Post a clinical picture...

Originally posted by Kalel
Your patient has Tetrahydrobiopterin deficiency, or "malignant PKU". The patient's phenyalanine hydroxylase activity is normal, but they lack tetrahydrobiopterin which is some sort of co-factor for phenyalanine hydroxylase. I was able to find several different forms of this disease, so I don't know which enzymes you are specifically looking for.

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Yeah, it's BH4 deficiency, which commonly leads to neurologic complications because of BH4's important additional role as a cofactor for both tyrosine hydroxylase and tryptophan hydroxylase. These enzymes are vital for production of dopamine and serotonin, respectively, which are both active in the brain. Thus a deficiency in these two neurotransmitters would lead to disease.

Originally posted by Idiopathic
I couldnt imagine a ruptured gastric ulcer giving any mediastinal symptoms, does that happen? This is actually Boorhaeve's syndrome, or a ruptured distal esophagus, with blood and various 'juices' accumulating in the thoracic cavity and air in the mediastinum due to no barrier when breathing, of course. MCC is most common cause and it is actually iatrogenic, I have been told, due to endocsopy mishaps. Most people say severe retching, but I have been told that is not the 'MCC'.

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My understanding is that Boorhaeve's is actually secondary to vomiting, and that when it occurs iatrogenically, it is called iatrogenic perforation (ie those are 2 separate disease processes that cause esophageal perforation). You are correct in that iatrogenic perforation is a much more common cause of esophageal perforation then Boorhaeve's syndrome, which is rare. Is Boorhaeve's associated with gastritis? That's what threw me off. In order to make my case work with my ruptured gastric ulcer (which could be associated with the gastritis), I had to give your patient a hiatal hernia too.

Schistosomiasis is not correct for my case. Schistosomiasis is typically associated with normal liver enzymes or a slight elevation in alk phos, not an isolated elevation in bilirubin. Chronic schistosomiasis can rarely cause liver failure, but when it does, it's usually associated with some comorbidity. In my case, let's say that the bilirubin is pretty high (10), and all other liver enzymes are normal. You really have to think about the pathogenesis of this disease in order to come up with an answer to my case.

Originally posted by Idiopathic
We just had it explained that the syndrome is what it is, and that it is more commonly due to overzealous endoscopy than retching.

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I'm certain that this is just a different usage of terms, and I was able to find websites that used Boerhaave's both ways (iatrogenically or just spontaneously). Unfortunately, my old edition of Harrison's didn't have a definition, but Stedman's defines Boerhaave as this:
"spontaneous rupture of the lower esophagus, a variant of Mallory Weiss"
And the Merck Manual agrees:
http://www.merck.com/mrkshared/mmanual/section3/chapter20/20k.jsp
Since Mallory Weiss is not associated with iatrogenic trauma, and Boerhaave's is considered "spontaneous", I think that technically, iatrogenic trauma or overzealous endoscopy is called iatrogenic perforation of the esophagus while Boerhaave's is reserved for rupture associated with wretching.

3-year old girl suddenly starts crying when her father is swinging her around by her arms. She soon settles down and goes off to play with her dolls. However, she refuses to use her left arm, which is flexed and rotated inwards.

The ER phycisian says "aha" and fixes it in 4 minutes.

(The girl is my daughter, btw)

kalel for your liver case..could the patient have both Crigler Najjar type II plus something like Dubin Johnson at the same time, these together could lead to increase in both elevations? interested to hear the answer to this one...



50Yo male is Dx with Gastric adenocarcinoma, the tumor metastiszes to the rectum..what is this tumor called now?
in the female what is the tumor that migrates to the ovary?
(these should be easy)

12-yo native American boy complains of diffuse knee pain. On PE, the knee pain seems referred, abduction and external rotation of the hip is diminished. The abnormality is seen near the femoral neck on lateral x-ray.

.

