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?

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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?

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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?

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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?

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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?

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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?