A Diamond is Forever

Happy New Year!

A six month old baby is referred to you because of profound anemia of 4.5 g/dL. He has a snub nose, wide set eyes, a thick upper lip, and an intelligent expression. Looking at the records, you note a progressive normochromic and macrocytic anemia. The WBC and platelet counts are normal. The patient's reticulocytes are markedly decreased. There is increased Hgb F. The bone marrow shows normal cellularity but very few erythrocyte precursors. Red cell adenosine deaminase activity is increased. There is a positive family history for this disease.

Challenge: What's going on?

Happy Holidays

This is sort of a fun case that's taken from the blog A Cartoon Guide to Being a Doctor. Hope you all have happy holidays! I think there will be no case this Thursday, but I'll plan for a case a week from today.

Challenge: How many diseases can you name?

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Are We Uncomfortable Yet?

A 35 year old woman presents to you in clinic with a complaint of vaginal bleeding after sex. This has only started happening recently; she says, "I've had dozens of partners in the past and this is new." The bleeding happens during and right after coitus. She does not have menorrhagia, irregular menstrual cycles, or intermenstrual bleeding in the absence of coitus. There is no pain, dyspareunia, or dysuria. Her partner is asymptomatic. She has not seen any doctors ever, and is worried she has an STD. Exam does not show any lesions; the vagina and cervix look normal, without discharge. HIV, hepatitis, gonococcus, chlamydia are negative.

Challenge: What is the most serious potential diagnosis?

Opposite of Midnight

Challenge: What autosomal dominant disease associated with pulmonary valve abnormalities and hypertrophic cardiomyopathy is shown above?

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Windowing Your CT

A 70 year old woman with diabetes presents with fevers, chills, flank pain, abdominal pain, nausea, and vomiting over the last week. Labs show hyperglycemia, leukocytosis, acute renal failure, and pyuria.

Imaging is shown above. Panel A is an abdominal radiograph. Panel B is a CT scan in soft tissue window. Panel C is an air window.

Challenge: What are the two most likely organisms that cause this disease?

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Noncon

Challenge: What's going on in this non-contrast head CT?

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Walk With Me

What do you think about the following gait assessments in an elderly patient?

1) This patient's toes don't clear the ground; the toes scuff with each step. Thus, the patient uses circumduction of the hip to help toe clearance. When you look at the patient's shoes (because that is part of your regular exam), there is wearing of the soles at the tips.

2) This patient's step is high. There is an audible slap as the foot hits the ground.

3) This patient's gait is described as "stumbling, lurching, staggering, slow, reduced step length, wide-based, reeling, and drunken." Acceleration and braking are impaired, and not only in gait, but with other movements as well.

4) This patient walks as if on ice. He has a cautious gait, slow, with shortened stride length on a normal or slightly wide base. He turns en bloc. There are no other signs of Parkinsonism.