Bệnh não cơ do ty thể

Springer Science and Business Media LLC - Tập 74 - Trang 287-293 - 1987
A. Oldfors1, M. Tulinius2, E. Holme3, H. Kalimo1, B. Kristiansson2, B. O. Eriksson2
1Division of Neuropathology, Department of Pathology I, Gothenburg University, Sahlgren Hospital, Gothenburg, Sweden
2Departments of Pediatrics I and II, Gothenburg University, East Hospital, Gothenburg, Sweden
3Department of Clinical Chemistry, Gothenburg University, Sahlgren Hospital, Gothenburg, Sweden

Tóm tắt

Chúng tôi báo cáo các phát hiện lâm sàng và giải phẫu bệnh ở một thanh niên 18 tuổi mắc một rối loạn tiến triển mãn tính bao gồm toxa máu lactat, suy giảm tâm thần và cơn động kinh, đôi khi kèm theo các cơn đột quỵ giống như xuất hiện với liệt nửa người tạm thời và mù vỏ não. Anh đã qua đời do suy tim sung huyết. Giải phẫu tử thi cho thấy các tổn thương ở chất xám của não. Cả hạch putamen và vỏ não chẩm - đỉnh đều cho thấy sự mất đi của các nơron và sự tăng sinh của bạch cầu đơn nhân, tế bào đệm và mạch máu. Có sự giảm đáng kể số lượng nơron ở hạch dưới, và sự giảm nhẹ số lượng tế bào Purkinje. Các nghiên cứu về cơ xương cho thấy có sợi đỏ rối rắm và ty thể bất thường về mặt cấu trúc. Tim bị phình to: có sự tích tụ của ty thể trong các sợi cơ. Gan cho thấy sự thoái hóa mỡ đáng kể. Các phân tích sinh hóa cho thấy hoạt động bình thường của pyruvate dehydrogenase trong tiểu cầu, pyruvate carboxylase trong bạch cầu lympho, biotinidase trong huyết thanh cũng như succinate dehydrogenase và cytochrome c oxidase. Các đặc điểm của rối loạn này khác biệt ở nhiều khía cạnh so với các trường hợp bệnh não cơ do ty thể đã được báo cáo trước đây và không thể được phân loại vào bất kỳ thực thể bệnh lý cụ thể nào.

Từ khóa

#bệnh não cơ #ty thể #suy tim #động kinh #rối loạn tiến triển mãn tính

Tài liệu tham khảo

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