Paganini and Rachmaninoff

Panel A is normal; panel B represents the patient; panel C is a variant.

These are images from a tall young adult with scoliosis and history of pneumothorax.

Challenge: What an awesome collection of pictures demonstrating this autosomal dominant disease - what is it?

Images shown under Fair Use.

Happy Holidays

Whoops! I forgot to note that I'm taking another Case-of-the-Day break for the holidays. See you next Monday!

Craig

Early Bird

A 33 year old G1P0 woman at 33 weeks, 5 days gestation presents with painful regular contractions. Her pregnancy has otherwise been uneventful. Her fetal heart tracing is reassuring. You start her on some betamethasone and give her an oral medication that can cause nausea, flushing, headache, dizziness and palpitations.

Challenge: What medication is it?

Image is in the public domain.

Hemisphere

This CT scan is from an 8-year-old girl who presented with seizures and progressive hemiparesis. The seizures are unilateral and intractable, frequently evolving into focal motor status epilepticus or epilepsia partialis continua. She has been treated unsuccessfully with immunosuppressants. Brain biopsy only shows nonspecific inflammation.

Challenge: What's your diagnosis?

Image shown under Creative Commons Attribution Share-Alike License.

Nuff SAID

You are seeing a new patient for the first time in your family practice clinic. This is a young gentleman with a history of asthma with occasional albuterol use. His surgical history is notable for resection of nasal polyps and functional endoscopic sinus surgery for chronic rhinosinusitis. He is allergic to aspirin, getting wheezing, chest tightness, facial flushing, and conjunctival injection between 30 minutes and 3 hours after taking it. His family history is significant for diabetes, hypertension, and dementia. He drinks occasionally, quit smoking after his diagnosis of asthma, and denies drug use. He is a lawyer and lives with his wife.

Challenge: What triad stands out from his history and what does it signify?

Image shown under GNU Free Documentation License.

Many Faces

Challenge: Here are many faces of what disease?

First image is in the public domain; last three are shown under Creative Common Attribution Share-Alike License.

The Difficult Patient

A 30 year old man who recently got out of jail for the fourth time sees you for mandatory follow-up. He has been in trouble with the law since his late teenage years. But when you look farther back, he's had problems since age 10 with fights with peers, conflicts with authority figures, stealing, vandalism, fire setting, and running away from home. He's never been able to hold a consistent job. His social support is poor; he has been divorced, and his ex-wife says he never showed any empathy. He doesn't have any strong interpersonal relationships. He is estranged from his family for stealing and lying. When you talk to him, he doesn't show any remorse for his past transgressions.

He has past diagnoses of substance misuse, major depressive disorder, and attention deficit hyperactivity disorder. He continues to smoke, drink, and use marijuana, but has avoided other drugs.

Challenge: What personality disorder do you recognize here?

Airway

A morbidly obese middle aged man with unknown past medical and surgical history has a motorcycle crash. All his injuries are above the neck. He has multiple facial fractures, orbital fractures, mandibular fractures, tongue lacerations, CSF rhinorrhea, and scalp hematomas. On arrival, he is obtunded. Bag-mask-ventilation is impossible with the jaw fractures. An attempt is made to intubate him but nothing can be visualized. An attempt to place a laryngeal mask (LMA) also fails. The patient begins to desaturate.

You come to the rescue. After identifying the appropriate landmark and scrubbing with povidone-iodine, you place a needle with a syringe half-filled with saline into the airway at 30-45 degrees directed caudally. When you see air bubbles in the syringe, you advance a catheter, remove the needle, and confirm placement again. Then you connect the catheter to a bag-valve-mask, confirm CO2, and call a surgeon for a definitive procedure.

An X-ray is shown below.

Challenge: What procedure did you perform and what complication do you see above?

Image shown under Fair Use.

Gratitude

Happy Thanksgiving! This blog revolves around obscure, fascinating, strange, and unusual diseases, but some days, we have to give thanks for the healthy.

You are a pediatrician evaluating a perfectly healthy baby. She can stand on one foot with some slight support, walk backward, and even go up stairs with one hand held. She scribbles spontaneously, picks up and drinks from a cup, fetches and carries objects, and finds a toy observed to be hidden under layers of covers. She periodically visually relocates her caregiver and has some self-consciousness, feeling embarrassed when she sees you observing her. She understands simple commands and uses 5-10 words.

