Methylmalonic acidaemia masquerading as a neurodegenerative disorder [0.03%]
以亚急性坏死性脑脊髓病样发作为表现的甲基丙二酸尿症一例
Nikita Diwan,Shalini Tripathi,Mala Kumar
Nikita Diwan
We present the case of a toddler displaying neuroregression post-acute gastroenteritis, initially suggesting neurodegenerative disorders. Further investigations showed atypical results-neuroimaging was inconsistent with suspected disorders,...
Case Reports
BMJ case reports. 2025 Jan 23;18(1):e262804. DOI:10.1136/bcr-2024-262804 2025
Differential effects of mTOR inhibition and dietary ketosis in a mouse model of subacute necrotizing encephalomyelopathy [0.03%]
靶向mTOR抑制和生酮饮食对subacute坏死性脑脊髓病小鼠模型的治疗效果差异研究
Rebecca Bornstein,Katerina James,Julia Stokes et al.
Rebecca Bornstein et al.
Genetic mitochondrial diseases are the most frequent cause of inherited metabolic disorders and one of the most prevalent causes of heritable neurological disease. Leigh syndrome is the most common clinical presentation of pediatric mitocho...
Christopher Fecek,Debopam Samanta
Christopher Fecek
Subacute necrotizing encephalomyelopathy (SNE), also known as Leigh syndrome, is a genetically heterogeneous disease that primarily affects the central nervous system. Originally characterized in 1951, the syndrome is characterized by focal...
Book
. DOI:
Adult Presentation of Subacute Necrotizing Encephalomyelopathy in Two Siblings [0.03%]
两个兄弟姐妹中的亚急性坏死性脑脊髓病的成人期表现
Kumail Khandwala,Fatima Mubarak
Kumail Khandwala
Subacute necrotizing encephalomyelopathy (SNE) or Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder typically manifesting in the pediatric age group with variable clinical presentation and genetic heterogeneity. ...
Case Reports
Cureus. 2019 Aug 29;11(8):e5522. DOI:10.7759/cureus.5522 2019
Leigh's subacute nectrotizing encephalomyelopathy: Possible diagnosis by C.T. Scan [0.03%]
Leigh综合征亚急性坏死性脑脊髓病的CT诊断价值
Varsha M Bhavsar,N B Kumta
Varsha M Bhavsar
Impact commentaries. Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome) [0.03%]
亚急性坏死性脑脊髓病（ Leigh病；Leigh综合征）
P N Leigh,S Al-Sarraj,S DiMauro
P N Leigh
Leigh's Disease: The Acute Clinical Course of a Two-Year-Old Child with Subacute Necrotizing Encephalomyelopathy [0.03%]
Leigh病两岁患儿亚急性坏死性脑脊髓病急性期临床表现报告
Bettina Zinka,Andreas Buettner,Matthias Graw
Bettina Zinka
We report the untypical clinical course of a previously healthy two-year-old girl, who died suddenly and unexpectedly after an episode of vomiting. At forensic autopsy no other pathological findings could be diagnosed than multiple reddish,...
Case Reports
Case reports in medicine. 2010:2010:986302. DOI:10.1155/2010/986302 2010
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review [0.03%]
亚急性坏死性脑脊髓病神经系统功能障碍与外伤之间的关系：病例报告及文献回顾
A S Wierzbicki
A S Wierzbicki
Peroxisomes are involved in the synthesis and degradation of complex fatty acids. They contain enzymes involved in the alpha-, beta- and omega-oxidation pathways for fatty acids. Investigation of these pathways and the diseases associated w...
Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy) [0.03%]
突发死亡的机制和莱格综合征（亚急性坏死性脑脊髓病）的尸体解剖发现
Regula Wick,Grace Scott,Roger W Byard
Regula Wick
A 21-year-old previously-well woman who was undergoing medical investigations for problems with balance and suspected multiple sclerosis, developed a headache and breathing difficulties, and died suddenly and unexpected at home. The autopsy...
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