GM1 gangliosidosis: a case report

ABSTRACT

GM1 gangliosidosis is a lysosomal disease characterized by the accumulation of GM1 ganglioside (glycosphingolipid) in the visceral and central nervous system (CNS), due to the deficiency of the beta-galactosidase enzyme (lysosomal hydrolase). It mainly affects the CNS and viscera and produces important skeletal abnormalities, often occurring with the presence of vacuolated lymphocytes in the peripheral blood or bone marrow sample. It has three forms of presentation, which makes its identification even more challenging due to the wide clinical spectrum. The present study aims to describe a case of GM1 gangliosidosis in a male patient, born at 38 weeks. To date, there is no effective treatment for GM1 gangliosidosis, that is, the carrier of the disease only receives symptomatic and palliative care. Therefore, early diagnosis of the disease is extremely important, as its only form of prevention, currently, is through genetic counseling.