Neurometabolic Diseases
Leukodystrophy
Leukodystrophies are a subset of leukoencephalopathies - diseases of the white matter of the central nervous system.
Leukoencephalopathies could be considered to cover all white mater disease including microvascular disease and multiple sclerosis (MS). The term leukodystrophy is generally reserved for inherited disorders of white matter, but often covers a number of different pathological processes including mitochndrial disease, disorders of metabolism and some forms of vascular disease.
Leukodystrophy is often raised as a possibility in patients who have been found to have an abnormally heavy burden of white matter lesions on MRI.
The prospect of investigating a diverse group of rare diseases can be daunting; so we have produced a 'Practical guide' for the general neurologist.
For specialist opinion, please refer to UHB FAO Dr Hayton