“ X-linked disease leading to hypomyelination.   Typically presents in young males and has a protracted course. MRI Diffuse high T2 signal i...

“ This is an autosomal recessive disease presenting at less than 2 years of age .  It is the most common leukodystrophy and is associated w...

“ A mitochondrial defect of childhood/infancy.  May be due to low thiamine (like Wernicke/Korsakoff syndrome). MRI •   Focal areas of necro...

“ This is typically diagnosed at 3-6 months of age.  Expect d ysmorphic facies and enlarged ears.   It is fatal by 2 years of age. CT •   Hy...

“ From build-up of N-acetylaspartate (NAA) from enzyme deficiency.  Begins in first year of life.  Macrocephaly and brain enlargement. MRI •...

“ Presents in infancy. Histology shows increased density of Rosenthal fibres. MRI •   Progressive demyelination beginning with the frontal l...

“ Typically affects boys aged 5-10 years .  The most common mode of inheritance is X-linked recessive.  The disease starts around the latera...