Leigh Syndrome
Leigh syndrome

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Description from OMIM

Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998). Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (252010), complex II deficiency (252011), complex III deficiency (124000), complex IV deficiency (cytochrome c oxidase; 220110), or complex V deficiency (604273).

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 8602753 2011-10-18
Developmental delay nervous 92 % 19135620 2011-10-05
Basal ganglia pathology nervous 92 % 19135620 2011-10-14
Lactate accumulation circulatory 91 % 8602753 2011-10-05
Hypotonia nervous 86 % 8602753 2011-10-05
Seizures nervous 79 % 19135620 2011-10-05
Hyperactive reflexes nervous 66 % 8602753 2011-10-05
Muscle weakness skeletal 58 % 8602753 2011-10-05
Apnea respiratory 57 % 19135620 2011-10-05
Spasticity nervous 54 % 8602753 2011-10-05
Failure to thrive skeletal 49 % 8602753 2011-10-05
Nystagmus nervous 46 % 8602753 2011-10-05
Seizures nervous 40 % 8602753 2011-10-05
Ataxia nervous 37 % 8602753 2011-10-05
Ophthalmoplegia nervous 36 % 19135620 2011-10-05
Ophthalmoplegia nervous 34 % 8602753 2011-10-05
Optic atrophy nervous 34 % 8602753 2011-10-05
Vomiting digestive 34 % 8602753 2011-10-05
Chorea nervous 29 % 8602753 2011-10-05
Spasticity nervous 21 % 19135620 2011-10-05
Chorea nervous 21 % 19135620 2011-10-05
Cardiomyopathy circulatory 21 % 19135620 2011-10-05
Dystonia nervous 20 % 8602753 2011-10-05
Ptosis nervous 17 % 8602753 2011-10-05
Retinitis pigmentosa nervous 14 % 19135620 2011-10-05
Vomiting digestive 14 % 19135620 2011-10-05
Mental retardation nervous 7 % 19135620 2011-10-05
Neuropathy nervous 6 % 8602753 2011-10-05

List of references:

Leigh syndrome: clinical features and biochemical and DNA abnormalities.
S Rahman, R B Blok, H H Dahl, D M Danks, D M Kirby, C W Chow, J Christodoulou, D R Thorburn,

We investigated the etiology of Leigh syndrome in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with some atypical features. Biochemical or DNA defects were determined in both groups, ie, 80% in the tightly defined group and 41% in the "Leigh-like" group. Eleven patients had mitochondrial DNA point mutations (nucleotide [nt] 8993 T to G, nt 8993 T to C, or nt 8344 A to G) and 1 Leigh-like patient had a heteroplasmic deletion. Twenty-nine patients had enzyme defects, ie, 13 respiratory chain complex I, 9 complex IV, and 7 pyruvate dehydrogenase complex (PDHC). Complex I deficiency is more common than recognized previously. Six PDHC-deficient patients had mutations in the X-chromosomal gene encoding the E1alpha subunit of PDHC. Parental consanguinity suggested autosomal recessive inheritance in two complex IV-deficient sibships. We found no strong correlation between the clinical features and basic defects. An assumption of autosomal recessive inheritance (frequently made in the past) would have been wrong in nearly one-half (11 of 28 tightly defined and 18 of 41 total patients) of those in whom a cause was found. A specific defect must be identified if reliable genetic counseling is to be provided.

Annals of neurology - Mar 1996

Leigh syndrome: clinical and neuroimaging follow-up.
Hsiu-Fen Lee, Chi-Ren Tsai, Ching-Shiang Chi, Huei-Jane Lee, Clayton Chi-Chang Chen,

Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mitochondrial configurations under electron microscopy, as well as molecular analysis. Of the 14 cases, 11 presented clinical features before age 1 (79%). All 14 presented with variable symptoms of central nervous system involvement. The three most common symptoms were developmental delay (12/14; 86%), seizures (11/14; 79%), and altered consciousness (8/14; 57%). Extra-central nervous system manifestations were observed in 10 of the 14 cases, the most common symptoms being failure to thrive (5/14; 36%), pericardial effusion and dilated cardiomyopathy (3/14; 21%), and liver function impairment (3/14; 21%). In all 14 cases, neuroimaging revealed abnormal findings over the basal ganglion, brainstem, or both. The putamen was the most common lesion site in the basal ganglia (11/12; 92%). Cranial magnetic resonance imaging was used for follow-up in 6 cases because of changes in clinical features; in all 6 cases the imaging revealed evolution in the brain. Cranial magnetic resonance spectroscopy was performed in 3 cases and in 2 of them revealed lactate peaks during deterioration of the disease course. The prognosis for Leigh syndrome was poor during long-term follow-up. Seven cases were early fatalities, before 1 year and 6 months of age. Follow-up cranial magnetic resonance imaging together with magnetic resonance spectroscopy in cases with clinical evolution is helpful for monitoring this disease.

Pediatric neurology - Feb 2009