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Case examples illustrate the importance of differential diagnosis in unexpected patient presentations, suggesting vigilance in clinical assessments.
MindS everal months ago, I was on service and we were consulted on a previously healthy 27-year-old man from Tajikistan who presented to the emergency department (ED) with several weeks of shortness of breath, fatigue, back pain, and abdominal discomfort.Imaging in the ED showed a 19-cm right hepatic lobe mass with invasion or metastases into the right adrenal gland (Figure 1A).Further imaging revealed numerous bilateral pulmonary nodules, many with cavitation, suspicious for metastatic disease (Figure 1B).It was assumed he had metastatic carcinoma, and we needed to break the news.We met with the patient and his family and discussed the implications of this clinical scenario, as well as the need for tissue diagnosis.They asked whether it was time for him to return home to Tajikistan to be with his family.Surprisingly, his laboratory studies were largely normal, hepatitis serology was negative, and all of his serum tumor markers were unremarkable.A biopsy performed the next day, though not finalized for several days, showed necrotic tissue with scattered, variably sized capsules or cysts containing calcified debris and eosinophilic lamellar structures.Echinococcus multilocularis was suspected, and this was later confirmed when Echinococcus antibody testing returned positive.The patient was started on lifelong albendazole, effectively commuting what had initially seemed like a death sentence.Just a few weeks later, a patient of mine, whom I had recently started on androgen deprivation therapy (ADT), called in with severe fatigue.He had been on ADT for only a few weeks but found himself largely unable to work due to extreme tiredness.We began to wonder if he was exquisitely sensitive to ADT, but this seemed very out of proportion to what we typically see.We were discussing whether to stop therapy or how to balance his ADT with his life and work.In the meantime, he had a syncopal episode with fever, was admitted to the hospital, discharged, and then re-presented with intermittent fevers and another syncopal episode.An astute infectious diseases fellow learned that the patient lives near the woods and that his wife recently found a tick on her, which she tested and found to be Borrelia miyamotoi .The patient was subsequently tested for tick-borne disease and, lo and behold, was found to have a positive PCR for Anaplasma phagocytophilum DNA.Within a few days of doxycycline, he was feeling much better and able to resume his therapy.As a solid tumor oncologist, I frequently have the diagnosis a priori or clearly obvious from the outset; it is the management that I tend to focus on.Although perhaps obvious, these cases reminded me to return to the differential diagnosis and keep an open mind, rather than closing the diagnostic window.It is also a good reminder of how medicine never ceases to surprise and be fun!
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Daniel M. Geynisman (2026) studied this question.
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