Season 7
Episode 17 - Fall From Grace
Brief Plot Summary
After launching a model rocket, two kids discover a homeless man who has caught on fire from the rocket flames. He presents with an interesting case of dysosmia; he thinks his right arm's burned flesh smelled like licorice. They do a neurological checkup, an odor identification test, and put him on prednisone. He then suffers a GI bleed causing abdominal pain. They treat for possible overdose of vitamin A (he is injecting supplements) and also x-ray for a GI obstruction. They find 13 masses along the wall of his colon which turn out to be small pieces of bone. He also develops tunnel vision. Chase believes he might have a meningioma that's pressing on his optic nerve and they do an MRI and find two dark spots in his parietal cortex which House believes are a sign of schizophrenia. The patient suddenly feels like his left arm is on fire, which the team suspects might just be a delusion. He now develops cerebellar ataxia, which along with other symptoms indicates Parkinson's. His heart then begins to fail as it dilates. House then realizes the patient is eating healthy (mostly vegetarian meals) since he arrived at the hospital, which leads him to conclude it is Refsum disease.
After launching a model rocket, two kids discover a homeless man who has caught on fire from the rocket flames. He presents with an interesting case of dysosmia; he thinks his right arm's burned flesh smelled like licorice. They do a neurological checkup, an odor identification test, and put him on prednisone. He then suffers a GI bleed causing abdominal pain. They treat for possible overdose of vitamin A (he is injecting supplements) and also x-ray for a GI obstruction. They find 13 masses along the wall of his colon which turn out to be small pieces of bone. He also develops tunnel vision. Chase believes he might have a meningioma that's pressing on his optic nerve and they do an MRI and find two dark spots in his parietal cortex which House believes are a sign of schizophrenia. The patient suddenly feels like his left arm is on fire, which the team suspects might just be a delusion. He now develops cerebellar ataxia, which along with other symptoms indicates Parkinson's. His heart then begins to fail as it dilates. House then realizes the patient is eating healthy (mostly vegetarian meals) since he arrived at the hospital, which leads him to conclude it is Refsum disease.
Diagnosed Disease: Refsum Disease - Autosomal recessive neurologic disorder that occurs from a deficiency in phytanic acid oxidase enzyme that is responsible for phytanic acid metabolism. Phytanic acid is a fatty acid not produced in the body and found in dairy products and some fish. However, it is also created from the break down of chlorophyll in the body.
SymptomsAtaxia, tunnel vision, poor night vision, and peripheral neuropathy
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CausesMutations in the genes on short arm of chromosome 10 (10pter-p11.2) and/or the long arm of chromosome 6 (6q22-q24) cause deficiency of phytanic acid oxidase enzyme, leading to accumulation of phytanic acid in cells which is toxic.
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TestsGenetic test will reveal the condition as well as the presence of phytanic acid in blood and/or urine of the patient.
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Treatment/CureThere is no cure for the condition, but maintaining a diet low in phytanic acid can help. Additionally, plasmapheresis can be done to remove excess phytanic acid from the blood stream.
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Source Links: NORD
Episode 18 - The Dig
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Episode 19 -
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Episode 20 -
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