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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

Journal of Research in Maternal and Child Health
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
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