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

• Published in: Journal of child neurology Vol. 29; no. 1; p. 88
• Main Authors: Brenton, J Nicholas, Matsumoto, Julie A, Rust, Robert S, Wilson, William G
• Format: Journal Article
• Language: English
• Published: United States 01.01.2014
• Subjects: Child, Preschool; Diffusion Magnetic Resonance Imaging; Homocystinuria - complications; Homocystinuria - diagnosis; Humans; Leukoencephalopathies - etiology; Male; leukoencephalopathy; hypermethioninemia; homocystinuria; white matter abnormalities

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 diag...