Tuesday, June 23, 2009

Rare Diagnosis (2) - Fahr's Syndrome

Saw a really interesting case last week.

A middle-aged woman was brought by her husband who's worried that she might be suffering from dementia, although it seems a bit early onset for her age. Her behaviour and personality seems to be changing over the past few months, and frequent falls were also noted.

Examination revealed Parkinsonian features: Mask-like facial appearance, shuffling gait with postural instability and cog-wheel rigidity bilaterally. But besides that, she's also noted to have dysarthria, and mild choreoathetoid movement of the upper limbs. Mini-mental state examination score was suggestive of dementia, too.

A CT Brain was done for her and as follows:

Bilateral, symmetrical hyperdense lesions over internal capsule, basal ganglia and cerebrum. Impression is generalized extensive cerebral calcification.

What do you think it could be?

(Answer's in comment)

Related post:
Rare Diagnosis (1)


Darren Lee said...

We think that she could be having Fahr's Syndrome. It's really rare and I have to say that it's my first time seeing such an extensive calcification of brain.

(Info extracted from NINDS - National Ins. of neuro disorders on Fahr's syndrome)

"Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria, spasticity and spastic paralysis, eye impairments, and athetosis.
Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease.

These symptoms generally occur later in the development of the disease. More common symptoms include dystonia and chorea. Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence."

Patient was subsequently referred to neurologist. I'm just wondering are they gonna do a case write-up for it?;)

Zzzyun said...

wow this is certainly very rare! never hear before leh!! who diagnosed it? cool! haha

Anonymous said...

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- Thomas

Darren Lee said...

Thanks Thomas;)

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