Main clinical features
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neurological deficiency with mental retardation, acute encephalopathy and loss of psychomotor abilities, hypotonia, alternating esotropia, seizures, pseudo-ptosis and mental retardation with a cerebellar syndrome (prominent ataxia and action myoclonus), growth delay and short stature
nerve biopsy showed chronic axonal neuropathy and a muscle biopsy showed a neurogenic process, but no evidence of a mitochondrial disorder ; MRI showed ventriculomegali with atrophy, and sonar spectroscopy revealed high levels of lactate in the gray matter |