This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page.

We invite readers to contribute case presentations and discussions.

Case 1 Presentation

A 12-year-old girl is brought to you by her grandmother with a variety of complaints. The child has been overweight all of her life, and she tends to be constipated. She describes recurrent, colicky mid-abdominal pain after eating fatty meals and has had recurrent bouts of vomiting associated with cough and hiccups dating back to her infancy. There is no recent history of fever, asthma, or jaundice.

On examination, the girl is obese, weighing 105 kg (231 lb). Chest and abdominal examinations are normal, with no masses or organomegaly. No focal tenderness is demonstrated. Formed soft stool is noted on rectal examination; the stool is hemocultnegative. Urinalysis is normal; urine culture is negative. The results of screening blood chemistry tests are normal except for a cholesterol level of 267 mg/dL and triglycerides of 280 mg/dL.

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