Acute intermittent porphyria-related leukoencephalopathy

Conclusions:
Bi-allelic HMBS variants have been reported before as cause of severe encephalopathy with early childhood fatality in acute intermittent porphyria. Our cases demonstrate childhood onset, but milder and slower disease progression in middle-aged patients. With this, a novel phenotype can be added to the disease spectrum associated with bi-allelic HMBS variants: a leukoencephalopathy with early onset, slowly progressive neurologic symptomatology, and long life expectancy.

Source: Neurology - September 18, 2016 Category: Neurology Authors: Kevelam, S. H., Neeleman, R. A., Waisfisz, Q., Friesema, E. C. H., Langendonk, J. G., van der Knaap, M. S. Tags: MRI, Leukodystrophies ARTICLE Source Type: research