"Metachromatic leukodystrophy has an estimated prevalence of ~1:100,000 and typically manifests between 12 to 18 months of age. The disease can sometimes be classified according to the time of onset:"
"T1: affected areas are low signal"
"MR spectroscopy: (of affected white matter)"
"Metachromatic leukodystrophy (MLD) is the most common hereditary (autosomal recessive) leukodystrophy and is one of the lysosomal storage disorders. It has characteristic imaging features including peri-atrial and to a lesser extent frontal horns leukodystrophy as well as periventricular perivenular sparing results in "tigroid pattern" on fluid-sensitive MRI sequences."
"juvenile (onset between 3-10 years)"
"Metachromatic leukodystrophy is classified as a dysmyelinating disease and carries an autosomal recessive inheritance. It arises from a deficiency of the enzyme arylsulfatase A as a result of a mutation in the arylsulfatase A (ARSA) gene located on chromosome 22q13. This results in the accumulation of 3-O-sulfogalactosylceramide (sulfatide) in various organs including the central nervous system (Schwann cells, oligodendrocytes, and some neurones) impairing myelination and function 8."
Expected headings
"Signal characteristics"
"impaired school performance; similar features as in late infantile form but slower progression"