Chậm trễ trong chẩn đoán người bệnh mắc hội chứng melas với lâm sàng là các đợt bệnh giả đột quỵ - báo cáo ca lâm sàng và điểm lại y văn=Delay in diagnosing a patient with melas syndrome who presented stroke - like episodes in clinical feature

Chậm trễ trong chẩn đoán người bệnh mắc hội chứng melas với lâm sàng là các đợt bệnh giả đột quỵ - báo cáo ca lâm sàng và điểm lại y văn=Delay in diagnosing a patient with melas syndrome who presented stroke - like episodes in clinical feature - case report and literature review

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Tác giả: Trung Đức Lê, Đức Thuận Nguyễn, Văn Đức Nguyễn, Đình Sơn Nhữ, Thị Ngọc Trường Trần

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2024

Mô tả vật lý: tr.319-325

Bộ sưu tập: Metadata

ID: 477903

Thêm vào giỏ

Bệnh não-cơ ty thể, nhiễm toan acid lactic và các đợt bệnh giả đột quỵ (Hội chứng MELAS) là một rối loạn di truyền ty thể hiếm gặp với biểu hiện lâm sàng đa dạng, bao gồm giả đột quỵ, mất thính lực, co giật và nhiễm toan lactic. Đột biến gen hay gặp trong hội chứng này là M.3243A>
G. Bệnh cần được chẩn đoán sớm để giảm thiểu tiến triển bệnh nặng lên do việc dùng thuốc tác động xấu đến ty thể, và cải thiện chất lượng cuộc sống của bệnh nhân (BN). Ca lâm sàng: Một BN nam trẻ tuổi mắc hội chứng MELAS với lâm sàng là các đợt bệnh giả đột quỵ bị chậm trễ trong chẩn đoán (từ lúc có biểu hiện bệnh đến lúc chẩn đoán xác định là 6 năm). Ngay khi có chẩn đoán xác định, BN được chuyển thuốc chống động kinh và thuốc điều trị các triệu chứng bệnh kèm theo (đái tháo đường) phù hợp hơn để giảm ảnh hưởng xấu đến tiến triển của bệnh. Kết luận: Việc xem xét hội chứng MELAS ở các BN trẻ có biểu hiện các đợt bệnh giống đột quỵ nhưng chẩn đoán hình ảnh không phù hợp cần được chú ý.Mitochondrial encephalomyopathy, lactic acidosis, and stroke‑like episode syndrome (MELAS syndrome) is a rare mitochondrial genetic disorder with diverse clinical manifestations, including stroke mimics, hearing loss, seizures and lactic acidosis. The common gene mutation in this syndrome is M.3243A>
G. This disease needs to be diagnosed early to minimize disease progression due to the use of drugs that negatively affect the mitochondria, and improve the patient's quality of life. Case presentation: This article describes a young male patient with MELAS syndrome who had clinical symptoms of stroke mimicking episodes and was delayed in diagnosis (from the time the disease manifested to the time of confirmed diagnosis was 6 years). As the time of confirmed diagnosis, the patient was switched to more appropriate anti-epileptic drugs and drugs to treat accompanying disease symptoms (diabetes) to reduce the negative impact on the progression of the disease. Conclusion: This case report emphasizes the importance of considering MELAS syndrome in young patients presenting with stroke-like episodes but inappropriate imaging.

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