Originally posted by NebelDO
kalel for your liver case..could the patient have both Crigler Najjar type II plus something like Dubin Johnson at the same time, these together could lead to increase in both elevations? interested to hear the answer to this one...



50Yo male is Dx with Gastric adenocarcinoma, the tumor metastiszes to the rectum..what is this tumor called now?
in the female what is the tumor that migrates to the ovary?
(these should be easy)

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Krukenberg in the woman. Don't know about the man.

kalel.. i looked further i think it would be more Dubin johnson or Rotor syndrome over CJ. if its not that then i think maybe something Clonorchis Sinesis infection??


the gastro tumor that goes to the rectum is a "Blumers shelf" tumor..not all that important but i heard it the other day in class and thought id ask.

correct on the krukenburg.

bellkicker..is it a Ewing's Sarcoma?

Originally posted by NebelDO
kalel.. i looked further i think it would be more Dubin johnson or Rotor syndrome over CJ. if its not that then i think maybe something Clonorchis Sinesis infection??

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Those are all some good thoughts. DJ and Rotor syndrome both can give you hyper-conjugated bilirubinemia, but I said that both conjugated and unconjugated bilirubin were elevated. Also, neither condition is associated with a fever, diarrhea, or cough; unless you want to super-impose another infection on your patient with a hereditary disorder as a stressor for something like CJ to manifest itself. Given the recent travel history, GI sx, and fever, I was definitely looking for something down the infectious route. Clonorchis Sinesis is an excellent thought and certainly one possibility. However, based upon my research on the topic right now, it looks like it causes more of an obstructive type cholangitis picture which would mean that conjugated bilirubin would be elevated, but also liver enzymes, particularly alk phos, would also most likely be elevated.

The answer that I was looking for with my cases is actually Leptosporiasis. Leptosporiasis can cause capillary leak within the liver, causing conjugated bilirubin to be released along with unconjugated bilrubin by hemolysis of RBC's as it creates these "holes". Meanwhile, liver enzymes and alk phos can remain normal if lepto does not obstruct the bile duct. I think that lepto is the only infectious disease that can do this. Anyways, this was an unusual presentation that I heard at a morning report, I didn't really expect anybody to get it, but I just thought that it was a fun case.

Originally posted by BellKicker
3-year old girl suddenly starts crying when her father is swinging her around by her arms. She soon settles down and goes off to play with her dolls. However, she refuses to use her left arm, which is flexed and rotated inwards.

The ER phycisian says "aha" and fixes it in 4 minutes.

(The girl is my daughter, btw)

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Nursemaid's elbow

Originally posted by BellKicker
12-yo native American boy complains of diffuse knee pain. On PE, the knee pain seems referred, abduction and external rotation of the hip is diminished. The abnormality is seen near the femoral neck on lateral x-ray.

.

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Avascular necrosis of the femoral head.

Originally posted by Kalel
Nursemaid's elbow

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I've never heard it called that but you may be right )it sounds right).

Anatomically, it's subluxation of the radial head. You pull and supinate the antebrachum and it pops right back into place.

34 yo WM with new onset A Fib, weight loss, heat intolerance, and tremor. Appears anxious on exam.

Originally posted by Kalel
Avascular necrosis of the femoral head.

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Avascular necrosis of the femoral head would hurt more and the pain would be found deep in the hip (the patient would point to his groin). Besides, I think the patient is slightly too old for legg-calve-perthes.

I had slipped epiphyseal disk in mind, which usually presents with diffuse and referred pain.

Originally posted by BellKicker
I've never heard it called that but you may be right )it sounds right).

Anatomically, it's subluxation of the radial head. You pull and supinate the antebrachum and it pops right back into place.

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Yup. It's probably just a US name. It's the same thing though.

Originally posted by Kalel
34 yo WM with new onset A Fib, weight loss, heat intolerance, and tremor. Appears anxious on exam.

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Thyrotoxicosis

25-yo woman presents with burning nearly intolerable pain on the left side of her face. The pain covers the area from her lips to her eye-brows. Her history is otherwise unremarkable except for an episode 2 months ago with eye pain and blurred vision.

What the diagnosis and what should one rule out?

Originally posted by BellKicker
25-yo woman presents with burning nearly intolerable pain on the left side of her face. The pain covers the area from her lips to her eye-brows. Her history is otherwise unremarkable except for an episode 2 months ago with eye pain and blurred vision.

What the diagnosis and what should one rule out?

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I'm guessing zoster opthalmicus from a latent herpes infection of the trigeminal nerve


"A 27 yo homosexual male presents with proctitis and swollen inguinal lymph nodes that ooze. Fever and headaches are present. Dx and what would serology reveal"

Originally posted by Stinger86
I'm guessing zoster opthalmicus from a latent herpes infection of the trigeminal nerve


"A 27 yo homosexual male presents with proctitis and swollen inguinal lymph nodes that ooze. Fever and headaches are present. Dx and what would serology reveal"

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Yes, it's trigeminal neuralgia but it's the maxillary branch, not the ophthalmic one. A patient of that age with a history of eye-pain and blurred vision has a high risk of having multiple sclerosis.

Yours: Is it lymphogranuloma venereum? Serology would be a positive complement fixation test?

Originally posted by BellKicker
Yes, it's trigeminal neuralgia but it's the maxillary branch, not the ophthalmic one. A patient of that age with a history of eye-pain and blurred vision has a high risk of having multiple sclerosis.

Yours: Is it lymphogranuloma venereum? Serology would be a positive complement fixation test?

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Yeah you got it. I was looking for the C. trachomatis L2 serovar.

20 yo WF with amennorhea and short stature presents with hypertension and decreased femoral pulses.

Looking for 2 diagnoses.

Thyrotoxicosis was correct for my previous case.

Originally posted by Kalel
20 yo WF with amennorhea and short stature presents with hypertension and decreased femoral pulses.

Looking for 2 diagnoses.

Thyrotoxicosis was correct for my previous case.

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A patient with Turner's syndrome complicated by coarctation of the aorta.


"A patient complaining of acute severe chest pain, with a PE that shows a 20 mm Hg difference in systolic BP taken from both arms. CXR shows mediastinal widening"

grauloma inguinale?

see Donovan bodies..

for the herpes case i forget is Ramsy Hunt the same thing?

[QUOTE "A patient complaining of acute severe chest pain, with a PE that shows a 20 mm Hg difference in systolic BP taken from both arms. CXR shows mediastinal widening" [/B][/QUOTE]

aortic dissection

here you go...

"60 yo chronic alcoholic presents with confusion and flapping tremor of hands when arms are outstretched"

Originally posted by NebelDO
grauloma inguinale?

see Donovan bodies..

for the herpes case i forget is Ramsy Hunt the same thing?

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Ramsay Hunt Syndrome or herpes zoster oticus causes facial paralysis (through CN VII), herpetic lesions in the ear canal, vertigo, tinnitus and hearing loss. The facial paralysis seen with trigeminal nerve involvment effects the motor innervation of CN V (muscles of mastication).

Originally posted by djipopo


"60 yo chronic alcoholic presents with confusion and flapping tremor of hands when arms are outstretched"

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hepatic encephalopathy with asterixis (flapping of hands when arms are outstretched). The few cases of asterixis that I have seen have been difficult for me to distinguish between tremor(attending would say mild asterixis, while I would call it a tremor).

50 yo schizophrenic presents with delerium, hyperglycemia, and severe dehydration. What medication probably precipitated this event?

thats right..thanks kalel.. so many to have to keep straight.


another classic..

34YO male comes to the ER coughing up bloody sputum for 2 days. there was a trace blood in his urine as well.
Dx?
what do you look for in the blood?

Originally posted by NebelDO
34YO male comes to the ER coughing up bloody sputum for 2 days. there was a trace blood in his urine as well.
Dx?
what do you look for in the blood?

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Goodpasture's? If so, you should be able to find anti-GBM antibodies in the blood




"A man with a history of trauma to the left CNVII complains of unilateral eye-watering right before and during eating. Dx?"

Originally posted by Stinger86

"A man with a history of trauma to the left CNVII complains of unilateral eye-watering right before and during eating. Dx?"

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Crocodile tears syndrome. After the trauma, the fibers regenerated randomly so some salivary gland fibers now innervate the lacrimal gland.

Originally posted by Kalel


50 yo schizophrenic presents with delerium, hyperglycemia, and severe dehydration. What medication probably precipitated this event?

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He took insulin? If it has been an attention-seeking health-care professional, it could have been M?nchausen syndrome (which according to one study is more common than insulinoma).

Originally posted by BellKicker
He took insulin? If it has been an attention-seeking health-care professional, it could have been M?nchausen syndrome (which according to one study is more common than insulinoma).

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Actually, I was thinking of the newer atypical antipsychotics. The new atypical antipsychotics, particularly Olanzapine (zyprexa), have been associated with the development of type II diabetes (schizophrenia itself is actually a risk factor for the development of type II diabetes, but by taking one of these atypicals, people's risk seems to increase 2-3 times). It's currently theorized that the atypicals lead to type II diabetes by a combination of weight gain, and effecting serotonin receptors within the pancreas, causing some sort of toxicity (atypicals are serotonin/dopamine blockers). My case presentation was supposed represent a patient begining to develop hyperosmolar hyperglycemia, which would account for the hyperglycemia, delerium, and severe dehydration. There have been a number of patients on these atypicals who have presented in this manner, and I have heard that some are actually suing the drug companies and the physicians who prescribed them.

Taking insulin may cause iatrogenic delerium, along with anxiety, but it would be associated with hypoglycemia and not associated with severe dehydration. One test that you can use to check to see if a patient is taking insulin inappropriately is checking a C-peptide level. Insulin made naturally in our bodies is made from a pre-cursor that has this C-peptide that is cleaved off right before insulin is released. Therefore, c-peptide levels correlate with physiologic insulin levels. Insulin administered iatrogenically will cause C-peptide levels to decrease. This can help you distinguish conditions of hyper-insulinemia, because an insulinoma would cause elevated levels of C-peptide and hypoglycemia, while iatrogenic insulin would cause low levels of C-peptide through counter-regulatory mechanisms.

Next Case:

64 yo with known metastatic breast ca presents with lower back pain, parasthesias in the lower extremities b/l, urinary and bowel incontinence, and decrease anal sphincter tone.

Dx and treatment? Also, thoughts about tx in a patient with metastatic breast ca (this was an actual patient of mine).

Originally posted by Kalel
Taking insulin may cause iatrogenic delerium, along with anxiety, but it would be associated with hypoglycemia and not associated with severe dehydration.

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OMG I'm an idiot; what was I thinking? I didn't know about the atypicals causing diabetes, though. Cool case.

Originally posted by Kalel

Next Case:

64 yo with known metastatic breast ca presents with lower back pain, parasthesias in the lower extremities b/l, urinary and bowel incontinence, and decrease anal sphincter tone.

Dx and treatment? Also, thoughts about tx in a patient with metastatic breast ca (this was an actual patient of mine).

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Hmmm, a epidural metastasis causing cauda equina syndrome? Tx would be roids and radiation, possibly surgery.

For breast cancer as a whole, I'm not really sure (especially in a real-life scenario like yours). If it's an estrogen-receptor positive cancer, tamoxifen or even androgens can be used. On top of that I'm sure palliative radiation or chemo is an option but I have no clue as to which regimen to use.

