Live Science Plus
Doctors write case reports to help call rare conditions to the attention of their peers, or to highlight patients whose diagnoses ended up being a bit of a puzzle. Case reports can shed light on emerging trends, hinting at when a condition might be becoming more common. They can also point out treatments that seem to work for diseases that have very few therapeutic options. At Live Science, our writers and editors highlight a report each week to raise awareness of these cases, and in the process, shed light on how the human body works and what happens when things go awry.
Latest about Diagnostic dilemma
A cross tattoo on a man's neck disappeared — killing his skin as it did so
A man's neck tattoo triggered a reaction so rare that it was only the second recorded case.
A man went to the doctor for a bad UTI and learned he had an extra kidney
A man being treated for a urinary tract infection turned out to have a rare "supernumerary kidney."
Woman born without a vagina or cervix went on to conceive a son naturally
A woman's rare condition made it unlikely for her to conceive without reproductive assistance, but in her case, she eventually bore a child without fertility treatment.
A doctor discovered the gene mutation behind his family's mysterious missing-teeth condition
A doctor who had a genetic condition that prevents teeth from forming searched for the DNA mutation that had affected his family for over 150 years.
A parasite never before seen in humans was behind a woman's lung infection, organ damage and forgetfulness
A woman developed a persistent infection, and doctors couldn't pinpoint the cause for many months.
Diagnostic dilemma: 83-year-old man's unusual form of syphilis had an 'uncertain' source
A man went to the emergency room after being in and out of hospitals for a month, and doctors found a surprising explanation for his illness.
Teenager contracts rare 'welder's anthrax,' marking the ninth known case ever reported
A teenager training to be a welder contracted a rare and dangerous lung infection, prompting a combined state and federal investigation.
Man's autopsy reveals unexpected 'boomerang-shaped' structure in his heart
A surprising autopsy marked the first time a bony, supportive structure was documented in an adult human heart, medical examiners reported.
