Leigh's Disease: The Acute Clinical Course of a Two-Year-Old Child with Subacute Necrotizing Encephalomyelopathy

Erythrocyte transketolase activity in suspected cases of Leigh's disease, or subacute necrotising encephalomyelopathy.

Erythrocyte transketolase activity and the effect of adding thiamine pyrophosphate (% thiamine pyrophosphate effect) were measured in 111 subjects suspected to suffer from Leigh's disease (subacute necrotising encephalomyelopathy). From clinical evidence these subjects were divided into five groups: (1) necropsy-proved cases of subacute necrotising encephalomyelopathy, (2) cases positive for ur...

MR of Leigh's disease (subacute necrotizing encephalomyelopathy).

MR images of three patients with Leigh's disease (subacute necrotizing encephalomyelopathy) were compared with CT findings. In all patients typical lesions in the basal ganglia were identified with both MR and CT. In two patients MR permitted identification of additional lesions not detected with CT. In one patient progression of MR abnormalities over a 4-month period correlated well with clini...

A Case of Mitochondrial Myopathy with Cardiac Involvement: Management in the Same Day Surgery Setting

During the last decade, disorders of the respiratory chain, socalled mitochondrial disorders, have emerged as a major clinical entity. Though Leigh’s disease, also known as Subacute Necrotizing Encephalomyelopathy, has been mostly reported in infancy and childhood, it is described in adults [1]. Leigh's disease is a myopathy causing degradation of motor skills with occasional cardiac involvemen...

Leigh's subacute necrotizing encephalopathy: clinical and biochemical study, with special reference to therapy with lipoate.

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

A generalized defect of complex IV (cytochrome C oxidase, COX) is frequently found in subacute necrotizing encephalomyelopathy (Leigh's syndrome), the most common mitochondrial disorder in infancy. We previously demonstrated the nuclear origin of the COX defect in one case, by fusing nuclear DNA-less cytoplasts derived from normal fibroblasts with mitochondrial DNA (mtDNA)-less transformant fib...