A newborn with Hirschsprung's disease in the neonatal intensive care unit presents with respiratory failure. ABGs show a mildly elevated PaCO2 during wakefulness and markedly elevated PaCO2 during non-REM sleep. He seems to forget to breathe when sleeping. You test him with inhalation of CO2 and he has no respiratory discomfort.
This oyster-catcher with alcoholic cirrhosis in the Chesapeake Bay presents during the summer with the wound infections shown above. The wounds look pretty bad, so you keep him in the ED for a few hours. Over that time period, he becomes hypotensive, tachycardic, and obtunded; you admit him to the ICU for sepsis. Blood cultures grow out the bacteria shown in panel C.
You do an away rotation in obstetrics in Turkey and saw several cases of the disease shown above, which is rarely seen in the United States. 60-75% of these newborns are deaf, 10-20% have cardiac malformations, and 10-25% have CNS defects.
I have a tendency to hunt down rare and fun and bizarre diseases, but we shouldn't neglect common solid family medicine diagnoses as well.
You are on an away rotation in India. A father brings his child, shown above, to clinic. The child has been severely constipated. On exam, his height and weight are severely diminished, he is bradycardic, hypotensive, and hypothermic. He has thin, dry skin with redundant skin folds and hair loss. When you treat this condition, the child becomes ravenously hungry.
This blood smear is from a 20 year old man complaining about acute onset severe chest pain with nausea and vomiting. He is febrile, tachypneic, and hypertensive.
This gadolinium CT of a 30 year old patient shows a well-circumscribed capillary-rich benign neoplasm. Unfortunately, he is at risk for developing multiple such tumors, usually infratentorial. His past medical history is notable for retinal detachment due to "bleeding from a tumor" several years ago. He is also being seen by ENT doctors for some sort of problem with his temporal bone which has caused hearing loss and tinnitus. Family history is notable for father dying of clear cell renal cell carcinoma at age 60. The grandfather also had the same cancer as well as pancreatic cysts.
As a hematologist, you are asked to see a 25 year old female with easy bruising and heavy periods. She says she's always been an easy bleeder with nosebleeds lasting 30 minutes and severe bleeding after wisdom tooth extraction. After she delivered her last child, she had heavy bleeding during the peripartum period and then 7 days after delivery. Her ob/gyn referred her to you. She denies any soft tissue or joint swelling. She denies using any NSAIDs or aspirin. Physical examination is normal. The pattern of inheritance is shown above. Her CBC including platelets is normal.
You are on the genetics consult service (you're at a tertiary care hospital) and are asked to see a 6 month old infant with seizure. Physical exam shows a protruding abdomen and hepatomegaly. Laboratory tests show hypoglycemia, hyperlipidemia, and a lactic acidosis. The infant was born to a healthy G1P0 30 year old mother but since birth has had poor growth. The pattern of inheritance is shown above.
Challenge: What's your diagnosis?
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