A 5 year old child of French and Dutch descent is referred to your pediatric practice for recurrent febrile episodes of unclear etiology. After an uneventful full-term birth to a healthy 30 year old mother, the patient began having febrile episodes in her first year of life. The episodes happen every 4-8 weeks, lasting 4 days to a week, and in between, the child is normal and healthy. The episodes seem to be triggered by vaccinations, minor trauma, and stress, though they also happen at other times. The patient characteristically gets nasal congestion, sore throat, fatigue, headache, or behavioral changes followed by chills, then a rapid onset fever to higher than 38.5. During these episodes, the patient has palpable tender, rubbery lymphadenopathy, mostly cervical. Occasionally, the child complains of abdominal pain, and twice, went to the operating room where a normal appendix (as well as rest of bowel) was found. Splenomegaly was noted, however. During these episodes, she has symmetric arthritis of larger joints which can linger a few days beyond the cessation of fever. The patient also develops an erythematous, macular rash over multiple parts of the body that sometimes become confluent. Acral lesions are more common than truncal ones. ESR, CRP, leukocytes, and ferritin are elevated during attacks. IgA and IgD are elevated both during and in between attacks.
Many other causes have been worked up, including all infectious etiologies, surgical emergencies, pancreatitis, familial Mediterranean fever, and acute intermittent porphyria, which have all been negative.
Challenge: What is this genetic disorder?
Thursday, April 25, 2013
A 50 year old woman with major depressive disorder, iron deficiency, and anemia complains of lower leg discomfort at rest. Movement relieves the discomfort. This discomfort occurs in both legs and is described as "crawling, creeping, pulling, or stretching" deep under the skin. There is no pain, numbness, tingling, or increased sensitivity of the skin. The symptoms are worst at night, about 20 minutes after getting in bed. She also complains of insomnia and daytime sleepiness. A sleep study is negative for obstructive sleep apnea, but finds the trace shown above. The blue is a normal sleep pattern while the red is the patient's sleep pattern. In addition, the patient has sudden jerking leg movements with extension of the toes and flexion of the ankle and knee that last a few seconds but repeat in clusters. The rest of the neurologic exam is normal.
Challenge: What's your diagnosis?
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Monday, April 22, 2013
A 20 year old man is involved in a bombing and has penetrating injury to his leg. He is taken immediately to the operating theatre and undergoes an above-the-knee amputation of his leg. Post-operatively, he is admitted to the wards, continued on antibiotics, and started on thromboprophylaxis. During the first few days post-operatively, however, the patient continues to have pain at the site of the amputation requiring high doses of IV opiates. The patient points out exactly where the pain is, and injection of lidocaine relieves the pain. The patient is taken back to the OR and a biopsy is shown below.
Excision of the problem relieves the pain and the patient eventually transfers to a rehabilitation facility. However, even in the rehabilitation facility, the patient complains of burning, electric, aching pain in the amputated limb. X-ray does not show any bone spurs, local tissue oxygen tension is normal, and there is no evidence of infection.
Challenge 2: What's the diagnosis here?
First image of woodcut by Hans von Gersdorff is in the public domain, from Wikipedia; second image shown under Fair Use.
Thursday, April 18, 2013
Challenge: What's the diagnosis?
Image of insulin in the public domain, from Wikipedia.
Monday, April 15, 2013
Challenge: What's the diagnosis?
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Thursday, April 11, 2013
Monday, April 8, 2013
Thursday, April 4, 2013
This image shows young children in West Africa leading blind adults. The first symptom of disease is generalized itching with inflammatory papules, nodules, and plaques. The etiology of the blindness can be seen on slit-lamp examination:
Challenge: What's this disease seen commonly in endemic populations but rarely in travelers?
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