I'll try revamp of my old ones that no one answered:

52-yo man with known hypertension, hypercholesterolemia and atherosclerotic CAD suddenly develops weakness of both legs. There's loss of pain and temperature sensation but preservation of light touch and proprioceptive sense. Both arms are fine.

Originally posted by BellKicker

Hmmm, a epidural metastasis causing cauda equina syndrome? Tx would be roids and radiation, possibly surgery.

For breast cancer as a whole, I'm not really sure (especially in a real-life scenario like yours). If it's an estrogen-receptor positive cancer, tamoxifen or even androgens can be used. On top of that I'm sure palliative radiation or chemo is an option but I have no clue as to which regimen to use.

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Yup, the answer that I was looking for was cauda equina syndrome caused by breast ca metastasis (common metastatic sites include the bone marrow, brain, and liver with occasional direct extension through the chest wall and ribs). Cauda equina syndrome is an oncological emergency that is treated with a team approach between the neurosurgeon, the oncologist, and the radiation oncologist. The reason that I asked about the treatment for metastatic breast ca is because treatment is currently palliative only. The hormonal agents that you mentioned are typical first line agents for estrogen-receptor psotive breast ca; but they only ****** growth, they do not kill breast ca cells. There is essentially no therapy for ER-negative metastatic breast ca. However, given that my patient had cauda equina syndrome, this is still an oncological emergency despite it's poor prognosis because relieving the spinal cord compression provide important palliative care, particularly in allowing her to continue being able to walk, and have control of her urine and bowel.

Originally posted by BellKicker
I'll try revamp of my old ones that no one answered:

52-yo man with known hypertension, hypercholesterolemia and atherosclerotic CAD suddenly develops weakness of both legs. There's loss of pain and temperature sensation but preservation of light touch and proprioceptive sense. Both arms are fine.

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Spinal cord infarction.

60 yo WM with new onset diabetes, cirrhosis, and bronze skin pigmentation.

ventral spinal artery thrombosis?



7YO girl recovering from a viral infection has been taking some pain reliever and develops jaundice and encephalopathy.
histology shows massive hepatci necrosis
cause?
Dx?

kalel beat me to it..

Hemochromotosis

Originally posted by NebelDO
7YO girl recovering from a viral infection has been taking some pain reliever and develops jaundice and encephalopathy.
histology shows massive hepatci necrosis
cause?
Dx?

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Reye's Syndrome most likely caused by taking aspirin during an influenza or VZV infection.


"A 23 yo obese woman complains of difficulty getting pregnant. She reports having had very irregular menstrual periods since her first period at age 14. PE reveals mild facial hair and what appears to be indications of male-pattern baldness. Pelvic exam reveals an enlarged clitoris and enlarged ovaries. Labs indicate that she also has insulin-resistant diabetes mellitus. Dx?"

Originally posted by Stinger86
Reye's Syndrome most likely caused by taking aspirin during an influenza or VZV infection.


"A 23 yo obese woman complains of difficulty getting pregnant. She reports having had very irregular menstrual periods since her first period at age 14. PE reveals mild facial hair and what appears to be indications of male-pattern baldness. Pelvic exam reveals an enlarged clitoris and enlarged ovaries. Labs indicate that she also has insulin-resistant diabetes mellitus. Dx?"

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Polycystic ovarian disease. Besides weight loss, clomiphene (a mixed estrogen agonist and antagonist) and metformin has actually been shown to improve fertility. Diagnosis is made by ruling out many other hormonal abnormalities and other causes of infertility or menstrual irregularity.

A 73 yo previously healthy AAM is being discharged from the hospital today after having an MI. Lab values include LDL: 74, HDL: 43, TChol: 154, Tri: 130, Echo: 50% EF.

-What meds do you want to d/c this patient on? What if his EF was only 20%?

beta 1 selective beta blocker--post MI

ace inhibitor-first line for CHF, although I forgot how this helps CHF in ways besides decreasing blood pressure and volume

digoxin-systolic HF if Ejection fraction reached 20%

i dont think statin is needed cuz his lipids are great....and since he has no history of afib, why would coumadin be necessary?

