Document Type : Case Report
Authors
1
Hematology and Oncology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2
Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3
Department of Pediatrics, Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4
Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5
Minimally 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.
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