gm2-gangliosidosis (sandhoff and tay sachs disease): diagnosis and neuroimaging findings (an iranian pediatric case series)

نویسندگان

parvaneh karimzadeh 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran

narjes jafari 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran

habibeh nejad biglari 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran

sayena jabbeh dari 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran

چکیده

how to cite this article: karimzadeh p, jafari n, nejad biglari h, jabbeh dari s, ahmad abadi f, alaee mr, nemati h, saket s, tonekaboni sh, taghdiri mm, ghofrani m. gm2-gangliosidosis (sandhoff and tay sachs disease): diagnosis and neuroimaging findings (an iranian pediatric case series) iran j child neurol. 2014 summer;8(3): 55-60.   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.   references yun ym, lee sn. a case refort of sandhoff disease. korean journal of ophthalmology: kjo. 2005;19(1):68-72. epub 2005/06/03. o’dowd bf, klavins mh, willard hf, gravel r, lowden ja, mahuran dj. molecular heterogeneity in the infantile and juvenile forms of sandhoff disease (o-variant gm2 gangliosidosis). the journal of biological chemistry. 1986;261(27):12680-5. epub 1986/09/25. der kaloustian vm, khoury mj, hallal r, idriss zh, deeb me, wakid nw, et al. sandhoff disease: a prevalent form of infantile gm2 gangliosidosis in lebanon. american journal of human genetics. 1981;33(1):85-9. epub 1981/01/01. cashman nr, antel jp, hancock lw, dawson g, horwitz al, johnson wg, et al. n-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study. annals of neurology. 1986;19(6):568-72. epub 1986/06/01. oonk jgw, van der helm hj, martin jj. spinocerebellar degeneration: hexosaminidase a and b deficiency in two adult sisters. neurology 1979;29:380–384. federico a, ciacci g, d’amore i, pallini r, palmeri s, rossi a, et al. gm2 gangliosidosis with hexosaminidase a and b defect: report of a family with motor neuron disease-like phenotype. in: addison gm, harkness ra, isherwood dm, pollitt rj, editors. practical developments in inherited metabolic disease: dna analysis, phenylketonuria and screening for congenital adrenal hyperplasia: springer netherlands; 1986. p. 307-10. gomez-lira m, sangalli a, mottes m, perusi c, pignatti pf, rizzuto n, et al. a common beta hexosaminidase gene mutation in adult sandhoff disease patients. human genetics. 1995;96(4):417-22. epub 1995/10/01. barbeau a, plasse l, cloutier t, paris s, roy m. lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase a and b deficiency (adult sandhoff disease) in french canadians. the canadian journal of neurological sciences le journal canadien des sciences neurologiques. 1984;11(4 suppl):601-6. epub 1984/11/01. haghighi a, masri a, kornreich r, desnick rj. tay- sachs disease in an arab family due to c.78g>a hexa nonsense mutation encoding a p.w26x early truncation enzyme peptide. molecular genetics and metabolism. 2011;104(4):700-2. epub 2011/10/05. tay sk, low ps, ong ht, loke ky. sandhoff disease- a case report of 3 siblings and a review of potential therapies. annals of the academy of medicine, singapore. 2000;29(4):514-7. epub 2000/11/01. ghosh m, hunter ws, wedge c. corneal changes in tay-sachs disease. canadian journal of ophthalmology journal canadien d’ophtalmologie. 1990;25(4):190-2.epub 1990/06/01. hittmair k, wimberger d, bernert g, mallek r, schindler eg. mri in a case of sandhoff’s disease. neuroradiology. 1996;38 suppl 1:s178-80. epub 1996/05/01. koelfen w, freund m, jaschke w, koenig s, schultze c. gm-2 gangliosidosis (sandhoff’s disease): two year follow-up by mri. neuroradiology. 1994;36(2):152-4.epub 1994/01/01. kokot w, raczynska k, krajka-lauer j, iwaszkiewicz- bilikiewicz b, wierzba j. [sandhoff’s and tay-sachs disease--based on our own cases]. klinika oczna. 2004;106(3 suppl):534-6. epub 2005/01/08. choroba sandhoffa oraz tay sachsa--w oparciu o przypadki  wlasne. barness la, henry k, kling p, laxova r, kaback m, gilbert-barness e. a 7-year old white-male boy with progressive neurological deterioration. american journal of medical genetics. 1991;40(3):271-9. epub 1991/09/01. arisoy ae, ozden s, ciliv g, ozalp i. tay-sachs disease: a case report. the turkish journal of pediatrics. 1995;37(1):51-6. epub 1995/01/01. ozkara ha, topcu m, renda y. sandhoff disease in the turkish population. brain & development. 1997;19(7):469-72. epub 1997/12/31.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

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

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...

متن کامل

Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.

Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2 ganglioside by beta-hexosaminidase A (Hex A) due to mutations of the alpha subunit (Tay-Sachs disease) or beta subunit (Sandhoff disease) of Hex A. Hex B (beta beta homodimer) is also defective in Sandhoff disease. We previously developed mouse models of both disease...

متن کامل

Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease

To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified hexosaminidase (Hex) B exhibiting Hex A-like activity was examined. Then, the lyso-GM2 concentrations in human plasma samples were determined. The lyso-...

متن کامل

methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an iranian pediatric case series)

how to cite this article: karimzadeh p, jafari n, jabbehdari s, taghdiri mm, nemati h, saket s, alaee mr, ghofrani m, tonakebni sh. methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an iranian pediatric case series). iran j child neurol. 2013 summer; 7(3): 63-66.   objective methylmalonic acidemia is one of the inborn errors of metabolism resulting in ...

متن کامل

Methylmalonic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series)

OBJECTIVE Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia. MATERIALS & METHODS The patients who were diagnosed as methylmalonic acidemia in the Neurology De...

متن کامل

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis

The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis). Gray matter of patients with each disease showed a characteristic abnormal ceramide hexoside pattern. In Tay-Sachs gray matter, ceramide trihexoside is the major component, whereas ceramide tetrahexoside is b...

متن کامل

منابع من

با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید


عنوان ژورنال:
iranian journal of child neurology

جلد ۸، شماره ۳، صفحات ۵۵-۶۰

میزبانی شده توسط پلتفرم ابری doprax.com

copyright © 2015-2023