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(Pediatrics in Review. 2007;28:455-461.)
© 2007 American Academy of Pediatrics

Index of Suspicion

The first 300 words of the full text of this article appear below.


    Case 1 Presentation
 
A 5-year-old boy who has Angelman syndrome has experienced nonbloody, nonbilious vomiting for 2 days. He has eaten poorly but has had no diarrhea, fever, sick contacts, or suspected ingestions. He takes phenytoin for seizures. He was seen earlier today at another ED, where his abdominal radiographic findings were normal; he was discharged with phenothiazine suppositories. The vomiting has persisted. A repeat abdominal radiograph is read as being normal. His serum sodium concentration is 145 mEq/L (145 mmol/L), potassium is 4 mEq/L (4 mmol/L), chloride is 95 mEq/L (95 mmol/L), bicarbonate is 25 mEq/L (25 mmol/L), BUN is 53 mg/ dL (18.9 mmol/L), creatinine is 1.3 mg/dL (114.9 mcmol/L), and glucose is 83 mg/dL (4.6 mmol/L); his phenytoin concentration is in the therapeutic range. He is admitted for vomiting with dehydration and given intravenous fluids.

The boy appears well and has normal vital signs. He is developmentally delayed and does not speak, but is interactive. His appearance, behavior, and neurologic features are consistent with Angelman syndrome. His physical examination shows a soft, nontender, nondistended abdomen without organomegaly. All other physical findings are normal.

The boy does not vomit overnight and is allowed to eat, after which he vomits persistently. Repeat abdominal radiography again reveals no abnormality. His serum sodium concentration is 151 mEq/L (151 mmol/L), potassium is 3.8 mEq/L (3.8 mmol/L), chloride is 108 mEq/L (108 mmol/L), bicarbonate is 36 mEq/L (36 mmol/L), BUN is 20 mg/dL (7.1 mmol/L), creatinine is 0.8 mg/dL (70.7 mcmol/L), amylase is 175 U/L (2.9 mckat/L) (normal range, 25 to 125 U/L [0.42 to 2.1 mckat/L]), and lipase is 109 U/L (1.8 mckat/L) (normal range, 22 to 51 U/L [0.4 to 0.9 mckat/L]). His stool culture is negative, and he has no fever or diarrhea. He is maintained on intravenous fluids and not allowed to . . . [Full Text of this Article]


Michael Holmes, MD
Roberto L. Rodriguez, MD, MPH
Dell Children's Medical Center of Central Texas, Austin, Tex

Eric S. Silver, MD
Morgan Stanley Children's Hospital of New York-Presbyterian, New York, NY

Belinda Chan, MD
Ara Festekjian, MD
Children's Hospital of Los Angeles, Los Angeles, Calif

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