Leigh disease

(redirected from necrotizing encephalopathy)

Leigh dis·ease

(), [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.

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.


Denis, English psychiatrist, 1915–.
Leigh disease - subacute encephalomyelopathy affecting infants. Synonym(s): subacute necrotizing encephalomyelopathy; necrotizing encephalomyelopathy
Leigh syndrome
References in periodicals archive ?
Acute necrotizing encephalopathy is a rare form of encephalopathy that affects healthy children aged 5 months to 11 years, which has specific imaging findings and which may be rapidly progressive and even fatal.
Also known as a(https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943037/) cute necrotizing encephalopathy , this disease is characterized by brain damage.
In postinfectious (e.g., influenza A, parainfluenza, and Mycoplasma pneumoniae) acute necrotizing encephalopathy, often occurring in children, the thalamus is preferentially involved (often with associated brainstem, basal ganglia, cerebellum, or periventricular white matter lesions), seen as hyperintensity on T2-weighted and FLAIR imaging, and sometimes complicated with hemorrhage (Figure 20).
Orr et al., "Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2," American Journal of Human Genetics, vol.
Novel human reovirus isolated from children with acute necrotizing encephalopathy. Emerg Infect Dis.
Two adults progressed to encephalitis lethargica (8), (14) and 4 children to acute necrotizing encephalopathy, (16), (19), (21), (22) while other reported cases presented with encephalomyelitis, (10) meningoencephalitis, (9) or pseudobulbar palsy, [11] with accompaniment of severe intracranial hypertension.
Few patients had extrapyramidal and/or pyramidal sequelae due to the progression to encephalitis lethargica (8), (14) (8%) and acute necrotizing encephalopathy (8%), (16), (21) or following severe encephalopathy (4%).
Influenza-associated acute necrotizing encephalopathy has been well recognized but not yet been reported with novel influenza A in Turkey.
Andre was diagnosed with necrotizing encephalopathy, triggered by the H1N1 flu virus.
Most children with acute encephalopathy, such as acute necrotizing encephalopathy (25) and acute encephalopathy with biphasic seizures and late reduced diffusion (26), were of Japanese or east Asian descent.
Thus, seizures appear to be the most common reason for seeking care for children and adults, followed by encephalopathy, in particular, acute necrotizing encephalopathy in children (4).
Here, we report the isolation of a novel human type 2 reovirus (named MRV2Tou05) from 2 children hospitalized with acute necrotizing encephalopathy (ANE).

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