Before beginning this week's Mystery Diagnosis column, I would like to congratulate all those who came up with some excellent diagnoses on last week's article! We had guesses ranging from Lyme disease to porphyria, and a select few even made the correct call to do an abdominal ultrasound/MRI, after noting that hormonal imbalances may account for Elise's increased facial hair and weight gain. This scan showed a teratoma on the right ovary. Lab analysis of the growth showed that it was made up of brain tissue, and Elise's body was making antibodies to attack this tissue. Of course, antibodies produced to attack brain tissue on Elise's ovary will also attack her own brain (a case of autoimmune encephalitis), resulting in epileptic episodes, personality changes, and hallucinations. Removal of the growth returned Elise to her normal, happy state!
This week, we move on to another difficult case. Our patient is a little boy named Elijah. At three months old, he is the youngest in a family of five -- and by far the most doted upon. His older sisters carry him everywhere, treating him like a doll at their tea parties. His parents brag to their friends about how quickly he is advancing; Elijah could hold his head up within just a few days of his birth, and even rolled over at one month of age. For the most part, Elijah has been very healthy in these early months of his life, save for a mild cold he got about ten days ago. After some standard doses of Children's Tylenol, as advised by Elijah's pediatrician, and a little honey to help wash it down, Elijah seemed to recover just fine within a few days. This week, however, Elijah appears to have taken a turn for the worse.
Elijah has refused to eat for the past two days, and his understandably panicked parents have rushed him to the local hospital, where he is now admitted in the pediatric intensive care unit. Upon admission into the hospital, nurses noticed Elijah was also having difficulty breathing. He was quickly placed on an easy pap (a machine that helps provide positive pressure on a patient's airways) and is receiving intravenous nutrients, as he still will not accept food orally. Furthermore, Elijah seems suddenly weak physically. While his cries could be heard all through the home a mere week earlier, he doesn't seem to make any sounds above a whimper now. While he was fairly active before, he now lays rather lethargic in his hospital bed, unable to consistently hold his head up.
Last night was by far the worst. Elijah's parents awoke to the entire medical staff in their little boy's room, looking on as the doctors applied chest compressions and tried to resuscitate him. Elijah's breathing had gotten so low that his heart had stopped, briefly. Fortunately, he was revived and intubated and is currently on a ventilator, which should do his breathing for him. Meanwhile, his doctors are confounded: Elijah's CBC, electrolytes, LFTs, and urinalysis have all returned within the normal range.
Now it's your turn: leave a comment guessing the patient’s diagnosis! If you have any questions, perhaps about the results from a test you as a doctor would run on the patient, feel free to pose those as well and I will answer to the best of my ability. I will not be replying to guesses about the diagnosis -- only to questions about test results not listed here. Best of luck!





















