Main clinical features
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systemic disorder resulting in lack of neurologic development and death in infancy
in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation
optic discs were pale and cupped, and MRI showed an abnormal gyral pattern associated with dysmyelination
also seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes |