Abigail Ralphean

Abigail Ralphean is the short-statured patient in the episode Merry Little Christmas. She is portrayed by actress Kacie Borrowman.
==Medical History==
The patient has genetic cartilage hair hypoplasia dwarfism, inherited from her mother, who also has the condition. She is in the 1st percentile of height for persons her age, under 4'0" tall, and more than two standard deviations below average height. Her father is of average height.
==Case History==
Dr. Cuddy was doing a follow up with Abigail after her surgery to correct a collapsed lung. Abigail was healing well. Dr. House dropped by to see Dr. Cuddy about a personal matter and became intrigued by Abigail's scar and he figured out it was to correct the collapsed lung. He noted there was no sign of trauma and her PPD for tuberculosis was negative. Dr. Cuddy told Dr. House it was just a bleb, but he noted that isn't really a diagnosis. She told the patient's mother that many of these cases were idiopathic, but Dr. House told the mother that this just meant that Dr. Cuddy had no idea what caused the collapsed lung. Dr. House asked to take her case.
Dr. House brought the case to his team. He told them that Abigail had an unexplained lung collapse combined with anemia. Dr. Chase noted that tuberculosis had already been ruled out. Dr. Cameron remembered that cartilage hair hypoplasia can lead to a person being immunocompromised. If this were the case, the negative PPD test was irrelevant because the test depends on the immune system recognizing tuberculosis. Dr. House proposed a gallium scan.
Dr. Cameron prepared Abigail for the test and explained that it involved the use of a radioactive isotope. However, the gallium scan showed no bright spots, which appeared to rule out an infection. However, Dr. House thought the entire scan was too bright to be normal - only the liver was darker than average. Dr. Cameron just thought the image was slightly overexposed. Dr. Foreman suggested lung cancer - a tumor caused a structural abnormality which caused the lung to collapse. Dr. House still thought the problem was with the liver, but his team disagreed with him. He tried to order an ultrasound, but that that moment Dr. Cuddy removed him as attending and suspended his hospital privileges due to another matter. Dr. Cuddy took over as attending and ordered an MRI of Abigail's lungs.
House's team performed the MRI and found no masses in Abigail's lungs. However, when she came out of the MRI, she started vomitting up blood. This would indicate liver failure and an endoscopy confirmed variceal bleeding was the cause of the vomiting. The blood tests also confirmed liver failure. Dr. Foreman noted that schistosomiasis could cause both liver failure and a collapsed lung, but there was no eosinophilia. Dr. Wilson suggested a hepatoma, but Dr. Cameron insisted she was too young for liver cancer and suggested cirrhosis instead. Dr. Foreman noted hepatitis could cause cirrhosis, but Dr. Chase thought drugs and alcohol were more likely. Dr. Foreman went to do a liver biopsy while Dr. Chase volunteered to search the home.
Dr. Foreman sought out Dr. House for a consult, but he resisted helping. He told Dr. House that they suspected cirrhosis, but the biopsy was positive for sclerosing cholangitis. There was no increase in alkaline phosphatase. In return for a favor, Dr. House agreed to help him and told him that the bright gallium scan showed a global disease and it would probably spread until they treated it. He surmised it would spread through the biliary tree and strike her pancreas next.
Dr. Chase found olive oil in the medicine cabinet, which is often used to treat ear infections. Dr. Cameron noted cartilage hair hypoplasia dwarfs often suffer from ear infections. Dr. Chase also found laxatives, but Dr. Cameron pointed out CHH patients also have intestinal problems. As Dr. Chase was telling them about the glucosamine used to treat chronic joint pain, Dr. Cuddy asked who had ordered an alpha 1-antitrypsin deficiency test. Dr. Foreman admitted he thought that it was the patient's pancreas and Dr. Wilson realized he had been speaking to Dr. House. However, the antitrypsin test was negative, showing no problems with the pancreas. Dr. Cuddy told Dr. Foreman to stop listening to Dr. House. However, a biopsy indicated severe inflammation of the bile duct. Dr. Cuddy ordered an ERCP to check the liver for bile duct cancer. Dr. Foreman argued his negative test didn't mean the pancreas would fail, but Dr. Wilson pointed out that Dr. House was probably just trying to manipulate him.
Dr. Foreman and Dr. Wilson prepared Abigail for the ERCP. However, Abigail became unconscious even before they sedated her. Dr. Foreman checked her airway and her breath smelled fruity indicating diabetic ketoacidosis. Dr. Foreman realized her pancreas had failed an ordered an intravenous insulin drip. He asked Dr. Wilson to put Dr. House back on the case.
Dr. Cuddy visited Dr. House at home and told him he was right about the patient's pancreas failing and that she was not producing insulin on her own. However, Dr. House refused to return to the case on Dr. Cuddy's terms.
