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.
References
Brunetti-Pierri N, Scaglia F (2008) GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 94:391–6
Di Rocco M, Rossi A, Parenti G et al (2005) Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. Neuropediatrics 36:265–269
Folkerth RD, Alroy J, Bhan I, Kaye EM (2000) Infantile G(M1) gangliosidosis: complete morphology and histochemistry of two autopsy cases, with particular reference to delayed central nervous system myelination. Pediatr Dev Pathol 3:73–86
Hachiya Y, Hayashi M (2009) An 11-year-old boy showing rapid psychomotor regression and diffuse cerebral white matter lesions. Neuropathol 29:517–9
Kobayashi O, Takashima S (1994) Thalamic hyperdensity on CT in infantile GM1-gangliosidosis. Brain Dev 16:472–4
Marshall WC, Ockenden BG, Fosbrooke AS, Cumings JN (1969) Wolman's Disease: A Rare Lipidosis with Adrenal Calcification. Arch Dis Child 44:331
Suzuki K (1991) Neuropathology of late onset gangliosidosis. A review. Dev Neurosci 13:205–10
Suzuki K, Suzuki K, Chen GC (1968) Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis). J Neuropathol Exp Neurol 27:15–28
Conflict of interest
We the authors hereby state that we have no conflict of interest
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Nada, R., Gupta, K., Lal, S.B. et al. An autopsy case of infantile GM1 gangliosidosis with adrenal calcification. Metab Brain Dis 26, 307–310 (2011). https://doi.org/10.1007/s11011-011-9258-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11011-011-9258-6