Imaging of adult leukodystrophies

Abstract

Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults. In adults, leukodystrophies may present a distinct clinical and imaging presentation other than those found in childhood. Clinical awareness of late-onset leukodystrophies should be increased as new therapies emerge. MRI is a useful tool to evaluate white matter disorders and some characteristics findings can help the diagnosis of leukodystrophies. This review article briefly describes the imaging characteristics of the most common adult leukodystrophies.

Following the Natural History Of A Probable Adrenoleukodystrophy Case And Literature Review

“…Dysfunctions that affect predominantly the white matter of the brain are called leukoencephalopathies;when genetically determined, they are defined as leukodystrophies [1,4] . The more widely use ofMRI has been allowinginfer the etiology, while molecular genetics make specific diagnosis [4] .…”

“…Although leukodystrophy is a preeminent neuropediatric field, the possible late phenotypes of some entities or the slow evolution of others make these disorders arise between all clinicians. When beginning in adulthood leukodystrophy can start with cognitive decline or behavioral changes [4,5] . The present patient initiated with motor symptoms when adolescent and just in the last couple of years he developed cognitive dysfunction.…”

“…A. Addison-only (Adrenocortical insufficiency): may be present in boys or men and can be the only symptom for years or even decades until neurological symptoms emerge [2,4] . B. Cerebral: is moreprevalent in childhood, which, actually, corresponds to approximately 35% of X-ALD [6] .…”

“…AMNis a non-inflammatory distal axonopathyinvolves corticospinal tracts and dorsal columns of spinal cord, causing spastic paraparesis, sphincter dysfunction, sensory ataxia with impaired vibration sense. It may also affect peripheral neuropathy, causing pain [4] . AMN develops slowly (one or two decades) and manifests with lower limbs disability, sparing upper ones [2] .…”

“…The adult form (>16 years old) has a slow course and mental deterioration and behavioral abnormalities are the most commonsigns [6,10] . MRI shows demyelinating periventricular, genu/ splenium of the corpus callosum, descending pyramidal tracts, but spares subcortical regions and there is a frontal predominance [4,6] . III.…”