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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X


TORRES, Luiz Fernando Bleggi et al. Neuronal ceroid lipofuscinosis: report of four cases with study by rectal histochemistry, conjunctival electron microscopy, and autopsy. Arq. Neuro-Psiquiatr. [online]. 1994, vol.52, n.1, pp.52-57. ISSN 0004-282X.

The authors present the neuropathological and clinical findings of four cases of ceroid lipofuscinosis or Batten's disease. In two cases the autopsy findings showed brain atrophy and nerve cells packed with cytoplasmic granules compatible with lipofuscin. One case was diagnosed by histochemical techniques in frozen sections of rectal biopsy which showed myoenteric ganglion cells with cytoplasmic acid phosphatase positive material as well as numerous macrophages filled with lipofuscin in the mucosae. The fourth case was diagnosed by electron microscopy of conjunctival biopsy which showed cytoplasmic inclusions of membranous, curvilinear and fingerprint types.

Keywords : Batten's disease; lipofuscinosis; electron microscopy; histochemistry.

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