Challenge: How old is she?

Image is from Wikipedia, shown under Creative Commons Share-Alike License.

The Coagulation Cascade

A 30 year old postpartum woman presents with bleeding after minor surgery. She is G1P1 and recently delivered a healthy baby boy at 39 weeks. Her pregnancy was complicated by gestational diabetes mellitus, but there were no problems with the delivery. Three months after delivery she had her wisdom teeth pulled and had prolonged bleeding. She also noted increased epistaxis and mucosal bleeding. She has no other surgical history. She takes iron, has no allergies, has a nonsignificant social history, and has an otherwise negative review of systems. Her labs show an prolonged aPTT with a normal PT. You then take her plasma and mix it with pooled normal plasma; the aPTT remains prolonged.

Challenge: What does this mean? What's the most likely diagnosis?

Image from Wikipedia, shown under Creative Commons Attribution Share-Alike License.

Catching Up with Life

Hi everyone,

Thank you for following along with all the cases. Each time I sit down to write a new blog, I wonder whether there are any more medical diseases I can find, but I always find something. It's been pretty time-consuming, however, and I need a break from Case of the Day this week. I've been falling behind with lots of competing priorities, and I just need to make a little more room. It's also why cases and solutions occasionally show up a little bit late. But thank you for understanding and I hope you're enjoying and learning. Come back next Monday for a new case.

Craig

Prognosis

A 60 year old man presents with headaches and seizures. A T1 weighted MRI is shown below.

Challenge: What's the most likely diagnosis?

Image shown under Fair Use.

April Showers

A 30 year old woman presents with an unprovoked pulmonary embolism. In searching for the cause, a contrast MRI is performed, shown above.

Challenge: What's the syndrome?

Image shown under Fair Use.

Goat's Rue

An 80 year old gentleman is brought in by ambulance to the emergency department for "problems breathing." His family found him at home with empty pill bottles, confused and tachypneic. It's not clear what he ingested, though all the pill bottles were his. His past medical history includes hypertension, hyperlipidemia, diabetes, osteoarthritis, and dementia. His family knows he takes one medication for each of those diseases. He also has chronic kidney disease and cirrhosis, though he does not take any medications for those comorbidities. His past surgical history is insignificant, he has no allergies, he does not smoke, he drinks 2 beers a night, and he does not do illicit drugs.

Currently, he is complaining of nausea and abdominal pain. He is tachycardic, hypotensive, and tachypneic. He is a little confused. A fingerstick glucose is 70. Acetaminophen and salicylate levels are negative. An EKG shows sinus tachycardia with no changes in QRS or QTc intervals. A chest X-ray and CT abdomen are normal. An arterial blood gas shows an anion gap metabolic acidosis with respiratory compensation. A chemistry panel shows a Cr of 1.8. His WBC is normal, he has no fever, blood cultures are obtained, and a urine sample is normal.

Challenge: There is no antidote for this culprit. What is it?

Image shown under Creative Commons Attribution license, from Wikipedia.

Check

A middle-aged man with an unknown past medical history is brought in after a motor vehicle accident. He was going 60mph when he hit the center divider of the highway and flipped his car. He was extricated after a prolonged period of time. On scene, he was confused but talking, moving all extremities, with a GCS of 12. On arrival to the emergency department, however, he becomes progressively more somnolent to a GCS of 7. He is hypotensive, tachycardic, and tachypneic. He is intubated for airway protection. A primary exam shows maxillofacial trauma, CSF rhinorrhea, absent breath sounds on the right, a positive FAST scan, and several extremity fractures. A chest tube is placed successfully. Multiple IVs are placed and blood transfusions are started. An attempt to start an arterial line is unsuccessful due to a weak pulse. A chest X-ray shows several rib fractures and a resolving pneumothorax. He is sent to the CT scanner.

