Pediatric Radiology > Neurological > Developmental Abnormalities > Myelination Abnormalities > Genetic Diseases

Genetic Diseases

There are a large number of metabolic, degenerative, and toxic disorders that can result in abnormal myelination patterns. Typically there is abnormally increased T2 signal involving portions of white matter or gray matter, or a combination. The distribution of signal abnormality may help narrow the differential diagnosis.

Leigh disease, a disorder of mitochondria, characterized by abnormal T2 signal in the putamen.
Adrenoleukodystrophy, a peroxisomal disorder, characterized by central white matter T2 abnormality posteriorly.
Mucopolysaccharidoses Type IV, a lysosomal storage disease, characterized by expanded Virchow-Robin spaces and increased T2 signal in the white matter.

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