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Angelman's syndrome: a neuropathological study

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Summary

We report the neuropathological findings of a 3-year-old boy with Angelman's syndrome. The main abnormalities were macroscopic consisting of small temporal and frontal lobes which also showed disorganised and irregular gyri. The occipital lobes appeared flattened but were otherwise normal as were the parietal lobes. The brain stem and cerebellum appeared normal externally. Microscopically there was irregular distribution of neurons in layer 3 and in the cerebral white matter a few subcortical ectopic neurons were present in the temporal and frontal lobes. A single “Purkinje” cell heterotopia was seen but otherwise the cerebellum appeared normal.

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Authors and Affiliations

  1. Department of Neuropathology, Royal Perth Hospital, Wellington Street, 6000, Perth, Western Australia

    T. Kyriakides & B. A. Kakulas

  2. Department of Pathology, Princess Margaret Hospital, Perth, Western Australia

    L. A. Hallam & P. Silberstein

  3. Department of Paediatrics, Princess Margaret Hospital, Perth, Western Australia

    L. A. Hallam & P. Silberstein

  4. Clinical Genetics Unit, King Edward Memorial Hospital for Women, Subiaco, Western Australia

    A. Hockey

Authors
  1. T. Kyriakides
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  2. L. A. Hallam
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  3. A. Hockey
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  4. P. Silberstein
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  5. B. A. Kakulas
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Kyriakides, T., Hallam, L.A., Hockey, A. et al. Angelman's syndrome: a neuropathological study. Acta Neuropathol 83, 675–678 (1992). https://doi.org/10.1007/BF00299421

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  • DOI: https://doi.org/10.1007/BF00299421

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