leukodystrophy
Pronunciation: loo-koh-DIS-troh-fee
Inherited disorder affecting white matter development and maintenance, distinct from acquired inflammatory demyelination.
Full Definition
Leukodystrophies are a group of inherited disorders that primarily affect the white matter of the central nervous system, characterized by abnormal development, maintenance, or destruction of myelin. Unlike acquired demyelinating diseases such as multiple sclerosis, leukodystrophies result from genetic mutations affecting various aspects of myelin metabolism, including synthesis, maintenance, or degradation. These conditions typically present in childhood but can manifest in adulthood, and they often have characteristic MRI patterns and biochemical markers that aid in diagnosis.
Usage
Usage note: Distinguish from acquired demyelinating conditions by emphasizing genetic basis.
In Context
- "Genetic testing was ordered to differentiate between leukodystrophy and acquired demyelinating disease." — Diagnostic workup
- "The symmetric white matter changes raised suspicion for an underlying leukodystrophy." — MRI interpretation