A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome

Juvenile GM1-gangliosidosis, also known as type II or juvenile GM1-gangliosidosis, is an autosomal recessive lysosomal storage disorder that clinically differs from infantile GM1-gangliosidosis in the absence of the characteristic cherry-red patch and hepatosplenomegaly. The disease is characterized by mild skeletal abnormalities and slowly progressing neurodegeneration. Due to the late age of onset and unusual presentation, diagnostic confusion with other ataxic and purely neurological disorders is common. There are currently 3–4 recognized types of GM1-gangliosidosis, with type I being the most prevalent phenotype with an average onset age of 6 months. Several subtypes of GM1-gangliosidosis are caused by mutations in the GLB1 gene, but the location and type of deleterious mutations have a direct impact on the severity of the disease and the age at which it manifests. A fully immunized 8-month-old male presented to our hospital with complaints of mild feeding difficulty, periorbital edema, and fever. Facial dysmorphism, hypotonia, delayed development, and hepatomegaly were observed in the patient. As there is currently no effective treatment for GM1 gangliosidosis, the carrier of the disease receives only symptomatic and palliative care. Given that genetic counseling is now the only means of preventing the disease, early diagnosis is crucial.