گانگلیوزیدوزیس GM2(تاس ساکس و ساندهوف) تشخیص و نمای تصویر برداری، بررسی موارد در ایران

کریم زاده, پروانه and جعفری, نرجس and نژاد بیگلری, حبیبه and جبه داری, ساینا and احمدآبادی, فرزاد (1393) گانگلیوزیدوزیس GM2(تاس ساکس و ساندهوف) تشخیص و نمای تصویر برداری، بررسی موارد در ایران. Iranian journal of child neurology ــ 8 (3). pp. 55-60. شاپا 1735-4668

Text - Published Version

Official URL: http://journals.sbmu.ac.ir/index.php/ijcn/article/...


GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series)

English Abstract

OBJECTIVE: GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. MATERIALS & METHODS: Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from October 2009 to February 2014were included in our study. The disorder was confirmed by neurometabolic and enzyme level detection of hexosaminidases A, B, and AB in reference to Wagnester Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 9 patients with Sandhoff disease and 9 with Tay Sachs disease. RESULTS: 83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. 38%of patients had a history of developmental delay or regression and 22% had seizures. The patients with Sandhoff and Tay Sachs disease were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory seizures, pneumonia aspiration, or swallowing disorders. Neuro-imaging findings included bilateral thalamic involvement, brain atrophy, and hypo myelination in near half of our patients (48%). CONCLUSION: According to the results of this study, we suggest that cherry-red spots, hyperacusis, refractory seizures, and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :پروانه کریم زاده
نویسنده :نرجس جعفری
نویسنده :حبیبه نژاد بیگلری
نویسنده :ساینا جبه داری
نویسنده مسئول :فرزاد احمدآبادی
Additional Information:Indexed in: PubMed/Pubmed Central , EMBASE , Scopus , ISC(Islamic World Science Citation Center) , CABI(Bibliographic database) , IMEMR (Index Medicus for Eastern Mediterranean Region) , Index Copernicus , EBSCO (CINAHL) , Proquest (CSA: In Neuroscience Database) , DOAJ Google scholar , SID(Scientific Information Database) , Iranmedex , Magiran ,
کلیدواژه ها (انگلیسی):Genetic disorders; Neurometabolic disorders; Sandhoff disease; Tay Sachs disease
Subjects:WD Nutrition Disease and metabolic diseases
WL Nervous system
WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:6103
Deposited By: Dr Farzad Ahmadabadi
Deposited On:13 Sep 1393 09:18
Last Modified:01 Feb 1394 03:40

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