In the CT scanner, he spikes a temperature and becomes more hypotensive. He is started on vancomycin and piperacillin-tazobactam. His blood pressures continue to plummet and the CT scan is aborted. He is taken emergently to the operating room for an exploratory laparotomy. The anesthesiologist continues to fluid resuscitate the patient, giving more blood products, fresh frozen plasma, and platelets. The patient is started on a dopamine drip. A fibrinogen panel comes back low and cryoglobulin is administered. At the end of the case, dark red-brown urine is noted in the Foley catheter. Initial placement of the Foley catheter showed concentrated yellow urine. At this time, the hematology lab calls and says that when they spun down the patient's blood, the plasma was light pink. A critical lab value of potassium 6.2 is also noted.

Challenge: What happened?

Bonus Question: What's shown in the picture above?

Image shown under GNU Free Documentation License, from Wikipedia.

Zombie

You live in Papua New Guinea. You meet a patient who was normal up to a year ago when he developed tremors, ataxia, and postural instability. You remember him well; he was shaking so hard that he looked like he was shivering. Because of worsening tremors and ataxia, he became nonambulatory six months ago. At that time, he was noted to have myoclonus, choreoathetosis, and fasciculations. Unfortunately, you are unable to diagnose the disease, and he progresses to dementia. Exam shows frontal release signs and dysarthria. He ultimately succumbs to pneumonia.

Challenge: What's the diagnosis? Happy Halloween!

Cat and Mouse

A 30 year old G1P0 pregnant woman brings in her pet rat. "He's acting so weirdly," she says. Apparently, the rat "Ralph S Mouse" is normally terrified of cat urine. The woman owns a cat as well. However, lately, the mouse has been attracted to cat urine. His other fears of loud sounds, snakes, and strangers are not abolished.

Challenge: You tell the pregnant woman that she must not do what?

Image is in the public domain.

Vanished

Challenge: What's the diagnosis? (Click to zoom)

Image is in the public domain.

Hot Cross Buns

A 55 year old man is initially diagnosed with Parkinson's disease. He has bradykinesia, rigidity, postural instability, and an irregular jerky action tremor of the arms. Parkinson's was initially diagnosed by his primary care physician when he had multiple falls at home. Since then, however, he's developed extensor plantar responses, severe anterior flexion of the spine (camptocormia), anterocollis, and dysphagia. With these progressive changes, he is sent to you.

When you begin talking to the patient, you note hypophonic monotony. His wife says his voice has also undergone an increase in pitch and gained a quivering, strained element. She's also noticed a weird change in his sleep; he talks, shouts, and occasionally even strikes out into the air. When he awakes, he says he had a vivid, frightening dream. He also has a high-pitched inspiratory noise during his sleep; he is being worked up for obstructive sleep apnea. On review of systems, you find that he has symptomatic orthostatic hypotension, erectile dysfunction, and urinary dysfunction. He does not seem to exhibit any cognitive changes.

Here is a T2 weighted MRI:

Challenge: What's your diagnosis?

Image shown under Fair Use.

Curving of Joints

This drawing from 1841 depicts an infant with contractures of multiple joints. This heterogeneous group of disorders is characterized by degeneration of motor neurons. Most cases are neurogenic (disorders of the CNS, genetic syndromes, and chromosomal aberrations), but a small fraction result from primary muscle disease. Severity is variable.

Challenge: What is this?

Image is in the public domain.

Tired, Heavy Legs

This 60 year old obese smoker complains of aching and swelling of his legs, especially when standing or seated for a prolonged time. The pain is not relieved with rest. His past surgical history is significant for bilateral knee replacements for osteoarthritis.

Challenge: What's your diagnosis?

Image is in the public domain.

Doesn't Belong Here

A 40 year old woman presents with urinary frequency, urgency, dysuria, and urinary retention. She's seen multiple physicians who have ruled out UTI, interstitial cystitis, and kidney stones. Here symptoms are recurring, happening mostly around her menses. She denies fevers, chills, weight loss, and hematuria. A pelvic ultrasound is negative for hydronephrosis but does note ovarian cysts. Finally, she undergoes a cystoscopy which shows this on the posterior bladder wall:

Challenge: What is it?

Image shown under Fair Use.

Sorting Wool

This farmer says that he usually has a few cuts or abrasions from his work, but this presentation is new. When it began, it was small, painless, but itchy. It then enlarged into a "blister" and eroded into the finding shown above.

