Like Father, Like Son
Kyle is a man in his 20s with a history of mild seizures who presents with intermittent akinotopsia (loss of motion vision) and generalized myoclonic seizure after exposure to flashing lights. He says that he has gone through an extensive work-up for seizures which was unremarkable. During questioning, an underlying history of alcohol abuse is uncovered, and Kyle's becomes obtunded from liver failure.
"Ragged red fiber disease" was a name used to describe a set of mitochondrial myopathies ("myopathy" = muscle problem) in 1972 because muscle fibers with enough abnormal mitochondria were colored red when viewed under a microscope after modified trichrome staining. Each human cell is made up of a number of parts. Mitochondria are one of those parts. What makes mitochondria different from every other part of the cell is that evolutionarily, it's thought that mitochondria were once indendepent organisms. Why? Well, for one, they actually have their own DNA separate from the DNA found in human cells.
Secondly, they have two membrane layers surrounding them, one thought to be derived from the original organism and one from the human cell, thereby forming a nice friendly "symbiotic" relationship. Seeing as how every single human cell have mitochondria and mitochondria serve as the main energy powerhouses of the cell, if mitochondrial DNA gets messed up, it means that bad, bad things can happen. Also, because sperm mitochondria are destroyed when a sperm first meets an egg, the vast majority of an embyro's mitochondria come from the egg, and thus from the mother. In other words, if a woman has a mitochondrial disease, all her kids will have that disease.
As you can imagine, more than one thing can go wrong with mitochondrial DNA. For that reason, the word "ragged red fiber disease" actually refers to a whole group of diseases. The single most common sign of all of the mitochondrial myopathies is the progressive weakening in the ability to move your eyes without seeing double. I guess if you really stretch it, this could manifest as the loss of motion vision, just like Kyle had. Fine. So far so good. Now we need to account for the seizures. If we're going to stick with the "ragged red fiber disease" theory, there are two types of mitochondrial myopathies that initially present with seizures: myoclonic epilepsy with ragged red fibers (MERRF) and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). At one point, Kyle's father refers to him dropping things. Because MERRF is classically associated with limb-girdle weakness, we'll assume that Kyle has MERRF. Kyle's liver failure and cardiomyopathy are both commonly caused by alcohol abuse, so we'll consider these things accounted for.
The Diagnosis
"Ragged red fiber.. it's an inherited condition. Dropping things, muscle weakness, poor night vision... these people seem uncoordinated, accident-prone, careless... it's transmitted in mitochondrial DNA so it only passes through the mother. Your wife's family weren't drunks. They were sick."Working Backwards
I'm not going to criticize the randomness of this diagnosis. Why? Because this season, that's become the norm with all of House's diagnoses. You might even argue that there's no proof that House is even right in this case because no one ever does run the DNA test for it. If you're willing just accept that House is right and to work backwards, join in on the ride. If you're frustrated with House's diagnosis, go to the last two paragraphs of this post. Oh, did I say I wouldn't criticize House? I lied. Everybody lies. Now read on."Ragged red fiber disease" was a name used to describe a set of mitochondrial myopathies ("myopathy" = muscle problem) in 1972 because muscle fibers with enough abnormal mitochondria were colored red when viewed under a microscope after modified trichrome staining. Each human cell is made up of a number of parts. Mitochondria are one of those parts. What makes mitochondria different from every other part of the cell is that evolutionarily, it's thought that mitochondria were once indendepent organisms. Why? Well, for one, they actually have their own DNA separate from the DNA found in human cells.
Secondly, they have two membrane layers surrounding them, one thought to be derived from the original organism and one from the human cell, thereby forming a nice friendly "symbiotic" relationship. Seeing as how every single human cell have mitochondria and mitochondria serve as the main energy powerhouses of the cell, if mitochondrial DNA gets messed up, it means that bad, bad things can happen. Also, because sperm mitochondria are destroyed when a sperm first meets an egg, the vast majority of an embyro's mitochondria come from the egg, and thus from the mother. In other words, if a woman has a mitochondrial disease, all her kids will have that disease.As you can imagine, more than one thing can go wrong with mitochondrial DNA. For that reason, the word "ragged red fiber disease" actually refers to a whole group of diseases. The single most common sign of all of the mitochondrial myopathies is the progressive weakening in the ability to move your eyes without seeing double. I guess if you really stretch it, this could manifest as the loss of motion vision, just like Kyle had. Fine. So far so good. Now we need to account for the seizures. If we're going to stick with the "ragged red fiber disease" theory, there are two types of mitochondrial myopathies that initially present with seizures: myoclonic epilepsy with ragged red fibers (MERRF) and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). At one point, Kyle's father refers to him dropping things. Because MERRF is classically associated with limb-girdle weakness, we'll assume that Kyle has MERRF. Kyle's liver failure and cardiomyopathy are both commonly caused by alcohol abuse, so we'll consider these things accounted for.
