MR Imaging of the Brain in Neurologic Wilson Disease [PEDIATRICS]

BACKGROUND AND PURPOSE:

Neurologic Wilson disease is an inherited disease characterized by a copper metabolic disorder that causes damage to many organs, especially the brain. Few studies report the relationships between these neurologic symptoms and MR imaging of the brain. Therefore, we investigated the correlation of brain abnormalities in patients with neurologic Wilson disease with their clinical symptoms, age of onset, and lag time to diagnosis.

MATERIALS AND METHODS:

A cohort of 364 patients was recruited in China between January 2003 and December 2017. Age of onset, lag time until diagnosis, and neurologic symptoms were recorded, and cranial MR imaging was performed. Patients were divided into groups within each of these factors for correlation analysis with the MR imaging brain scans.

RESULTS:

Abnormal signals in the MR imaging brain scans were seen in all 364 cases. Affected regions included the putamen, pons, midbrain, and thalamus, while the medulla and occipital lobe were unaffected. The putamen was the most frequently damaged brain region in this study. With the age of onset younger than 10 years, cranial MR imaging scans showed only impairment in the putamen. Patients with a longer lag time before diagnosis were more likely to have impairment in the pons, midbrain, and cortex. Among neurologic symptoms of Wilson disease, torsion spasm is associated with the midbrain and cortex, and choreoathetosis is related to the caudate nucleus.

CONCLUSIONS:

Abnormalities in the putamen, pons, midbrain, and thalamus are part of the neuroimaging spectrum of Wilson disease. There is a significant correlation between the site of brain injury and diagnosis lag time.

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