This disease can progress to larger involvement with lymphadenopathy and lymphadenitis as shown below:

Challenge: This began about a week after exposure to what?

Images shown under Fair Use.

Obliquity

You are observing this adolescent patient from the back while he bends forward at the waist until the spine is parallel to the horizontal plane. The feet are together, knees straight ahead, arms hanging free.

Challenge: What is this device?

Image shown under Fair Use.

Birds of a Feather

Hello Case of the Day Readers! 

Thank you for following this blog. I apologize for the irregularity of posts recently. It's been busy and now I'm out of the country on a medical mission, but I will try to keep the cases going. Since my medical mission involves pediatric orthopedics, here's a case for you:

Thanks,

Craig

This 1-year old girl has this finding on both feet. Her mother is a 32 year old healthy G1P1 and the pregnancy and delivery were uncomplicated.

Challenge: What's your diagnosis?

Image shown under Fair Use.

Cell Biology

A 20 year old presents with severe cramps in the arms and legs, fatigue, polyuria, and nocturia. His past medical history is notable only for chondrocalcinosis. He takes no medications. He smokes occasionally. His review of systems is all negative. Blood pressure is 110/70, heart rate 65, respiratory rate 12, saturation 100%. Labs show hypokalemia and hypomagnesemia. As this is surprising, you do further investigation and find hypocalciuria and metabolic alkalosis.

Challenge: What's this autosomal recessive disease?

Image shown under Creative Commons Attribution Share-Alike License.

There Is No Spoon

I'm sorry this posted late. This will be the only case this week, but we should be regularly scheduled starting next Monday.

This skin lesion is an asymptomatic papule or nodule and is firm to the touch. Depression of one side of the lesion leads to elevation of the other side. It is most common in childhood and adolescence.

Challenge: What is it?

Image shown under Fair Use.

Special K

You are a public health physician investigating a trend of bleeding in newborns. Several unrelated newborns in their first week of life have been hospitalized for various problems. One newborn has cutaneous bleeding, two have gastrointestinal bleeding, and one has intracranial bleeding. In all cases, parents refused any interventions for their children after birth. One mother was on anticonvulsants through the pregnancy, and another was taking a cephalosporin.

Challenge: What's going on?

Image is in the public domain, from Wikipedia.

You're In

A 40 year old G1P0 woman at 36 weeks gestation presents to the emergency department with nausea, vomiting, and upper abdominal epigastric pain. She has a history of gestational diabetes and obesity, but no other medical problems. Her symptoms had worsened over several days, accompanied by headache, which she associates with not being able to keep any food down. She adamantly refuses any X-rays or scans because of her pregnancy.

Vitals are heart rate 90, blood pressure 145/91, respiratory rate 16, oxygen saturation 98% on room air. On exam, you note a normal gravid uterus, negative McBurney's sign, no rebound or guarding, but mild epigastric tenderness to palpation. You also note peripheral edema. Laboratory tests show an elevated hematocrit, a platelet count of 90,000/microL, a creatinine of 1.4 mg/dL.

Challenge: What test is shown in the image above and why do you order it?

Image shown under Creative Commons Attribution Share-Alike License.

Oregon Trail

A traveler to south-central Asia, southeast Asia, and southern Africa comes to your clinic two weeks after returning to the U.S. He has fevers and chills without rigors. On exam, you note bradycardia despite a temperature of 39. You're not sure what is going on so you send him home. He returns a week later with abdominal pain and a rash shown below.

You still don't know what's going on so you make a referral to some subspecialists. Unfortunately, a week later, he presents acutely to the emergency department with hepatosplenomegaly, intestinal bleeding, and peritonitis. He undergoes exploratory laparotomy and is found to have ileocecal perforation. Pathology shows lymphatic hyperplasia of the Peyer's patches.

Challenge: What happened here?

Image is in the public domain.

Diagrams

Challenge: What's going on here?

Image shown under Fair Use.

Pain in the...

