Jackson Smith was the patient with genetic mosaicism in the episode The Softer Side who collapsed after a basketball game. He is portrayed by actor Dominic Scott Kay.
Medical History[]
Jackson was born with both male and female DNA and ambiguous genitalia. His parents decided to raise him as a male and surgery was performed to remove female characteristics from his genital region. His parents did not disclose his condition to him, but gave him testosterone pills which he was told were vitamins.
Case History[]
Jackson was playing basketball when he clutched his stomach and collapsed on the floor unconscious. He was not in any obvious physical distress before he collapsed. He was taken to the emergency room of Princeton-Plainsboro Teaching Hospital where he complained of persistent pain in his pelvis. Dr. Cuddy brought the case to Dr. House and informed him that the parents had not disclosed the genetic mosaicism to Jackson.
Dr. House brought the file to his team. Dr. Foreman thought it might be dehydration, but Dr. Kutner noted that Jackson had been given fluids. Dr. Foreman argued that chronic dehydration wouldn't go away that quickly. Dr. Taub thought it was more likely to be a condition related to his intersex disorder, such as congenital adrenal hyperplasia or Persistent Mullerian duct syndrome. However, Dr. Kutner noted that Jackson's genome contained both an XX and XY chromosome and those conditions only happened with different genome configurations. Dr. Hadley thought it might be a blind uterus and wanted to give the patient a MRI with contrast. However, Dr. Foreman thought it was more likely that other doctors would have seen that and thought it was complications from his genital surgery. Dr. House agreed that examining the urethra was the best idea. However, when the parents thought he had a blind uterus as well and asked for a MRI, Dr. House agreed.
Dr. Hadley and Dr. Taub performed the MRI. However, there was no blind uterus. They then prepared to inject saline into his bladder through a catheter to look for narrow spots in his urethra with a scope. However, Jackson soon complained of tightness in his chest and that he couldn't breathe. Dr. Taub withdrew the scope. Dr. Hadley noted muffled heart sounds and a distended jugular vein indicating a pericardial effusion. Dr. Hadley forced a needle into the pericardium to withdraw fluid. They managed to get his heart beating in a normal rhythm again.
The mixture of heart and pelvis problems didn't fit with syndromes related to his mosaicism. Dr. Foreman thought it might be drugs, toxins or an infection. Dr. Hadley thought that the testosterone he was taking set off an autoimmune disease like polyarteritis or lupus. Dr. House ordered steroids and progesterone to block the effects of the testosterone. The parents agreed to the treatment, but resisted telling him about his mosaicism.
Dr. Hadley talked to Jackson, who said he didn't much like basketball. He only joined the team because his parents insisted he either take that or hockey. He actually wanted to take dance lessons. Dr. Hadley noted Jackson's palm was bright red, which ruled out an autoimmune disease.
Dr. Hadley did lab tests which showed the kidneys and liver were beginning to fail. Dr. Foreman thought it might be amyloidosis with systemic involvement, but his protein levels were normal. Dr. Hadley thought that Jackson might be self-medicating clinical depression with drugs and alcohol. Dr. House ordered an environmental scan of his school and home.
Dr. Hadley found a poem that appeared to indicate that Jackson was depressed and suicidal. However, Dr. House didn't think it was relevant to Jackson's current condition as they found no drugs or alcohol. However, at the school, Dr. Taub found toxoplasmosis on his water bottle. Dr. Hadley went to start him on pyrimethamine. She then went to show the poem to the parents. They wanted Jackson to see a therapist, but Dr. Hadley thought it would be a better idea if they talked to him. However, his mother didn't think he was ready. They decided to start him on testosterone again.
Dr. Hadley restarted the testosterone, but this time she told Jackson that it wasn't vitamins and that he should ask his parents about it. The parents were embarrassed by the questions Jackson asked and went to Dr. Cuddy to have Dr. Hadley removed from the case. Dr. Hadley defended herself by saying she didn't disclose Jackson's condition to him and that she was tired of lying on their behalf. Dr. Cuddy said it was up to Dr. House. The father wanted to tell Jackson, but the mother was still opposed. They went to see Jackson. Dr. Hadley told Dr. Cuddy she would stay away from Jackson, but Dr. Cuddy told her that she might be the only person Jackson trusted and she had better be there for him.