The Flaw
In one scene, when Wilson, House, and Gabriel (Kyle's father) are in the hotel room, Gabriel says "Wilson, toss me a soda." Wilson throws it across the room, it hits Gabriel's hand, and it falls to the ground. House looks at Gabriel with inquisitive eyes with that "I just made the diagnosis" look. It appears as though Gabriel and Kyle both have a problem with seeing moving objects. In fact, early in the episode, House says that Kyle and Gabriel have similar EEG findings. If ragged red fiber disease is inherited from a person's mother, why would Kyle's dad have signs of the same disease that Kyle has?The Solution
Kyle's father Gabriel must have slept with his own mother to create Kyle. Therefore, it's actually Gabriel and Kyle who have ragged red fiber disease. This means that once the mother's side of the family found out who Kyle's real mother was, they became a bunch of drunks.
posted by k-deep at 11:30 PM
20 Comments:
Fascinating stuff about the mitochondria. I had no idea they have their own DNA. Cool.
Anyway, my comment's really about the "flaw" in the episode: When Coma Guy fails to catch the soda, I thought that was signaling the fact that his L-DOPA was wearing off (or his body was countering its effects) and he was 'slowly' lapsing back into his vegitative state. Time was running out, etc.
However, I don't really know if that's how L-DOPA works. You're the one in med school. ;-)
You could certainly be right that the dropping of the soda can was meant to symbolize Gabriel's re-entry into the coma state. It still doesn't account for the similar changes that House commented on when he was comparing the father and son's EEGs, which was when House first said that the disease may be an inherited one.
I guess i can somehow agree with that, but Gabreil AND his wife could have both had it, making Kyle legit.............
Hey men this is fantastic!I am on last year of medical school in Serbia,Belgrade(last for six years),and I am big House fan!!!When I find out your site I was soo happy,wow now I can read everything that I was allways interested in about House and his diff.diagnosis!!Thanks!
I think you're forgetting that Coma Guy caught Wilson's keys quite nicely earlier in the episode, "proving" that he was fit to drive the car.
The dropped soda can was meant to show the limited time was running out. No more time for dancing around the truth, we need the nitty gritty.
Any earlier comparisons between father and son's symptoms are red herrings. We get enough herrings in a season of House to open up a canning factory. :)
I agree with the previous bloggers that when the coma guy dropped the soda it was a sign that the drug cocktail given to wake him was wearing off. what i would like to know was how did smoke inhalation result in coma guy being in a persistant vegetative state in the first place. Was it psychogenic because he knew he failed to save his wife?
Just saw it on Re-run, so my comment is far old.
But I agree that it seemed like the father's time was running out...
And I always just thought that House is like a Gifted and Talented Kid...His brain is wired up differently compared to other people and so he's capable of making leaps of logic that seem magical.
could you held me?
i have red the comments
and the blog
and i agree that the father
dropping the car of soda
was a sign that the drugs were
wearing off.
however, at the beginning of the
episode the term Akinatopsia
was used to describe
the boys symptoms down in the morgue
then, as time progressed
it became
Ragged Red Fiber Myopathy
is there any difference
or are they one in the same?
thanx, dave
Not sure how this blog is being used but would just like some input from anyone who might offer me some information or guidance.
I am a 69 year old female. I have a healthy appearance and can rise to the occasion as needed but find it stressful. However, I experience clumsiness in dropping items, bumping into things, tripping, falling. Have not suffered any serions problems from this except....when shopping and continually dropping items I'm looking at, it becomes very stressful and tiring. I'm constantly knocking things over and go through spells of breaking glass items.
My typing has also become difficult as I find myself making uaccountable errors.
I am experiencing major memory issues. Not just on a daily basis but on a moment to moment and second to second basis. Major difficulty with focus. I'm aware of every movement and sound around me.
