Isaacs’ syndrome. Sandifer’s syndrome

Isaacs’ syndrome – Isaac was a man, by the way, a real man – Isaacs’ is a variant of stiff-person syndrome. It’s not an axial disturbance, it’s an appendicular disturbance. Much more distal but it’s a variant on the theme of stiff-person syndrome.

I don’t want to talk about progressive encephalomyelitis with rigidity, I just don’t.

Hereditary dystonia, I do want to talk about that. Now when you see a dystonia, what’s weird about it is that it can be easily confused with spasticity and it can be easily confused with a kind of astasia abasia of complete ludicrous-ness that wastes your time. In a young person, in an Ashkenazi Jew for example, although it has also been described in the Philippines – it is a well-recognized disorder with an associated chromosomal abnormality. The association is 9, X-linked recessive. So it’s going to be in boys, for example. Or, this story. These dystonias are usually worse in the morning. They get better during the day. You would say, “Oh, this is functional.” If we sent out a private detective to follow him we would see that his dystonia did better during the course of the day when, interestingly enough, he is nowhere near the doctors office. Therefore, we would conclude that this is functional. Except that you had forgotten that the best way to be original is not to read, but Sagalla had described that kind of diurnal variation. Exquisite response to incredibly low dose of levodopa and furthermore, for the movement disorder specialist, if you have a dystonia in a young onset person and you don’t treat with levodopa at some point in an empirical trial, malpractice. It’s just not right. You give everybody a levodopa trial with early onset dystonia and you work up Wilson’s disease. That’s why I mentioned it.
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Tourette-ism. Look, Tourette-ism is a symptom. A symptom of many different things. What I’ve done for you is provided the TSSG criteria for Tourette’s disease, just so that you have seen them. The Tourette’s Syndrome Study Group criteria. I think people who have seen Tourette’s know the story. The criteria say onset before age 21. It’s always much younger. Don’t you find? I always find the onset of this, at least in some way, shape or form, before the age of like 10. Easily. And the story is that of a fluctuating tic course. To this day I still see Dick Cavett on television saying, “Does your child bark?” Remember that commercial? Maybe I’m just too old now. But “Does your child bark or grunt or …” but even if he does all those things, this is not Tourette’s. The point is that early on you have a tic and it goes away. It becomes something else. A different kind of tic. It can start with a blepharospasm, it can start with a little more complex stuff, that goes away. It varies over the course of time. Yes, there are associations with attention deficit states. Yes association with obsessive-compulsive disorders. Yes association with either simple tics or OCD or attention deficit in parents. Have the genetics been worked up, considering how robust that seems to be? No. Curious. Onset before the age of 11, variable tic course, exquisite response, if not to the high potency neuroleptic Haldol, then to pimozide. All these different things. Very controversial as to whether you treat with Haldol on the long term because long term exposure will increase the risk of tardive complications to the Haldol. Never mind, the underlying Tourette-ism complicated mets. But the criteria is what I think you should know about for the Boards.
Movement disorders
Sandifer’s syndrome. I mention it because it’s in the differential diagnosis of pediatric neurologic cases, and you will get them. Remember, in your orals you will spend at least one part with vignettes, pediatric vignettes. And the pediatric vignettes can hurt you. So have in your mind, because all of you will pass the written part, this is something that we will assume without question. When you go on to the orals be prepared for a discussion, be at least ready for, a discussion of ataxia in a kid. Floppy infant in a kid. Swallowing problems, or failure to thrive in a kid. Dementias in a kid. Have some kind of organizing principle, I don’t care how it is. I went with the verbal vomitus route. I said I will vomit up as much as I possibly can without getting myself into too much trouble until they stop me. Because if I’m talking, I know what I say as long as I am not fumbling. If I’m fumbling, I’m in deep S. And you know when you are fumbling. We’ve all had the experience of fumbling, of digging the hole deeper and deeper. If that happens, I don’t know but I know where I’d look it up. Sandifer’s syndrome I mention because it is a movement disorder that can sort of mimic reflux. It’s this prolonged head-tilt kind of thing. It’s in the differential diagnosis of reflux and gastrointestinal, failure to feed, failure to thrive-kind-of syndromes. So I mention it for kids, associated with gastrointestinal reflux.

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