ETHE1

Clinical Characteristics

Neurological abnormalities
•    Early-onset progressive psychomotor regression
•    Seizures
•    Dystonia

Microvasculature abnormalities
•    Petechiae and/or purpura
•    Orthostatic acrocyanosis
•    Hemorrhagic suffusions of mucosal surfaces
•    Chronic hemorrhagic diarrhea

MRI abnormalities
•    Symmetric patchy T2-weighted signals in the basal ganglia, periventricular white matter and dentate nuclei, brain stem, and cerebellar white matter. In some instances, cortical atrophy and diffuse leukoencephalopathy are present.
•    Atypical neuroradiologic patterns were also reported

Laboratory abnormalities
•    Increased blood lactate levels
•    Increased blood C4-acylcarnitine esters
•    Increased blood C5-acylcarnitine esters
•    Increased plasma thiosulphate
•    Increased urinary ethylmalonic acid

Mitochondrial biochemistry abnormalities
•    Reduced cytochrome c oxidase (COX, complex IV) in brain, muscle and colon