An autopsy case of infantile GM1 gangliosidosis with adrenal calcification

Abstract

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 baby died of respiratory failure and autopsy revealed numerous ballooned neurons and astrocytes with cytoplasmic storage material seen throughout central white matter, basal ganglia, cerebellum, choroid plexus, and brain stem. There was neuronal degeneration with loss of myelin in central white matter with axonal degeneration as well. The storage material was weakly positive with PAS and oil red-O stains. Ultrastructurally, multilayered lamellated bodies were seen within the ballooned neurons. Biochemical analysis of lysosomal enzymes done in leucocytes revealed β-galactosidase deficiency that is consistent with GM1 gangliosidosis. Extensive visceral deposition of similar material was also seen. Remarkably, both adrenals revealed extensive medullary calcification, which has not been reported in this lysosomal storage disorder, to the best of our knowledge.