Torres L F, Bruck I, Antoniuk S, Oliva L, De Noronha L, Pereira J L
Unidade de Neuropatologia e Microscopia Eletrônica, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brasil.
Arq Neuropsiquiatr. 1994 Mar;52(1):52-7. doi: 10.1590/s0004-282x1994000100009.
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 diagnosed by electron microscopy of conjunctival biopsy which showed cytoplasmic inclusions of membranous, curvilinear and fingerprint types.
作者介绍了4例蜡样脂褐质沉积症或巴顿病的神经病理学和临床发现。其中2例尸检结果显示脑萎缩,神经细胞内充满与脂褐质相符的胞质颗粒。1例通过直肠活检冰冻切片的组织化学技术诊断,显示肌间神经节细胞含有胞质酸性磷酸酶阳性物质,以及黏膜中有大量充满脂褐质的巨噬细胞。第4例通过结膜活检的电子显微镜检查诊断,显示有膜状、曲线状和指纹状的胞质内含物。