Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae

We present the case of a 13-month-old, nonconsanguineous, Hispanic boy with rectal abscesses and perianal fistulae beginning at 2 months of age. At the time of initial consultation, he had undergone 11 prior operations for abscess drainage. His infectious history was notable for recurrent upper respiratory tract infections, acute otitis media, chronic diarrhea, and an episode of thrush that resolved with oral nystatin at 2 months of age. He did not have a history of pneumonia, growth failure, or signs of endocrinopathy.

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