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  • Title: [Infantile generalized ceroid-Lipofuscinosis (type Hagberg-Santavuori). A new case and a retrospective study of two observations (author's transl)].
    Author: Martin JJ, Ceuterick Ch, Edgar GW.
    Journal: Acta Neurol Belg; 1976; 76(2):103-22. PubMed ID: 183451.
    Abstract:
    Three post mortem studies of cases of infantile generalized ceroid-lipofuscinosis are reported: two of them were published under other classifications but our retrospective study warrants their inclusion in the infantile group of ceroid-lipofuscinosis. The children died at the respective ages of 4, 5 8/12 and 8 years and this allows interesting morphological comparisons: 1 degree there is an increasingly severe loss of cortical neurons, of Purkinje cells and of neurons in the griseum pontis with age. Intracytoplasmic inclusions mainly of a granular osmiophilic nature were found in all other neurons and glial cells; 2 degrees the involvement of the visceral organs is especially striking and permits an easier diagnosis under light microscopy, unlike the late infantile and juvenile forms of ceroid-lipofuscinosis. Electron microscopy supports the observation by Anzil et al. (1975) concerning the relative pleiomorphism of the inclusions; 3 degree the diffuse accumulation of inclusions in the skin and its appendages ensures a rapid diagnosis by skin biopsy.
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