Main clinical features
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congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency at the MRI, bilateral cataract at birth, at the end of the first year of life, development delayed, slowly progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs, mental retardation ranged from mild to moderate
Pelizaeus-Merzbacher-like disease
on MRI abnormalities consistent with diffuse cerebral hypomyelination, whereas the cortex and deep gray matter structures were preserved |