LEUKODYSTROPHY

“ALEXANDER DISEASE”

“ Presents in infancy. Histology shows increased density of Rosenthal fibres. MRI •  Progressive demyelination beginning with the frontal lobes and eventually involving the entire hemispheres •  Enhancement following contrast administration is seen in Alexander’s disease•  Brain enlargement,macrocephaly  ” For Radiology Cases, Discussion join: Radiology Made Easy on Facebook  Subscribe to our youtube channel for …

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“LEIGH DISEASE”

“ A mitochondrial defect of childhood/infancy.  May be due to low thiamine (like Wernicke/Korsakoff syndrome). MRI •  Focal areas of necrosis in the basal ganglia, thalamus and sub-cortical white matter•  Characteristically involves the periacqueductal grey matter (like Wernicke/Korsakoff syndrome) ” For Radiology Cases, Discussion join: Radiology Made Easy on Facebook  Subscribe to our youtube channel …

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“ADRENOLEUKODYSTROPHY”

“ Typically affects boys aged 5-10 years.  The most common mode of inheritance is X-linked recessive.  The disease starts around the lateral trigones.  Coexists with adrenal insufficiency (neurological symptoms appear first). Death occurs within 2 years. MRI •  Preferential symmetrical involvement of the optic and auditory pathways, the splenium of the corpus callosum, posterior periventricular …

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Pelizaeus Merzbacher disease

“ X-linked disease leading to hypomyelination.  Typically presents in young males and has a protracted course. MRI Diffuse high T2 signal in the white matter with involvement of the sub-cortical U-fibres in all cases. Relative sparing of the perivascular white matter, which produces a ‘tigroid’ appearance like metachromatic leukodystrophy. ” For Radiology Cases, Discussion join: …

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“CANAVAN DISEASE”

“ From build-up of N-acetylaspartate (NAA) from enzyme deficiency.  Begins in first year of life.  Macrocephaly and brain enlargement. MRI •  Involvement of all white matter and deep grey matter (especially the basal ganglia and thalami) •  involving the subcortical U-fibers •  Marked NAA peak on MRI spectroscopy ” For Radiology Cases, Discussion join: Radiology Made Easy …

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“METACHROMATIC LEUKODYSTROPHY”

“ This is an autosomal recessive disease presenting at less than 2 years of age.  It is the most common leukodystrophy and is associated with gait disturbance and learning disability.  Death occurs within 5 years. MRI Progressive, symmetrical white matter lesions. It involves the periventricular white matter and cerebellum, but spares the subcortical white matter.  …

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