A 50 year old otherwise healthy woman presents to your clinic with intermittent rectal pain that no one can diagnose. She has severe attacks of anorectal pain lasting from a few seconds to minutes. The attacks are infrequent, less than five episodes a year, and she is asymptomatic between episodes. They happen day or night, without any specific triggers, unrelated to bowel movements. She has seen multiple gastroenterologists, gynecologists, surgeons, and other physicians who have found nothing wrong. Physical exam, lab tests, CT scan, MRI, anoscopy, and colonoscopy have yielded nothing abnormal. Anorectal manometry is normal.

Challenge: What is this called?

Back to the Drawing Board

A 30 year old woman with anxiety and longstanding migraines comes in with severe head pain despite "trying everything." Her headache history starts as a teenager when she had classic migraine symptoms of unilateral head pain lasting 24 hours triggered by poor sleep, stress, or poor eating habits, associated with nausea, vomiting, photophobia, and phonophobia. These were treated with NSAIDs and acetaminophen.

However, in her late 20s, her migraines started happening more and more frequently. She started taking compounds containing acetaminophen, hydrocodone, oxycodone, butalbital, caffeine, aspirin, and ibuprofen with some relief. She now takes multiple medications a day including a daily triptan. Despite trying everything, she currently suffers a constant debilitating headache present when she wakes up in the morning. She gets some relief from her medications but never enough. She also has nausea, difficulty concentrating, and irritability. Her vital signs and neurologic exam are normal.

Challenge: She asks if she has a brain tumor or if you have another medication or why her migraines have gotten so bad. What do you say?

Image of Fioricet is in the public domain, from Wikipedia.

Bound

 A 70 year old man with a history of smoking, COPD, and lung cancer undergoes a pneumonectomy for non small cell lung cancer. His post-operative course is complicated by hemothorax requiring chest tube placement. He eventually is discharged to home. On his routine post-operative visit, he continues to complain of shortness of breath. There is no pleuritic chest pain, cough, or fever. CXR shows an effusion and thoracentesis is performed which has LDH and pleural fluid protein that are borderline between transudate and exudate. WBC is low and predominantly mononuclear. Weeks later, the pleural effusion is back.

A CT is obtained and shown above.

Challenge: What's your diagnosis?

Image shown under Fair Use.

Tonic Water

Challenge: What antiarrhythmic causes this arrhythmia? Side effects include nausea, diarrhea, abdominal pain, tinnitus, hearing loss, confusion, delirium, vision changes, and psychosis.

Beware the Internet

A 50 year old man presents to your family practice clinic with a multitude of complaints. He says he bought some Internet supplements for "sexual function." Since taking them, however, he's noticed increased acne, gynecomastia, urinary frequency at night, snoring, and daytime sleepiness. Lab tests show that his hematocrit has increased compared to a year ago.

This scientist in Zurich shared the Nobel Prize for synthesizing the drug from a cholesterol base.

Challenge: What supplement is he taking?

X Files

A 5 year old boy comes to your clinic because of bleeding propensity. Even at birth, he had petechiae and prolonged bleeding from the umbilical stump and after circumcision. Through his childhood, he has had purpura, epistaxis, hematuria, and even one episode of GI bleeding. His past medical history is significant for eczema, for which he is followed by a dermatologist, and recurrent Streptococcal and Haemophilus infections. He's had otitis media, sinusitis, and pneumonia, especially in the last two years.

Exam shows some lymphadenopathy and hepatosplenomegaly. He has eczema and some Molluscum. Labs show a decreased platelet count.

Challenge: This patient is at risk for lymphoma, autoimmune disorders, and other malignancies. What does he have?

Image shown under Fair Use.

Cottonmouth

You're working in an emergency department in the geographical area shown above. A patient comes in with marked swelling of a hand. He fell into a river and felt pain in the affected hand. He also has nausea, vomiting, diarrhea, light-headedness, diaphoresis, and chills.

Challenge: What's your diagnosis?

First image shown under Creative Commons Attribution Share-Alike License. Second image shown under Fair Use.

Dolor

A 35 year old G4P4 woman presents with chronic pelvic pain, your favorite chief complaint. This has been going on for years. It began with her second pregnancy and worsened with each subsequent pregnancy. It's a dull ache or heaviness that increases premenstrually. It is exacerbated by prolonged standing, postural changes, walking, coughing, and after intercourse. It is mostly on the left side. A bimanual examination shows marked ovarian tenderness, cervical motion tenderness, and uterine tenderness with direct palpation.

