Leigh's syndrome

Also known as outlined Leigh's encephalopathy, subacute necrotizing encephalopathy, children Wernick's disease (misnomer), yes infants subacute conduct genetic degenerative diseases. Cause pathogenesis is still unclear and may autosomal recessive inheritance. Brain patient found three phosphorylation of thiamine deficiency, central nervous system symmetry necrotic foci, small blood vessels and capillaries significant hyperplasia, but no special brain Department changes speculate thiamine deficiency may be related to the congenital metabolic disorders. Clinical manifestations in February-six-year-old onset after several weeks or months of death. Mild start to reduce muscle tension, short cramps, moderately retarded tendon reflexes. Add sexual symptoms, and eventually developed into a stupor, lethargy, myoclonic spasm or severe muscle tension reduction, reflecting the disappearance of breathing difficulties and can not swallow, generalized weakness, and failure. Ptosis, ophthalmoplegia, visually impaired or disappeared, a vision center, dark spot, Mydriasis or reduced. BLA and acetone increased. CSF protein increased, see diffuse EEG slow wave and the wave attack. Differential diagnosis (1) Primary torsion dystonia (primary torsion spasm) usually in infants Tong onset. To dystonia and the limbs, trunk and even the entire keen not to reverse the arbitrary characteristics, trunk and paraspinal muscles involvement has been the subject of systemic or reverse the spiral movement of the disease is a characteristic performance. Reverse spastic movements or autonomy in the spirit of tension increased after falling asleep completely disappear, strength, reflexes and depth of feeling and intelligence in general without change, but may also have impaired intelligence. (2) Athetosis hyperactivity (athetosis) features a tough, hands and muscle occurred slowly, reverse the irregular movement closer to the distal end of the limbs significantly. Congenital birth normally after emerging involuntary movement, growth retardation, which can be involuntary movement due to emotional tension, stimulate the spirit of free movement or aggravating, to reduce the quiet, stop when sleep, muscle spasm when tension increased, normal muscle relaxation. Systemic feel normal, half have mental retardation. (3) epilepsy (epilepsy) in Leigh's syndrome may be related to the early myoclonic epilepsy confusion. However, the latter's sudden, short-term, rapid contraction of the muscles throughout the body may also may be restricted to a particular location, probably single, But common rapid repeat. Normal remission, no symptoms of nerve involvement. EEG was mostly in spikes.