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For a clinical review of the topic in Current Diagnosis & Treatment, 3e please go to Chapter 24: Mitochondrial Diseases.


The leukodystrophies are diseases that affect the white matter of the CNS (Table 31–1). These diseases can begin in infancy, childhood, or adulthood. Infantile-onset leukodystrophies are generally characterized by initial hypotonia followed by spasticity and intellectual disability. Seizures may also occur. In childhood-onset leukodystrophies, there is typically developmental and motor regression. Adult-onset leukodystrophies are characterized by dementia, psychiatric symptoms, and development of spasticity.

TABLE 31–1Clinical & Laboratory Features of the Leukodystrophies.

Many individual leukodystrophies have particular clinical hallmarks (e.g., neuropathy in Krabbe disease and metachromatic leukodystrophy) and particular distributions of white matter changes on MRI (involving or sparing the juxtacortical U fibers; frontal vs posterior predominant). Adrenoleukodystrophy, Krabbe disease, and metachromatic leukodystrophy can be treated with bone marrow transplantation, but the other leukodystrophies are treated supportively. Distinctive clinical and imaging features (beyond core features listed above) and genetics of the leukodystrophies are listed in Table 31–1.

Adrenomyeloneuropathy is a subtype of adrenoleukodystrophy that presents in adulthood with myelopathy, neuropathy, and adrenal insufficiency (the brain can be involved, but often is not, unlike the other leukodystrophies). Therefore, adrenomyeloneuropathy should be considered in the differential diagnosis for combined myelopathy and neuropathy (myeloneuropathy), as can also be seen with vitamin B12 deficiency and copper deficiency. ...

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