GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case

Abstract

Background. GM2 gangliosidosis (Tay-Sachs disease, variant B, type I) is an orphan disease with autosomal recessive inheritance. It develops due to gangliosides accumulation in tissues and organs. The description of clinical case of GM2 gangliosidosis in the patient originating from the Buryat nationality has been presented for the first time. Clinical case description. Girl, 1 year 4 months old, parents — Buryats. There were the following complaints at their admission to the neurology department: lack of movement in the limbs, the child has stopped turning over, became lethargic, slowly ate supplemental feeding. Biochemical blood test has shown increased aspartate aminotransferase activity by 6 times from normal upper limit. α-galactosidase, α-glucosidase, β-D-glucosidase, sphingomyelinase, galactocerebrosidase, and α-iduronidase activities were within the reference levels. Sanger sequencing has revealed the nucleotide variant chr15:72346680G>A (GRCh38) in homozygous state in the HEXA gene. The diagnosis has been established: “GM2 gangliosidosis, type I, infantile form”. Conclusion. GM2 gangliosidosis is a rare disease, especially among Asian populations. Moreover, GM2 gangliosidosis is inherited in autosomal recessive way, thus, two children in the described family had the disease (the first child was assumed to have the disease according to the clinical signs)

Keywords

• gm2 gangliosidosis
• tay-sachs disease
• orphan diseases
• autosomal recessive inheritance