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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
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Article Abstract
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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chromosome 17
fatty acid dehydrogenase deficiency
genetic neurologic disorders
inborn errors of metabolism
mental retardation
MRI
MRI,abnormal
MRS
neurocutaneous disease
neuroichthyosis
quadriplegia
retinal degeneration
review article
Sjogren-Larsson syndrome
skin,lesions in neurologic disorders
spastic diplegia
white matter disease

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