General description

GM1-gangliosidosis is an autosomal recessive disorder caused by a deficiency of β-Galactosidase. This enzyme deficiency affects the nervous system and internal organs in GM1-gangliosidosis, whereas it affects skeletal muscles in Morquio disease. In GM1-gangliosidosis, gangliosides accumulate in various tissues such as the brain, liver, spleen, and kidneys due to the lack of β-Galactosidase.

GM1-gangliosidosis is classified into infantile, juvenile, and adult forms. The infantile form appears around 3 to 6 months of age, with symptoms such as developmental delay, hypotonia, generalized seizures, cherry-red spots in the retina, hepatosplenomegaly, and systemic skeletal abnormalities. The juvenile form develops around 1 year of age, presenting similar but milder symptoms compared to the infantile form, with hepatosplenomegaly, cherry-red spots, and skeletal abnormalities being rare. The adult form presents with normal initial development and mild intellectual impairment but starts with gait disturbances and speech difficulties before age 10. Almost all adult cases involve dystonia, particularly in the facial muscles, which is an important diagnostic feature.

Radiographic features

T2WI and FLAIR show bilateral hyperintensity of the striatum, often accompanied by striatal atrophy.