Hallervorden-Spatz disease

Now why you should be inclined, if you are not a movement disorders person, ever to worry yourselves about Hallervorden-Spatz disease I’ll never know. But it is associated with a very characteristic MR. It literally looks like there are tiger’s eyes looking right back at you. To see that, which they sometimes like to talk about, then you are dealing with none other than Hallervorden-Spatz disease. Which is characterized by a progressive, often spastic but often parkinsonian, autosomal recessive, progressive, onset in the second decade, all these little aspects you can talk about. But the reason why I bring it up is that it shows up in exams, that tiger eye pallor.

Diffuse Lewy body disease, we talked about. These Lewy bodies show up all over the place. You know the clinical syndrome, characterized by fluctuating level of consciousness, exquisite levodopa sensitivity, levodopa responsive parkinsonism early but then it becomes this exquisite psychoto-form sensitivity, visual hallucinations, fluctuating mental course from the get-go.

Fahr’s even shows up in these differential diagnoses, because Fahr’s often is asymptomatic. It’s just like there is some serious calcification going on there in the basal ganglia. It could be Fahr’s disease. Yeah. “Why did you get the CT scan?” “Well, actually I ordered a CT scan of the thorax but I appreciate that information.” By the way, the basal ganglia calcification generates a little bit of a differential diagnosis, which includes predominantly hypoparathyroidism. And other disturbances of calcium metabolism. So I don’t mean to blow it off completely.

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