Wilson disease

Case contributed by Md Imdadul Islam , 20 Sep 2021
Diagnosis certain
Changed by Henry Knipe, 15 Oct 2021

Updates to Case Attributes

Status changed from pending review to published (public).
Published At was set to .
Age changed from 26 years to 25 years.
Body was changed:

Symmetrical hyperintensityhyperintensities involving the caudate head, putamen, and thalamus waswere noted. On USGultrasound correlation, liver cirrhosis was observed.KF. Kayser-Fleischer ring visualized on examining the eye.

Sometimes the high signal intensity is noted in tegmentum with preservation of substantial nigra and red nucleus signal giving rise to the Faceface of the giant panda sign is seen, however, this sign is not present in our case.

Differential diagnoses for the MRI brain findings are Leigh disease and pantothenate kinase-associated neurodegeneration (PKAN)

  • -<p>Symmetrical hyperintensity involving the caudate head, putamen, and thalamus was noted. On USG correlation liver cirrhosis was observed.KF ring visualized on examining the eye.</p><p>Sometimes the high signal intensity is noted in tegmentum with preservation of substantial nigra and red nucleus signal giving rise to <a href="/articles/face-of-the-giant-panda-sign-midbrain">Face of the giant panda sign (midbrain)</a>. However, this sign is not present in our case.</p><p>Differential diagnoses are <a href="/articles/leigh-syndrome-3">Leigh disease</a> and <a href="/articles/pantothenate-kinase-associated-neurodegeneration">PKAN</a>. </p>
  • +<p>Symmetrical hyperintensities involving the caudate head, putamen, and thalamus were noted. On ultrasound correlation, liver cirrhosis was observed. Kayser-Fleischer ring visualized on examining the eye.</p><p>Sometimes the high signal intensity is noted in tegmentum with preservation of substantial nigra and red nucleus signal giving rise to the <a href="/articles/face-of-the-giant-panda-sign-midbrain">face of the giant panda sign</a> is seen, however, this sign is not present in our case.</p><p>Differential diagnoses for the MRI brain findings are <a href="/articles/leigh-syndrome-3">Leigh disease</a> and <a title="Pantothenate kinase-associated neurodegeneration (PKAN)" href="/articles/pantothenate-kinase-associated-neurodegeneration">pantothenate kinase-associated neurodegeneration (PKAN)</a>. </p>

References changed:

  • 2. Yu X, Gao S, Yang R, Han Y. MR Imaging of the Brain in Neurologic Wilson Disease. AJNR Am J Neuroradiol. 2019;40(1):178-83. <a href="https://doi.org/10.3174/ajnr.A5936">doi:10.3174/ajnr.A5936</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/30635331">Pubmed</a>
  • Yu X, Gao S, Yang R, Han Y. MR Imaging of the Brain in Neurologic Wilson Disease. AJNR Am J Neuroradiol. 2019;40(1):178-83. <a href="https://doi.org/10.3174/ajnr.a5936">doi:10.3174/ajnr.a5936</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/30635331">Pubmed</a>

Systems changed:

  • Hepatobiliary

Updates to Study Attributes

Findings was changed:

Symmetrical hyperintensity is noted in the bilateral caudate head, putamen, and thalamus on TT2/FLAIR showing no restriction on DWI/ADC.

Updates to Study Attributes

Findings was changed:

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