficiency².The disease is argely confined to childrenof Jewish ancestry with Eastern European origin(Ashkenazi)and only rarelyhas appeared in other Caucasians³.At four to six months of age,loss of interestin his or her surroundings,exaggerated startle response to noise(hyperacusis),and progressive psychomotor deterioration are the characteristic clinical findingsin a previously well infant1.3.With time,hypotonia,loss of previously acquireddevelopmental skills,and then macrocephaly,seizures,hyperreflexia and  \nspasticity develop.Nearly all cases have a macular cherry-red spotappearance1,3.4.Patients with Tay-Sachs disease usually die before the age offour¹.  \nThe present patient exhibited the classic findings and course of the disease,and is the first in our region in whom the diagnosis has been confirmed by anenzyme-based test.  \n# Case Report\n\nA twelve-month-old female infant was admitted to Firat University Hospital withsymptoms of generalized and myoclonic convulsions that first presented onemonth prior to admission.She was the fourth child of healthy parents who werefirst cousins.The gestation,labor and delivery history was unremarkable.Shehad been irritable since birth.She had showed head control at two months andsat with support at five months of age.However,the parents reported that shehad been unduly sensitive to sounds and startled by unexpected noises sincefour months of age.After five months of age,developmental regression andmotor weakness had become evident.At the age of eight months she hadbecome unable to hold her head and sit.She had convulsions for the last month.There was a family history of two siblings dying at the age of two and threeyears;they had apparently showed similar symptomatology and course,but nodiagnosis had been established.  \nPhysical examination revealed a head circumference of 47.5 cm(over 97ihpercentile),a height of 76 cm(between 75ᵗ-90th percentiles)and a weight of  \n11,500 g(between 90ih-97h percentiles).The patient had no interest in hersurroundings(Figs.1,2).She had a doll-like facial appearance and hyperacusis.  \nFig.1:The doll-like facial appearance in a twelve-month-old patient with Tay-Sachs disease.  \nFig.2:A twelve-month-old girl with Tay-Sachs disease exhibiting loss of interest in her surroundings.  \nThere was no hepatosplenomegaly.Generalized motor weakness and hypotonia,hyperreflexia and bilateral clonu","cbCaicvcQlr8uxdd","https://ap.wps.com/l/cbCaicvcQlr8uxdd","pdf",480494,"English","# Summary\n# Case Report\n# Discussion","[{\"question\":\"What causes Tay-Sachs disease in this report?\",\"answer\":\"It results from a deficiency of hexosaminidase A, leading to impaired degradation of GM2 gangliosides and accumulation in neuronal tissues.\"},{\"question\":\"Why was the diagnosis of Tay-Sachs disease confirmed?\",\"answer\":\"The diagnosis was confirmed by the absence of serum hexosaminidase A activity using an enzyme-based test.\"},{\"question\":\"What were the key clinical signs observed in the patient?\",\"answer\":\"The patient showed mental-motor deterioration, convulsions, generalized hypotonia, macrocephaly, hyperacusis, and retinal cherry-red spot appearance, with no organomegaly.\"}]","Tay-Sachs Disease: A Case Report | PDF",1790504864,15]