An autopsy case of infantile GM1 gangliosidosis with adrenal calcification

摘要: We describe an autopsy case of a 1-year-old male baby presenting with failure to gain milestones, floppiness, and reddish skin lesions since birth. Fundoscopic examination revealed bilateral cherry-red spots in the macula. The died respiratory numerous ballooned neurons astrocytes cytoplasmic storage material seen throughout central white matter, basal ganglia, cerebellum, choroid plexus, brain stem. There was neuronal degeneration loss myelin matter axonal as well. weakly positive PAS oil red-O stains. Ultrastructurally, multilayered lamellated bodies were within neurons. Biochemical analysis lysosomal enzymes done leucocytes β-galactosidase deficiency that is consistent GM1 gangliosidosis. Extensive visceral deposition similar also seen. Remarkably, both adrenals extensive medullary calcification, which has not been reported this disorder, best our knowledge.