Sore throat, fever, intensifying malaise and abdominal pain: Will le diagnostic escape you?
Sunil K. Sood et al
One of your patients, a 16-year-old boy who's been healthy until now, was brought to the ED earlier today, you are informed, complaining of three days of throat and abdominal pain, fever, and swelling of the neck.
The ED physician goes on to describe that she found abdominal tenderness and erythema of the oropharynx but that her exam was otherwise unremarkable. Lab test results show anemia (hemoglobin, 11.9 g/dL); thrombocytopenia (platelet count, 90 X 103/?L) and hyperbilirubinemia (total bilirubin, 4.3 mg/dL; direct bilirubin, 1.4 mg/dL). Liver function tests are normal. A throat culture for group A Streptococcus, a hepatitis panel, and a heterophil antibody assay for Epstein-Barr virus (EBV) have been ordered, but the patient is being released before results are returned because he appears otherwise well. His parents have been told to follow up with a visit to your office tomorrow.
The next day, before your patient arrives, you check on those pending test results. The heterophil antibody assay is negative, as is the hepatitis panel. But you're not feeling very enlightened: The heterophil assay can be negative in early EBV disease and, with liver function normal, hepatitis is unlikely, anyway.
In walks your patient, looking tired but not in distress. You confirm the history; on the physical exam, you note scleral icterus and a swollen submandibular lymph node—but nothing else. You order an EBV serologic study and a Coombs' test but, because he looks well, you send him home once again, with a presumptive diagnosis of early EBV infection as the cause of the throat pain, lymphadenopathy, scleral icterus, and splenomegaly.
Mais il retourne!
But the following day, the boy's parents call your office. They are increasingly concerned. His abdominal pain has become worse, they tell you, he can no longer tolerate even fluids, and the fever continues. And he is feeling more and more lethargic. Uncertain how to proceed, you direct them to bring the boy back to the ED, where you will meet them, for further evaluation.
When you meet the family at the hospital, the boy—now on day 5 of symptoms—appears tired. Vital signs are stable. The physical exam is significant for an erythematous oropharynx, scleral icterus and, now, enlarged, right-sided, submandibular, matted lymph nodes. You note abdominal tenderness upon palpation of the right upper quadrant, without guarding or hepatosplenomegaly. Reflecting on the earlier test results, you send off for new blood tests and are surprised by the continuing presence of anemia (hemoglobin, 10.6 g/dL); thrombocytopenia (platelets, 67 X 103/?L) and hyperbilirubinemia (total bilirubin, 7.4 mg/dL; direct bilirubin, 4.2 mg/dL). Blood is drawn for culture.
You decide to admit the boy to the pediatric floor for rehydration and further workup of this intriguing constellation of symptoms. Throughout the day, the fever continues and he begins to have intermittent episodes of shaking chills. The chills abate soon enough, but the patient continues to look ill and the diagnosis remains a mystery.
You step back to consider where things stand. Infectious mononucleosis can certainly prompt this presentation, but EBV titers and the heterophil assay were completely negative. Hepatitis can present this way, but the history and test results are inconsistent. Could this be an autoimmune hemolytic anemia? That's doubtful: The Coombs' test was negative. And how to explain the progressive abdominal pain?
ID will think of something (peut-?te) At this point, after so much physical inspection of no conclusiveness, you seek a subspecialist's opinion. The intern doing an infectious disease elective examines the patient. Afterward, in presenting the case to the ID attending physician, she reports that what has been described as enlarged submandibular lymph nodes is, in her estimation, a tender neck mass under the mid-sternocleidomastoid muscle.
The ID attending has a hunch! He rushes in to palpate the patient's neck, and confirms his speculation. He tells the mystified floor resident, "Order a neck CT and you'll have your diagnosis."