House S08EP19 “The C-Word”

via Fox.com

Just a few more episodes to count down to the season finale of House. The title of this week’s episode refers to [SPOILERS], and that plotline appears to be secondary to this evening’s story about Emily, a six year old girl with multiple preexisting conditions that must be solved, and how the team deals with Emily’s mother–who also happens to be a doctor, and is involved in Emily’s care.  As the team searches Emily’s home, they find something that appears to be relevant towards the case, and that the mother’s efforts to cure her daughter may not be beneficial.

And back Tuesday morning with the recap! I really enjoyed this episode. The “A” plot involving Emily was almost secondary, and the “B” plot dealing with Wilson’s cancer and how he and House were dealing with it moved up front, and both stories progressed nicely as the episode moved forward. Mild spoilers: Wilson has elected to go with an extremely aggressive approach with his stage 2 thyoma, and House acts as his enabler in the process. It will be sad to see that go when the series wraps up in three weeks.

Our peds patient Emily was born with the rare genetic disease ataxia telangiectasia, a progressive degeneracy that has a large list of signs and symptoms associated primarily with  abnormal cellular death. The disease is autosomal recessive, so that a patient must receive a mutated copy of the ATM gene from their mother and their father. Cellular death in the central nervous system results in neurological problems, such as decreased coordination of movement, decreased mental development, and seizures. Patients have a much lowered life expectancy, around 20 years of age as noted in this episode by Emily’s mother. There is no cure for AT, only supportive therapies to help resolve symptoms.  Well, not entirely true, as Emily’s mother has access to an experimental drug called LEX-2. This drug doesn’t appear to actually exist, but the writers of the show described it as an aminoglycoside analog, probably something resembling a nucleotide-one of the building blocks of DNA. The storyline indicated that this drug might somehow selectively correct the mutations in the ATM gene, and rescue the abnormal phenotype. Kind of a far-fetched scenario, but I will give the writers props for at least coming up with a hand-waving exercise that appeared to partly hold water.

Left Atrial Myxoma

Emily develops a number of other symptoms in this episode that indicate a secondary condition is also at work, including Reynauld’s phenomenon, jaundice, kidney and pulmonary problems. The team goes through a number of scenarios to diagnose, with finally settling on Lyme Disease right near the end. Lyme Disease however is a short-lived diagnosis, as the real culprit is atrial myxoma, a benign neoplasia of the heart tissue. Mild trauma, such as the carousel that Emily was riding at the episode outset, caused the myxoma to throw off fragments that led to circulatory blockages throughout her body, and producing all of the symptoms.

Within the confines of complications of ataxia telangiectasia, this cause does fit with other case reports, so it does feel possible. I was surprised that the heart defect was not picked up either by ultrasound, MRI, or even by listening to her lungs and heart with a stethoscope, all of which are appropriate means for identifying abnormalities of the heart. The treatment is surgery to remove the mass, and since the tumor was benign, the patient was cured of that problem. However, as noted in the end, she is still going to die from AT.

Next up on House: the two buddies decide on a Thelma and Louise-style roadtrip!

About ycpmicro

My name is David Singleton, and I am an Assistant Professor of Microbiology at York College of Pennsylvania. My main course is BIO230, a course taken by allied-health students at YCP. Views on this site are my own.

Posted on April 30, 2012, in House Party!. Bookmark the permalink. Leave a comment.

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