Standard post-MI medications include several things:

ASA: shown to decrease morbidity and mortality
Beta-blocker: Shown to decrease mortality and morbidity, probably by preventing maladaptive ventricular remodeling through neurohormonal mechanisms. However, should be titrated up slowly in the setting of acute CHF exacerbation.
ACE inhibitors: Shown to decrease mortality and morbidity, particularly in CHF settings, probably by decreasing remodeling as well.
Statin: Should be prescribed irrespective of patient's good lipid profile in the post-MI situation because it has been shown to decrease mortality and likelihood of another MI, possibly by some anti-inflammatory mechanism.
Plavix/Clodripegel: Drug company studies have shown a slight decrease in mortality and morbidity, however, most cardiologists are not currently prescribing it secondary to cost and because the studies conducted did not reflect "real world" scenarios.
Coumadin: May be needed if patient has poor ventricular function and blood is clotting, or if the patient is in A Fib. May decrease patient's risk of having another MI, but have to weigh significant risk of patient bleeding (through CVA, or fall, or GI, etc). For this reason, not standard post-MI med.
Sprinolactone: decreases mortality and morbidity in patients with stage III-IV (severe) CHF.
Digoxin: improves morbidity (hospital stays, symptoms) of patients with CHF, however, does not effect mortality
Nitros: improves symptoms, no effect on mortality
Lasix(furosemide): improves CHF symptoms (edema), but no effect on mortality
Other anti-hypertensives (eg thiazides) should be added as needed to decrease bp to reccomended range (120/80) to improve mortality.

5 yo WF with erythematous confluent macular rash that began diffusely on her cheeks, and now has spread symmetrically to trunk and extremities. No lesions on palms or soles.

-What if the patient was an African immigrant?
-What if the patient was older and pregnant?

Originally posted by Idiopathic
Post-MI lipids are substantially decreased for approximately 6 weeks, right? I would think these levels are low for that reason.

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I think that any stressor will falsely lower lipid levels by decreasing LDL production from the liver. In our case though, any patient with vascular disease should be put on a statin irrespective of their lipid levels, particularly post-MI patients. They have been shown to decrease the likelihood of another MI and death in patients with "normal" lipid levels. The "normal" lipid levels are somewhat arbitrary and based upon population studies. More recent studies show that the lower the LDL, the better, irrespective of how low the patient's LDL levels already are. NEJM recently published a study suggesting that statins have a role in CHF patients with normal lipid levels too. I read a news article which had this scientists estimating that if they combined a beta blocker, ACE-I, ASA, and statin all into one pill and had everybody take it over the age of 50 irrespective of risk factors, they would decrease mortality every year by 80%. Pt compliance with poly-pharmacy and prescription drug costs often makes these studies less applicable to real-world practice situations (in studies, patients get drugs for free and research associates call them when they don't show up). Anybody going to take a stab at my peds case?

Originally posted by Kalel
5 yo WF with erythematous confluent macular rash that began diffusely on her cheeks, and now has spread symmetrically to trunk and extremities. No lesions on palms or soles.

-What if the patient was an African immigrant?
-What if the patient was older and pregnant?

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Rubella for kid?
woman - no idea

Originally posted by MCG
Rubella for kid?
woman - no idea

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Rubella is a good thought. However, it's unlikely given that the patient is 5 yrs old and the MMR vaccine is given to all children in the US starting at age 1. Most cases of rubella in the US that have occurred in the last few years have occurred in un-vaccinated children or unvaccinated pregnant mothers, causing the congenital rubella syndrome. The rash in rubella is usually macular papular and discrete, as opposed to confluent. Patients are typically febrile. Let's say that my patient was afebrile. Another clue is that I was actually trying to describe a "slapped cheek" appearance in my case.