Does brain degeneration in Wilson disease involve not only copper but also iron accumulation?

作者：Skowronska Marta; Litwin Tomasz; Dziezyc Karolina; Wierzchowska Agata; Czlonkowska Anna^*

来源：Neurologia i Neurochirurgia Polska, 2013, 47(6): 542-546.

DOI：10.5114/ninp.2013.39071

• Wilson disease
• magnetic resonance imaging
• copper
• iron

Background and purpose: Wilson disease (WD) is an autosomal recessive inherited disorder of hepatic copper metabolism. Clinical manifestations of WD include neurologic, hepatic and psychiatric symptoms. Most WD patients with the neuropsychiatric form, and some with the hepatic and presymptomatic forms have both hypointense and hyperintense lesions in basal ganglia on T2-weighted magnetic resonance imaging (MRI), which can be iron and copper accumulation. It has been established that T2* and susceptibility-weighted imaging (SWI) are highly sensitive in demonstrating brain iron accumulation, showing decreased signal intensity Hypointense globus pallidus (GP) signal has been described on T2-, T2*-weighted images and on SWI as typical MRI lesion for patients with neurodegeneration with brain iron accumulation (NBIA). We investigated whether WD patients have MRI changes suggesting iron accumulation using T2*-weighted and VEN_BOLD SWI imaging protocols.
Material and methods: Standard MRI with additional sequences (T2-weighted and VEN_BOLD SWI) was performed in consecutively admitted, clinically stable, and treated patients.
Results: Twenty-eight patients entered the study. Hypointensity in the GP was observed on T2*-weighted images in 10 patients. Using the VEN_BOLD SWI technique, we found hypointense signal in GP in 20 patients.
Condusions: MRI data suggest not only copper but also iron accumulation in GP in WD patients.

• 出版日期2013-12