The father broke the news to Jackson, who was angry they hadn't told him before. He told them to get out of the room.
Soon after, Dr. House resigned from the hospital over other issues. Dr. Foreman was put in charge of the case.
Dr. Hadley told Jackson he would have to talk to his parents again sometime, but he had no intention of doing so. He then admitted to Dr. Hadley that he was attracted to other boys. He thought it would make more sense if he were a girl. It would also explain why he preferred dancing to basketball. Dr. Hadley then told Jackson that she had found the poem, but he explained it was a school project and he was supposed to write in a style resembling Sylvia Plath. He wasn't suicidal, just sad sometimes. Jackson then complained of nausea and started vomiting blood.
Jackson was given surgery which found a gastric fistula caused by necrotizing pancreatitis. Dr. Taub pointed out the disease had to be systemic. Dr. Hadley thought it might be Zollinger-Ellison syndrome, but Dr. Taub thought it was systemic scleroderma. Dr. Foreman ordered proton-pump inhibitors. If the patient improved, that would confirm Allinger-Ellison.
Dr. Foreman confronted Dr. Hadley for arguing that Allinger-Ellison was a better fit. He thought it was scleroderma, and asked Dr. Hadley if the fact that she broke up the family was influencing her judgment in rejecting a potentially fatal disease. Dr. Foreman assured her that the family break up was not her fault, even though she thought it was. Dr. Hadley was still upset that she convinced the parents that Jackson was potentially suicidal when he was merely as confused as any teenager.
Jackson didn't improved on inhibitors and Dr. Taub broke the news to the parents that he had scleroderma. They planned to start him on anti-inflammatory drugs. The mother confronted Dr. Hadley about the fact she wasn't allowed to see Jackson. Dr. Hadley tried to apologize, but the mother wouldn't listen to her. Dr. Cuddy came by and told the mother to at least try to talk to Jackson. Dr. Hadley tried to thank Dr. Cuddy, but she said she was doing it for the patient. Jackson reconciled with his parents. He also responded well to the anti-inflammatories and his AST levels started to drop, reaching 185. Dr. Hadley was suspicious - the drop seemed to be too fast. After ruling out the antibiotics and proton-pump inhibitors as the cause as he had been off them too long, they realized he was still on testosterone. That wouldn't affect liver function, but it would improve kidney function as long as the patient didn't have damage from scleroderma. They realized he couldn't have it.
Dr. Cuddy managed to talk Dr. House into returning to the hospital, and he took over the case again. They informed him that the patient didn't have scleroderma and told him of the other diagnoses they ruled out in his absence. Dr. House asked if Jackson drank energy drinks. He had suddenly realized all of Jackson's symptoms could be caused by an adverse reaction to the MRI contrast material. Energy drinks affect kidney function and, if he was dehydrated, the kidneys would not have been functioning well when he arrived at the hospital. Had they simply given him more time, he would have responded to fluids. However, since his kidneys were weak, the contrast material they gave him for the MRI circulated in his body for hours instead of quickly being eliminated by the overstressed kidneys. The contrast negatively affected his heart, liver and pancreas. Jackson needed a few weeks of dialysis, but would recover.
Dr. House admonished himself for doing the MRI that he felt was unnecessary, which resulted in the patient's illness.
A Reflection of House[]
Jackson has trust issues with his parents. He also has issues relating to his peers.
Reaching the Diagnosis[]
Dehydration was on the table right away as it can cause pelvic pain, but it was less likely as Jackson had received fluids on admission. Taub suggests it could be congenital adrenal hyperplasia or persistent Mullerian duct syndrome, which are both caused by genetic abnormalities. However, Kutner quite rightly points out they only occur in unambiguously male or female patients as someone with four sex chromosomes will never be missing the genes involved. Thirteen suggests a blind uterus, which is also common in patients with ambiguous sexual characteristics. Foreman doesn't believe that would be missed by every examination to date and believes it's more likely a complication of surgery on his genitals.
