Rectal Metyrapone for Treatment of Hypercortisolism in an Infant with McCune-Albright Syndrome.

Infantile Cushing syndrome is an infrequent yet potentially fatal manifestation of McCune-Albright syndrome, for which there are few safe treatments available. Ketoconazole is limited by potential hepatotoxicity in this population. Metyrapone may be an effective treatment, but it may not be tolerated when given orally. An infant with McCune-Albright syndrome presented with severe Cushing syndrome. Oral metyrapone resulted in feeding refusal, and ketoconazole caused an increase in liver enzymes; however, she was successfully treated with metyrapone given rectally. The patient avoided a feeding tube, and her serum cortisol concentration was lowered to a safe level. Metyrapone given per rectum may be a safe and effective alternative to oral metyrapone in treating young children with Cushing syndrome.