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J Child Neurol. 2014 Jan;29(1):88-92. doi: 10.1177/0883073812465012. Epub 2012 Nov 15.

White matter changes in an untreated, newly diagnosed case of classical homocystinuria.

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1University of Virginia, Charlottesville, VA, USA.


The authors report the case of a 4-year-old boy who developed progressive unilateral weakness and developmental delays prior to his diagnosis of classical homocystinuria. Magnetic resonance imaging (MRI) of the brain demonstrated diffuse white matter changes, raising the concern for a secondary diagnosis causing leukoencephalopathy, since classical homocystinuria is not typically associated with these changes. Other inborn errors of the transsulfuration pathway have been reported as causing these changes. Once begun on therapy for his homocystinuria, his neurologic deficits resolved and his delays rapidly improved. Repeat MRI performed one year after instating therapy showed resolution of his white matter abnormalities. This case illustrates the need to consider homocystinuria and other amino acidopathies in the differential diagnosis of childhood white matter diseases and lends weight to the hypothesis that hypermethioninemia may induce white matter changes.


homocystinuria; hypermethioninemia; leukoencephalopathy; white matter abnormalities

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