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Neuropediatrics 1979; 10(3): 245-263
DOI: 10.1055/s-0028-1085328
Original article

© 1979 by Thieme Medical Publishers, Inc.

Electron Microscopy of Skin and Peripheral Blood Lymphocytes in Infantile (Santavuori) Neuronal Ceroid Lipofuscinosis

M. E. Haynes1 , J. I. Manson2 , R. F. Carter1 , E. Robertson3
  • 1Dept. of Histopathology, Adelaide Children's Hospital INC., North Adelaide, South Australia 5006
  • 2Dept. of Neurology, Adelaide Children's Hospital INC., North Adelaide, South Australia 5006
  • 3Dept. of Chemical Pathology, Adelaide Children's Hospital INC., North Adelaide, South Australia 5006
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Publication History

1978

1978

Publication Date:
18 November 2008 (online)

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Skin punch biopsies and peripheral blood lymphocyte preparations from two siblings with early infantile (Santavuori) neuronal ceroid lipofuscinosis have been examined by electron microscopy. In both cases characteristic osmiophilic inclusion bodies were found in various cells in the skin and in lymphocytes.

In one case, lymphocyte inclusions were detected before the onset of any symptoms as a result of a family study.

This indicates the possibility of screening lymphocytes of siblings of affected patients with a view to early detection of the disorder.

Early infantile type neuronal ceroid lipofuscinosis - electron microscopy - Santavuori syndrome

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