Ann Lab Med.  2020 Nov;40(6):500-503. 10.3343/alm.2020.40.6.500.

Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing

• Kim MK
• Lee K
• Woo HY
• Park H
• Ro S
• Yoon WT
• Kwon MJ

• KMID: 2507798
• DOI: http://doi.org/10.3343/alm.2020.40.6.500

Figure

• 

  Fig. 1 T2-weighted magnetic resonance images of the patient. (A) The axial image does not show high signal intensity in the midbrain (red arrow). (B) The axial image does not show high signal intensity in the thalamus (red arrows) or putamen (red arrowheads).(C) The sagittal image shows cerebellar atrophy (yellow arrow).

• 

  Fig. 2 Sanger sequencing of the proband’s family revealed that his parents and sister are heterozygous for the variant detected in the proband.

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