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(Pediatrics in Review. 2007;28:455-461.)
© 2007 American Academy of Pediatrics
| The first 300 words of the full text of this article appear below. |
| Case 1 Presentation |
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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
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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