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The severity of neurologic symptoms showed considerable variation. Funduscopic perifoveal glistening dots and the characteristic SLS-like ichthyosis were present in all patients. Serial MRI findings showed evidence of retarded myelination and a variable degree of dysmyelination. H MRS showed an accumulation of free lipids in the periventricular white matter, even before the stage of visible dysmyelination. The neurologic consequences of FALDH deficiency show considerable variation. The characteristic pattern of ichtyosis and retinal degeneration are seen consistently, yet they are not pathognomonic. MRI and H MRS findings suggest an accumulation of long-chain fatty alcohol intermediates, resulting in retarded myelination and dysmyelina tion. |
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