House believes a surgical complication is more likely and orders an examination of the penis. However, when the parents talk to him about the blind uterus, he agrees to perform a MRI. However, the MRI finds no blind uterus.
House returns to Foreman's idea and Thirteen prepares to examine Jackson's urethra However, during the procedure, Jackson starts to feel pressure in his chest, then complaints about having difficulty breathing. Thirteen notes that Jackson's jugular vein is distended, and his heart sounds are muffled, She quickly concludes Jackson is suffering from a pericardial effusion, and she drains it.
As heart problems seem unrelated to his genetic condition, Foreman turns to toxins. However, Thirteen notes that the testosterone Jackson has been given could cause an autoimmune condition, which would explain the pelvic pain and the pericardial effusion.House agrees and orders steroids to treat the autoimmune condition and Finasteride to block the effect of the testosterone.
However, Jackson develops red palms, which rules out an autoimmune condition and puts liver and kidney failure on the table. Tests confirm dysfunction in both organs. Foreman suggests amyloidosis, but Thirteen points out the protein levels are normal. She suggests drugs or alcohol. House orders an environmental scan.
They find no drugs or alcohol, but do find a poem that expresses suicidal thoughts. However, Taub finds toxoplasmosis on Jackson's water bottle. House agrees to treat him for the latter.
However, shortly thereafter, Jackson starts vomiting blood. Surgery indicated a gastric fistula with necrotizing pancreatitis. This points to a systemic problem such as Zollinger-Ellison syndrome or scleroderma. Foreman agrees with Thirteen that Zollinger-Ellison is a better fit and orders proton-pump inhibitors. However, if it's scleroderma, it's terminal in any case.
However, the proton pump inhibitors don't help. They turn back to scleroderma and start him on anti-inflammatory drugs, hoping to slow the progression of the disease.
Jackson's condition improves quickly; too quickly for it to be scleroderma and they figure that the testosterone is assisting his kidney function.
When House returns, he notices in the file that Jackson likes drinking energy drinks. He realizes that when Jackson was admitted, the energy drinks slowed down the effect of the fluids, meaning he needed more time to rehydrate than normal. With his kidneys being strained, they could not filter out the contrast material they gave him for the MRI, which caused the systemic problems as it continued to circulate in the body. He needed dialysis, but he would recover.
Explaining the Medicine[]
- Genetic mosaicism describes a condition where the body has two groups of genetically dissimilar cells. Generally, one set of cells has the normal 46 chromosomes (23 pairs) but the other set has 47 chromosomes. It is generally caused very early in fetal development. In a normal cell division, the 46 chromosomes split into 92, then each chromosome pair is separated into one of the new cells. Mosaicism starts when this process results in one cell getting an extra chromosome. In many cases, this cell line will die off to be replaced by normal cells, but in rare cases it starts dividing as well, forming cells with 47 chromosomes. It can manifest in many different ways, and some of those can lead to ambiguous genitalia.
- A blind uterus is an underdeveloped uterus that does not connect to the rest of the reproductive system.
- Contrast complications are very common in dehydrated patients. In fact, this is a massive goof on House's part. As a nephrologist, he should be aware that contrast is contraindicated if the patient is dehydrated.
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Naegleria | Jackson Smith | Carl Reiner |
Season 5 | |||||
#01 | "Dying Changes Everything" | #09 | "Last Resort" | #17 | "The Social Contract" |
#02 | "Not Cancer" | #10 | "Let Them Eat Cake" | #18 | "Here Kitty" |
#03 | "Adverse Events" | #11 | "Joy to the World" | #19 | "Locked In" |
#04 | "Birthmarks" | #12 | "Painless" | #20 | "Simple Explanation" |
#05 | "Lucky Thirteen" | #13 | "Big Baby" | #21 | "Saviors" |
#06 | "Joy" | #14 | "The Greater Good" | #22 | "House Divided" |
#07 | "The Itch" | #15 | "Unfaithful" | #23 | "Under My Skin" |
#08 | "Emancipation" | #16 | "The Softer Side" | #24 | "Both Sides Now" |