Leigh dis·ease

(lē), [MIM*256000]

a rare fatal mitochondrial disorder affecting principally infants and young children, manifested as seizures, psychomotor retardation, spasticity, myoclonus, optic atrophy, cranial nerve palsies, and ataxia; due to deficiencies of cytochrome c oxidase or NADH-ubiquinone oxidoreductase or other enzymes involved in energy metabolism; pathologically, there is widespread symmetric necrosis; most often autosomal recessive transmisstion, but X-link recessive and mitochondrial inheritances have been described.

Synonym(s): Leigh syndrome, necrotizing encephalomyelopathy, necrotizing encephalopathy, subacute necrotizing encephalomyelopathy

Farlex Partner Medical Dictionary © Farlex 2012

Leigh dis·ease

(lā di-zēz')

Subacute encephalomyelopathy affecting infants, causing seizures, spasticity, optic atrophy, and dementia; the genetic causation is heterogeneous; may be associated with deficiency of cytochrome c oxidase or nicotinamide adenine dinucleotide (reduced form)-ubiquinone oxidoreductase or other enzymes involved in energy metabolism. Autosomal recessive, X-linked recessive and mitochondrial inheritance have been described; mutations have been identified in the surfeit-1 gene (SURF) on chromosome 9, in a mtDNA-encoded subunit of adenosine triphosphate synthase, in the X-linked E1-alpha subunit of pyruvate dehydrogenase, and in several subunits of mitochondrial complex I.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Leigh,

Denis, English psychiatrist, 1915–.

Leigh disease - subacute encephalomyelopathy affecting infants. Synonym(s): subacute necrotizing encephalomyelopathy; necrotizing encephalomyelopathy

Leigh syndrome

Medical Eponyms © Farlex 2012

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References in periodicals archive

Wilson disease, Leigh disease, infantile bilateral necrosis, and mitochondrial encephalopathies also show involvement of the lentiform nucleus, but in these disorders the putamen is predominantly involved rather than the globus pallidus.

HALLERVORDEN SPATZ DISEASE

Examples of inherited metabolic diseases with asymmetric neurological symptoms include dystonia in Segawa disease, Leigh disease, unilateral tremor in atypical forms of glutaric aciduria type I and Wilson disease (11,12).

REGRESSION of ASYMMETRIC UPPER EXTREMITY TREMOR AFTER LIVER TRANSPLANTATION IN A PATIENT WITH HEPATIC ENCEPHALOPATHY: CASE REPORT

Other diseases which may cause metabolic damage to the globus pallidi include Leigh Disease, propionic acidemia, and poisoning from cyanide or carbon monoxide.

Brain magnetic resonance imaging with bilateral hyperintensities in the Globus Pallidi

This finding is by no means specific to methanol toxicity but is seen also in a variety of conditions, including Wilson disease and Leigh disease. Putaminal necrosis and hemorrhage probably result from the direct toxic effects of methanol metabolites and metabolic acidosis in the basal ganglia6.

BILATERAL PUTAMEN HAEMORRHAGIC NECROSIS DUE TO METHANOL INTOXICATION

Keywords: Leigh disease, Moyamoya syndrome, Childhood, MRI.

Childhood moyamoya disease accompanying leigh syndrome

The brain MRI results were compatible with a diagnosis of Leigh disease, also known as subacute necrotizing encephalomyelopathy, a rare neurometabolic disorder that affects the central nervous system.

A 9-month-old boy with seizures and discrepant urine tryptophan concentrations

Joshy was diagnosed with Leigh disease. He attends Beaver Acres Elementary School, where he enjoys listening to stories, walking in a gait trainer, and scooting around in his adaptive chair.

FAMILIAR FACES

These include defects in fatty acid metabolism, mitochondrial disorders, lactic acidosis, and Leigh disease. A patient with one of these inborn errors of metabolism may have failure of the heart to maintain adequate circulation or become comatose when given a drug, such as valproate, which alters carnitine metabolism.

CARNITINE DEFICIENCY IN EPILEPSY: Research Reviewed