Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of
gangliosides in several tissues, mainly in neurons. This condition causes a progressive neurodegenerative disorder with varied clinical presentations. Depending on the severity of the enzymatic defect, gangliosidoses show different rates of clinical progression and organ involvement; poor residual enzyme activity is seen in more aggressive forms (infantile and juvenile subtypes) leading to early death whereas cases with better residual enzyme activity have a late onset in adult life and a milder clinical course.
Autopsy findings of a 7 month-old girl with histological and ultrastructural changes consistent with gangliosidosis are presented