She's seen multiple physicians. Pelvic sonograms have only shown dilated pelvic veins in the adnexa and outer myometrium. CT scans have only showed tortuous and dilated ovarian veins. A left ovarian venogram is shown above. She's even had a diagnostic laparoscopy that was normal. She's been treated with opiates, antibiotics, steroids, and other medications. The only thing that has benefited has been medroxyprogesterone acetate.

Challenge: What's your diagnosis?

Image shown under Fair Use.

Spiro

You see three patients in thoracic surgery pre-operative clinic, all with a 100 pack-year smoking history, COPD, and lung cancer.

Patient 1 has an FEV1 of 1.4L and will undergo a lobectomy. Based on a CT scan, you predict his postoperative FEV1 to be 900mL.

Patient 2 has an FEV1 of 1.9L and will undergo a lobectomy. He also has interstitial lung disease and his DLCO is 55%.

Patient 3 has an FEV1 of 2.2L and will undergo a pneumonectomy. He does not have any further studies.

Challenge: All three patients are scheduled for surgery tomorrow. Do you need to cancel or delay any surgeries for further studies?

Image shown under GNU Free Documentation License, from Wikipedia.

No Man is an Island

Challenge: What are we looking at?

Image shown under Fair Use.

Echo (echo) II

The echo and aortic root angiography shown above are taken in a patient with Williams syndrome.

Challenge: What do you see?

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Echo (echo) I

Although this is the most common congenital heart defect at birth, it accounts for only 10% of defects in adults. Although most patients are asymptomatic, some are at risk for aortic regurgitation, endocarditis, or heart failure.

Challenge: What's shown here?

Image is in the public domain.

The Apple and the Tree

A 25 year old G4P0 woman who has not had any prenatal care comes to the hospital with sudden vaginal bleeding, abdominal and back pain, and uterine contractions. Her obstetric history is notable for stillbirths and a fetal demise in the past. She appears to be at term. Because of nonreassuring fetal heart tones, she goes to a stat C-section. She is hypertensive in the operating room prior to anesthesia. After delivery, there is significant blood loss, and baby is delivered to the pediatric team.

When the baby is two to three days old, he is noted to have tremors, a high pitched cry, irritability, excess suck, hyperalertness, and episodes of apnea.

Challenge: What's going on?

Image is in the public domain.

Where's the Pain? II

A 50 year old woman presents with right leg pain. She complains of back pain radiating down the posterior aspect of her leg into the foot. Examination shows weakness of plantar flexion, leg extension, and toe flexion. There is no ankle reflect. Sensation is diminished on the posterior aspect of the leg and lateral foot.

Challenge: Where's the pain coming from?

Image is in the public domain.

Where's the Pain? I

A 40 year old woman with depression, PTSD, and PCOS presents with continued abdominal pain. She localizes the pain to a highly discrete region of her lower right abdomen 2cm in diameter near the lateral aspect of the rectus abdominus sheath. The character of the pain is difficult to describe, and it's worse with standing, walking, stretching, laughing, coughing, and sneezing. While supine, you ask her to raise both legs off the table, and touching the area produces greater pain. Her past surgical history includes a cholecystectomy, appendectomy, and lysis of adhesions. She takes several hydrocodone-acetaminophen pills a day, an oral contraceptive, and sertraline. The rest of her review of systems is negative.

Challenge: What's your diagnosis?

Happy July!

Happy July! For medical residents, this signifies a new year as graduates start their first jobs, finishing medical students attach an "MD" to their name, and each resident adds a "+1" to their level of training. I'm going to take a week off from writing cases, so I'll be back next Monday. Thanks for following along!

Craig

Bug Juice

A patient with Staph endocarditis (not yet speciated) who has been receiving the antibiotic shown above for 3 days develops the rash shown below. Mucosal surfaces are spared. A dermatologist takes a biopsy and the pathologist notes linear IgA deposition at the dermal-epidermal junction of the basement membrane zone.

Challenge: Discontinuation of the drug leads to resolution of the rash - what drug is it?

First image is in the public domain. Second image shown under Fair Use.