I hear sentences differently from what is spoken. I have difficulty in looking at pictures in magazines, etc. as they take on reverse forms and it takes me a while to figure out exactly what the picture is actually composed of.
I also experience sharp pains in various parts of legs, feet and hands.
My driving had deteriorated. Thank goodness nothing serious has happened but lots of bump-ups and scrapes and damage to my car. I realize that it is all the result of not being able to focus.
I am seeing a neurologist and have done the cognitive testing and had an MRI of the brain. His diagnosis is 'small vessel disease' normal aging, and brain shrinkage.
I am receiving various meds for all of this and following the above mentioned tests have made some med changes and adjustments.
Does any of this sound like MERRF?
My mother died at age 89 following a 12 year bout with Alzheimer's but did not experience all the other symptoms I've mentioned. My father died of a stroke at age 85.
Your comments woudl be welcome.
dear anonymous,
this is not a real medical website
it is a website based on the television show
House. i am not a doctor
i must say that i am not that knowledgable
in symptoms and diagnosis either
however from what you are saying
i would admit that these symptoms sound
like they are the usualy symtoms
of "getting older". the body begins to shrink
focuzing becomes difficult
you may have temperature tenderness
meaning that cold cups of water
feel ice cold and warm bath water
feels boiling hot
also, eyesight at night is greatly depreciated
as is the same in lesser amount during the day
that accounts for most of your symptoms
as for dying. both your parents lived
to almost ninety
this is a ffeat that is not too common
around the world
as i can see
you have atleast twenty years left to go
i would have to say take a vacation
the reason u may be stressing over picking
up a dropped object is because you are annoyed
that you keep dropping objects.
go climb a mountain
go for a canoeing trip
or bike in a marathon
if none of these are possible
choose a huge goal to complete
and finish it
by any means necessary
one huge thing to do
that gives a person quite a bit of
admiration for themselves
is painting a well lit room
it is a difficult task but
it is one that gives a person
a feeling of self accomplishment.
stop fretting, you've got plenty
of time left
don't give up, have fun, as often as possible.
post another comment
if you want me to resond to it
id love to talk
All commetary about the the L dopa and argument concerning ragged red fiber's origen aside, The true turning point of this case was the returning clumsiness of the fathers vegetative state, being matched to the clumsiness, (translation muscle weakness) and the after dark accident rate of the family members on the mothers side. As in most House episodes the outcome of the case swings on the accidental insight supplied by a surprise or even expected reaction, word or idea tht presents itself in an entirely unrelated context. Dropping the soda that night made him think of the accidents endured by the rest of his family members and begin to ask as to their occurence according to time of day. This led him to the theory ( not diagnosis as it was yet untested) of ragged red fiber and the ordering of the diagnotic testing.
Wow that was really interesting.
But I don't think the dropping the soda can means Gabriel also suffers from MERRF, because earlier in the episode House tosses him a set of car keys and he catches it just fine.
The whole idea that he woke from a 10 year comma is iffy because his muscled would have deteriorated to nothing. You don't just wake up from a comma and walk away. Also the soda can drop was to show that his drugs were wearing off.
Paul, he wasn't in a coma
he was in a vegitative state
the difference is that in a vegetative state
the muscles don't artrophe
the brain still sends signals
for them to move
he would have been weaker
and in no condition to lift anything heavy
but his muscles would have allowed him
to move around atleast
Like what the other bloggers said, the dropping of the soda was the result of the L-DOPA wearing off, which decreased his ability to control his movement.
The reason House woke the father in the first place was because they had no past medical history of the boy's family. It's can be very helpful to differentially diagnosis with a past family history, instead of running a million tests to rule in or rule out a diagnoses.
You know you can get Mitochondrial disease not just from the mother but the father? 80% of cases come from nuclear DNA and 20% comes fromthe mother. This was told at the last United Mitochondrial Disease Foundation conference in Washington. Just an FYI.... so both the mother and father can be carriers of a mutation.
haha...I just saw that episode. I love house.
hahaha...I just saw that episode of House. I love House.
a small comment to the lady of69 years ,are you taking any medication in the sense of vitamin"s? or just the opposite? are you lacking vitamins?
to the 69yr female;have u been tested for m.s?it has many symptoms ranging from eye probs to muscle probs.just a thought
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