Statistics

Number of Journals8
Number of Issues47
Number of Articles342
Article View77,834
PDF Download49,626
Ordooei, M., Fallah, R., Abdi, F., Soheilipour, F. (2020). Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient. Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(1), 44-47. doi: 10.18502/wjpn.v3i1.5066
Mahtab Ordooei; Razieh Fallah; Fatemeh Abdi; Fahimeh Soheilipour. "Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient". Shahid Sadoughi University of Medical Sciences- Journal Management System, 3, 1, 2020, 44-47. doi: 10.18502/wjpn.v3i1.5066
Ordooei, M., Fallah, R., Abdi, F., Soheilipour, F. (2020). 'Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient', Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(1), pp. 44-47. doi: 10.18502/wjpn.v3i1.5066
Ordooei, M., Fallah, R., Abdi, F., Soheilipour, F. Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2020; 3(1): 44-47. doi: 10.18502/wjpn.v3i1.5066

Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient

World Journal of Peri and Neonatology
Article 8, Volume 3, Issue 1, March 2020, Pages 44-47    PDF (379.58 K)
Document Type: Case Report
DOI: 10.18502/wjpn.v3i1.5066
Authors
Mahtab Ordooei1, 2; Razieh Fallah3; Fatemeh Abdi* 4; Fahimeh Soheilipour5
1Hematology and Oncology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Department of Pediatrics, Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5Minimally Invasive Surgery Research Center, Iran University of Medical Sciences, Tehran, Iran
Abstract
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease due to a lack of β-galactosidase activity, exactly because of mutations in the GLB1 gene. GM1 gangliosidosis is a rare disease that could occur either during infancy (infantile type 1), as a juvenile (type 2), or in adulthood (type 3) in both nervous and skeletal systems. Type 1 is characterized by premature psychomotor deterioration, visceromegaly, macular cherry-red spot, skeletal deformities, and death in the first 2 years of life.
Case Presentation: We reported an Iranian infant who, on initial check-up, had coarse face, visceromegaly, dystonia, and hepatosplenomegaly that increased at 15 months of age. At the initial check-up, a genetic test was performed and GM1 gangliosidosis type 1 was diagnosed.
Conclusion: infant form is characterized by early-onset before the age of 6 months and rapidly progressive psychomotor deterioration, facial abnormalities, and visceromegaly.
Keywords
GM1 Gangliosidosis; Dystonia; Infantile GM1; Coarse Face; Visceromegaly
References
  1. Rita Fischetto R, Palladino V, Mancardi MM, Giacomini T, Palladino S, Gaeta A, et al. Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience. Mol Genet Genomic Med 2020; 8(10): e1371.
  2. Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, et al. The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression. Metab Brain Dis 2017; 32(5): 1529-36.
  3. Przybilla MJ, Ou L, Tăbăran AF, Jiang X, Sidhu R, Kell PJ, et al. Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B. Mol Genet Metab 2019; 126(2): 139-50.
  4. Kara DO, Şahpaz A. Pathological findings of central nervous system, two GM1 gangliosidosis autopsy cases. Turk J Pediatr 2019; 61(6): 953-7.
  5. Miceli F, Soldovieri MV, Joshi N, Weckhuysen S, Cooper E. KCNQ2 -Related Disorders Summary Genetic counseling Gene Review Scope. Seattle WA: University of Washington 2020; p. 1-25.
  6. Muthane U, Chickabasaviah Y, Kaneski C, Shankar SK, Narayanappa G, Christopher R,
    et al. Clinical features of adult GM1 gangliosidosis: Report of three Indian patients and review of 40 cases. Mov Disord 2004; 19(11): 1334-41.
  7. Draïss G, Fouad A, Rada N, Hocar O, Fdil N, Bouskraoui M. Infantile GM1-gangliosidosis    revealed by slate-grey mongolian spots. Open PediatrMed J 2019; 9(1): 1-4.
  8. Feng Y, Huang Y, Zhao X, Sheng H, Feng Y, Zhang W, et al. Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. Metab Brain Dis 2018; 33(6): 2051-7.
  9. Brunetti-Pierri N, Scaglia F. GM 1 gangliosidosis : Review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 2008; 94(4): 391-6.
Statistics
Article View: 142
PDF Download: 83


Journal Management System. Powered by Sinaweb