Friday, October 2, 2009

Saturn

An 18 year old woman presents with a very weird chief complaint: drooling. She's also has inappropriate uncontrollable grinning and slurring of speech. She is brought in by her college roommate who is very concerned. "Even though she's smiling, I think she's depressed," the roommate says. "She never wants to do anything, seems to have no motivation, and sometimes, thinks people are after her. Is she paranoid? Her personality's changed. And I think her grades are a lot worse." On exam, you note a tremor, rigidity, and a clumsy gait.

Challenge: What's your diagnosis?

Image shown under Creative Commons Attribution 2.0 License.

2 comments:

Alex said...

wilson's

Craig Chen said...

you're on a roll!
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Saturn

This is Wilson's Disease or hepatolenticular degeneration, an autosomal recessive disorder of cellular copper export. Accumulation of copper from reduced biliary excretion occurs in the liver and brain. The inappropriate uncontrollable grin is also called risus sardonicus (though classically, this is tetanus or strychnine); the tremor is Parkinsonian. CSF copper and liver function tests are often elevated even in patients with predominantly neuropsychiatric symptoms. Liver manifestations include chronic hepatitis, cirrhosis, asymptomatic elevated liver function enzymes, portal hypertension, and acute liver failure. The image shows Kayser-Fleisher rings, brownish or gray-green rings of copper deposits in Descemet's membrane in the cornea close to the endothelial surface.

Sources: UpToDate; Wikipedia.