• Pediatric emergency care · Sep 2011

    Case Reports

    Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.

    • Aizeddin A Mhanni, Chitra Prasad, and Cheryl Rockman-Greenberg.
    • Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada. amhanni@hsc.mb.ca
    • Pediatr Emerg Care. 2011 Sep 1;27(9):850-3.

    AbstractRecurrent abdominal pain remains one of the most common symptoms in pediatrics. We present the case of a 3-year-old girl who had recurrent episodes of abdominal pain requiring more than 13 visits to the emergency department. A diagnosis of ornithine transcarbamylase deficiency was eventually made. Urea cycle disorders often present beyond the neonatal period with frequent vomiting episodes; however, recurrent abdominal pain as a presenting symptom is unusual. Unnecessary invasive investigations of recurrent abdominal pain in childhood can be avoided by considering inborn errors of metabolism earlier in the differential diagnosis.

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