| LEIGH`S SYNDROME, SUBACUTE NECROTIZING ENCEPHALOPATHY (SNE) | |
| ENCEPHALOPATHY, NECROTIZING | |
|
256000
OMIM = Online Mendelian Inheritance of Men | |
|
506 | |
| nuclear and mitochondrial DNA defects | |
| rare (>130 cases) autosomal recessive, mitochondrial COX10 | |
| Laboratory findings | Alanine inc (plasma) Alanine inc (urine) Complex I activity () Cytochrome c oxidase () Fumaric acid inc (urine) L-Lactic acid normal/inc (cerebrospinal fluid) L-Lactic acid inc (plasma) L-Lactic acid inc (urine) Succinic acid inc (urine) |
| Symptoms | lactic acidosis ataxia dystonia early death muscle weakness myopathy ophthalmoplegia peripheral neuropathy psychomotor regression seizures vomiting Amino acids, plasma Amino acids, urine apnea clumsiness, coordination defect or unsteadiness CT, brain, abnormalities [-] developmental regression dysarthria encephalopathy failure to thrive hearing defect, deafness hyperreflexia hypertrichosis hypotonia liver involvement or dysfunction mental retardation motor retardation MRI, brain, gray matter abnormalities [-] MRS, brain, basal ganglia, lactate [-] nystagmus onset, childhood onset, infancy optic atrophy psychomotor retardation respiratory insufficiency strabismus tremor or twitching weight loss |