Dr. Cuddy realized Abigail had a global systemic illness which was now affecting her lungs, liver and pancreas. Dr. Chase suggested it might be Langerhans cell histiocytosis, but it usually starts in the brain and Abigail's brain was just fine. Dr. Foreman suggested cystic fibrosis, but her exocrine function was normal. Dr. Wilson suggested Hodgkin's disease, but Dr. Cameron thought it was an autoimmune disorder and suggested steroids for lupus. However, Dr. Wilson pointed out steroids would spike her blood sugar and put her back in a coma - the test for Hodgkin's was safer. However, Dr. Cameron pointed out Abigail could die before the results came back. Dr. Cuddy ordered a lumbar puncture and an ANA test.
Dr. Wilson explained to the mother that because of Abigail's dwarfism, they had to pick a higher entry point for the LP, which increased the chance of paralysis. The mother wanted to know why they didn't wait for the results of the ANA test, but Dr. Wilson told her they wanted to proceed quickly. The mother wanted to know what Dr. House thought, and she became angry when she was told Dr. House was too sick to work on the case.
Dr. Cameron went to Dr. House for a consult. She thought Dr. Wilson was wrong about Hodgkin's as Abigail had none of the other symptoms such as weight loss and night sweats. Dr. House agreed that autoimmune was more likely, but lupus was probably wrong as it usually attacks the kidneys first. He asked if Abigail had been sick and Dr. Cameron told him about the ear infections. He surmised that an infection set off an autoimmune disorder. Given the anemia, her low sed rate and her age, Still's disease was the most likely. He suggested prednisone, methotrexate, and cyclosporin.
Dr. Cuddy realized Dr. Cameron had seen Dr. House, but wanted to know what he said anyway. When told about the Stihl's diagnosis, she noted that there was virtually no way to confirm it before they started treating her. Treating her for Stihl's was much more dangerous than treating her for lupus. Nevertheless, she ordered treatment for Stihl's.
Abigail started to improve with treatment. However, she later started bleeding.
Dr. Chase ruled out a ruptured eardrum, ear infection and bleeding disorder as causes of the bleeding. Her heart rate was climbing, her blood pressure was dropping and she was on the verge of a multi-system failure. Dr. Foreman performed a CT scan of her head which was clean, ruling out a neurological problem. The cerebrospinal fluid was negative for Hodgkin's, but Dr. Wilson suggested leukemia and the need for a bone marrow biopsy. However, Dr. Cameron stated none of the blood tests pointed to leukemia, and it wouldn't explain the collapsed lung. Dr. Wilson argued a small clot could have caused an infarction which led to the lung collapse. Dr. Cameron pointed out it was still more likely to be an autoimmune disease, but Dr. Wilson noted she crashed while on steroids. Dr. Foreman summed it up - it had to be either cancer or autoimmune. Dr. Cuddy asked for one-half hour to decide.
Dr. Cuddy approached Dr. House for a consult. She told him it wasn't Stihl's, but the steroids seemed to be helping until she started bleeding from both her ears and mouth. She offered to lift his suspension. She told him it either had to be cancer or an autoimmune disorder. Suddenly Dr. House realized something and asked for an x-ray of Abigail's leg. The x-ray looked normal - including her growth plates. That was impossible for a person with dwarfism. He had realized that there is no definitive test for CHH dwarfism so doctors just assumed she had it because she was of short stature and her mother did have CHH dwarfism. If she wasn't a dwarf, her height was due solely to a deficiency of human growth hormone due to a problem with her pituitary gland and she most like had the problem for some time before they started treating her. Combined with her other symptoms, Langerhans cell histiocytosis was back on the table as the most likely diagnosis - it is both a cancer and an autoimmune disease. They ruled it out because she didn't seem to have any neurological symptoms, but her short stature was the neurological symptom. She improved on steroids because they affected the autoimmune component, but not the cancer.
Dr. House showed Abigail that a granuloma had crushed her pituitary gland, leaving her with no human growth hormone. Her ear infection set off the same cells that formed the granuloma, which affected her lungs, liver and pancreas. She needed chemotherapy and surgery to remove the granuloma, but her prognosis was good. She could then take human growth hormone supplements to grow to a height within two standard deviations of average. Abigail asked what would happen if she didn't take the human growth hormone. Dr. House told her she needed the hormone, but Abigail resisted, telling him that she liked the way she was. He told her it was her ticket out of the freak show.
The mother confronted Dr. House, but he didn't back down from his stance that she needed human growth hormone. He told the mother he thought she wanted her daughter to remain a freak. He then told her they both knew that being normal sucked and being a freak made them stronger, but he told her to think about how strong she wanted her daughter to be.
The mother told Abigail that she should take the supplements as it wouldn't make her less unique, and it would give her the chance to have things she couldn't have. Abigail agreed to the supplements.
==A reflection of House==
As House pointed out to Maddy, being a freak makes you stronger, and as a result, Abigail is, like House, independent and self-sufficient. The idea that Abigail could become "normal" seems to unsettle Maddy, just like it unsettles House when treatments for his condition threaten what makes him special.
In addition, both are treatable to make them more "normal" - House with rehab and Abigail with HGH. However, both are terrified that treatment will make them something they don't want to be - normal.
In addition, both have mothers that will enable their behavior as long as they believe it makes them special. House is faced with a situation that many friends of his mother probably faced - facing down a mother who's determined to make their child exceptional no matter what the cost. House, it appears, is more persuasive than anyone who dealt with his mother.
