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GM2-Gangliosidosis, AB variant

Clinico-pathological study of a case

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Abstract

Clinical and neuropathological studies of a case of AB variant GM2-gangliosidosis have been presented. The patient was a 14 months old black female infant who had “black cherry spot” in the retinas. The total activities of β-galactosidase and N-acetyl-β-hexosaminidase, as well as the proportion of hexosaminidase A and B components in her serum and leukocytes were normal when the assays were carried out with artificial fluorogenic substrate. Diagnosis of GM2-gangliosidosis AB variant was established by an abnormal increase of GM2-ganglioside in the biopsied brain tissue, similar to classical Tay-Sachs disease.

Her clinical manifestation appeared to be similar but somewhat milder than those of classical Tay-Sachs disease. Light microscopic features of the cerebral biopsy were also closely similar to Tay-Sachs disease and Sandhoff disease but gliosis and neuronal loss were less pronounced. Electron microscopic study revealed numerous membranous cytoplasmic bodies (MCB) and zebra bodies in neurons. In addition, varieties of large intracytoplasmic inclusions in astrocytes, a feature distinctly different from classical Tay-Sachs disease, were observed. Numerous cytoplasmic inclusions were also present in oligodendroglia, pericytes and microglial cells.

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Authors and Affiliations

  1. Department of Pathology (Neuropathology), the Saul R. Korey Department of Neurology, Department of Neuroscience, Albert Einstein College of Medicine and St. Luke's Hospital, 1400 Pelham Parkway South, Bronx, New York, USA

    Cecile M. de Baecque, Kinuko Suzuki, Isabelle Rapin, Anne B. Johnson, Doris L. Whethers & Kunihiko Suzuki

  2. Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine and St. Luke's Hospital, New York, USA

    Cecile M. de Baecque, Kinuko Suzuki, Isabelle Rapin, Anne B. Johnson, Doris L. Whethers & Kunihiko Suzuki

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  1. Cecile M. de Baecque
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  2. Kinuko Suzuki
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  3. Isabelle Rapin
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  4. Anne B. Johnson
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  5. Doris L. Whethers
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  6. Kunihiko Suzuki
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de Baecque, C.M., Suzuki, K., Rapin, I. et al. GM2-Gangliosidosis, AB variant. Acta Neuropathol 33, 207–226 (1975). https://doi.org/10.1007/BF00688395

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  • DOI: https://doi.org/10.1007/BF00688395

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