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Hepatolenticular Degeneration, Wilson's disease

Kinsman KAK - MedPix (2013)

View Article: MedPix Image - MedPix Case

Affiliation: No Academic Affiliation

ABSTRACT

Diagnosis: Hepatolenticular Degeneration, Wilson's disease

History: This 21 y.o. man presents with several months of progressive apraxia, sialorrhea, decreased appetite, hesitant gait, and recent urinary incontinence. Previous history of Asperger’s and bipolar affective disorder.

Findings: MRI of the brain with and without contrast: There is abnormal diffusion restriction with associated T2 and FLAIR hyperintensity involving the bilateral thalami with extension into the midbrain and pons as well as the bilateral putamina in a symmetric manner. Additional diffusion restriction abnormality with associated T2 and FLAIR hyperintensity involves the cortex of the bilateral frontal lobes, left greater than right. Low gradient signal is seen in the putamina as well. There is no mass effect associated with this abnormal signal. No other abnormal parenchymal signal is identified. Diffuse parenchymal volume loss is also noted.

Ddx: • Wilson's disease • Leigh disease • Creutzfeldt Jakob disease • Carbon monoxide poisoning • Hypoxic-ischemic encephalopathy • PKAN/NBIA (Hallervorden-Spatz)

Dxhow: Liver biopsy

Exam: Alert and oriented, with a very hypophonic voice with short one word answers. 5/5 strength in all four extremities. Reflexes brisk in biceps, and knees. Sensation intact throughout. Finger to nose intact- end point tremor, mild dysmetria, heel to shin with mild dysmetria. Gait with two person assist was unsteady with short shuffling steps, but after a few steps, he remained unsteady but progressed towards a more normal stride. Labs were significant for: Ceruloplasmin <6 mg/dL Copper serum low 34 mcg/dL 24 hr urine copper level 182 mcg/day

No MeSH data available.


Here is a picture of a Giant Panda (courtesy of J. Patrick Fischer, WIKI Media) .  The midbrain in patients with Wilson's disease has been likened to this image - with the red nuclei dark and the cerebral peduncles also dark on the T2W MRI.
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MPX1018_synpic58761: Here is a picture of a Giant Panda (courtesy of J. Patrick Fischer, WIKI Media) . The midbrain in patients with Wilson's disease has been likened to this image - with the red nuclei dark and the cerebral peduncles also dark on the T2W MRI.


Hepatolenticular Degeneration, Wilson's disease

Kinsman KAK - MedPix (2013)

Here is a picture of a Giant Panda (courtesy of J. Patrick Fischer, WIKI Media) .  The midbrain in patients with Wilson's disease has been likened to this image - with the red nuclei dark and the cerebral peduncles also dark on the T2W MRI.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=MPX1018&req=5

MPX1018_synpic58761: Here is a picture of a Giant Panda (courtesy of J. Patrick Fischer, WIKI Media) . The midbrain in patients with Wilson's disease has been likened to this image - with the red nuclei dark and the cerebral peduncles also dark on the T2W MRI.

View Article: MedPix Image - MedPix Case

Affiliation: No Academic Affiliation

ABSTRACT

Diagnosis: Hepatolenticular Degeneration, Wilson's disease

History: This 21 y.o. man presents with several months of progressive apraxia, sialorrhea, decreased appetite, hesitant gait, and recent urinary incontinence. Previous history of Asperger’s and bipolar affective disorder.

Findings: MRI of the brain with and without contrast: There is abnormal diffusion restriction with associated T2 and FLAIR hyperintensity involving the bilateral thalami with extension into the midbrain and pons as well as the bilateral putamina in a symmetric manner. Additional diffusion restriction abnormality with associated T2 and FLAIR hyperintensity involves the cortex of the bilateral frontal lobes, left greater than right. Low gradient signal is seen in the putamina as well. There is no mass effect associated with this abnormal signal. No other abnormal parenchymal signal is identified. Diffuse parenchymal volume loss is also noted.

Ddx: • Wilson's disease • Leigh disease • Creutzfeldt Jakob disease • Carbon monoxide poisoning • Hypoxic-ischemic encephalopathy • PKAN/NBIA (Hallervorden-Spatz)

Dxhow: Liver biopsy

Exam: Alert and oriented, with a very hypophonic voice with short one word answers. 5/5 strength in all four extremities. Reflexes brisk in biceps, and knees. Sensation intact throughout. Finger to nose intact- end point tremor, mild dysmetria, heel to shin with mild dysmetria. Gait with two person assist was unsteady with short shuffling steps, but after a few steps, he remained unsteady but progressed towards a more normal stride. Labs were significant for: Ceruloplasmin <6 mg/dL Copper serum low 34 mcg/dL 24 hr urine copper level 182 mcg/day

No MeSH data available.