==Reaching the diagnosis==
We start with a differential diagnosis for a pneumothorax. The most common cause is chest trauma, which was quickly ruled out. The next most common cause is some sort of disease of the lung. Of those, COPD is the most common, but it can be ruled out in Abigail because she's too young. Cystic fibrosis would be the next most common cause, but she had no medical history of the condition. Pneumonia is next, but she would be much more ill if that were the case. A bleb is actually a pretty good guess by Cuddy - they can burst and fill the space around the lung with fluid. However, they are more common in people 20-40 than a 15 year old.
As such, House and his team are probably on solid ground looking further into the possibility of a lung disease. Cameron is on solid ground thinking the tuberculosis test may have been a false negative - the most common cause of a false-negative on the test is where the patient is immunocompromised. She's right that this type of dwarfism results in a mild to severe immunocompromised state. In addition, tuberculosis often goes hand in hand with anemia.
However, the results of the scan were justifiably confusing. In a normal patient, gallium migrates to certain areas of the body, including the liver. In Abigail, the liver was the only part of the scan that didn't seem to have gallium. However, after Cuddy removes House from the case, she goes with a standard technique - an MRI of the lungs to look for abnormalities. That's not a bad idea, but it's hardly at House's level.
The vomiting of blood proved House right almost immediately. Broken varicose veins in the esophagus are one of the classic signs and are often the first sign of liver disease. Foreman's guess of schistosomiasis was a stretch (it is endemic to Egypt), but was quickly ruled out. The only diagnoses the team could come up with were hepatoma, which is rare in a 15 year old, and cirrhosis, which although rare, would at least be possible if she abused drugs. The biopsy and environmental scan were not a bad next step.
It seemed to pay off when the biopsy was positive for primary sclerosing cholangitis - its a common cause of cirrhosis, has no well understood cause, and could certainly affect Abigail. However, the alkaline phosphatase levels should have been elevated. House was right to suspect that the disease would spread to the pancreas next - the liver, biliary tree and pancreas are all connected.
Cameron was probably right to believe the chronic ear infections, joint pain and constipation were merely complications of her dwarfism. Foreman went out on a limb with the test for alpha 1-antitrypsin deficiency, but it can cause lung, liver and pancreas problems. When that test was negative, Cuddy was probably right to focus on the biliary system. once they found inflammation of the bile duct. However, bile duct cancer was a very poor fit - it doesn't generally cause Abigail's symptoms and does have other recognizable symptoms such as jaundice. However, even though Foreman was wrong about alpha 1, the ketoacidosis could only be caused by a pancreatic problem.
Chase suggested Langerhans at this point, but he was wrong about it generally causing brain problems (it more often manifests with bone problems). Foreman repeating the cystic fibrosis differential is a big stretch - it has specific symptoms like thick mucus. Hodgkin's is a stretch by Wilson. If Abigail had it, then bile duct cancer, which presents with the same symptoms, should be back on the table too. Cameron runs to lupus, which is also a bad fit as it usually doesn't start with liver symptoms. Cuddy orders more tests. A lumbar puncture could point to Hodgkin's, and an ANA could be a good indication of lupus.
House is probably right to rule out a cancer, but Still's is just as big a stretch as lupus. Moreover, there is no way to test for Still's - it's diagnosed by ruling out everything else and requires much more aggressive treatment. Cuddy goes along with it anyway and Abigail starts to improve.
The bleeding, however, is a big setback. Once the prosaic causes are quickly eliminated. Cameron is right to challenge leukemia - it usually doesn't affect the organs. Wilson is stretching again when he blames the systemic problems on clots, particularly in a patient who is clearly suffering from a bleeding disorder. However, he's right when he notes that getting worse on steroids points toward cancer and away from autoimmune.
House finally hits a home run when he finds out Abigail's height isn't due to dwarfism, but suppressed pituitary function. This neurological symptom points back to Langerhans. In addition, Langerhans presents both as an autoimmune condition (because it's due to an autoimmune response) and a cancer (because the cells that migrate to fight the immune system grow granulomas) Ironically, Abigail needed both steroids and chemotherapy to manage her condition..
==Explaining the medicine==
*Alkaline phosphatase is present in all the body's tissues, but is particularly prevalent in the liver, bile duct, kidneys, bones, the mucous membranes of the intestines and, in pregnant women, the placenta. The reason for why levels are elevated in certain diseases and suppressed in others is not understood, but several conditions are often associated with high or low levels. A test can be useful in a differential.
*In many forms of dwarfism, bones do not grow correctly because cartilage cannot be converted properly into bone. Like rings on a tree, each conversion of cartilage in a growing person adds a bone plate which can be seen on an x-ray. In individuals with achondroplastic forms of dwarfism, cartilage conversion into bone is more haphazard and no plates are seen. Abigail's normal growth plates point to pituitary dwarfism.
*Achondroplastic dwarfs (like Meredith Eaton) cannot be treated with human growth hormone because the extra hormone merely increases the amount of bone being grown haphazardly, making the complications worse.
==Video==
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