[A case of leprechaunism with cryptorchidism]

A 6-year-old boy whose chief complaint was right undescended testis was referred to our clinic. He had mental retardation, prominent and widely spaced eyes, large and low-set ears, micrognathia, hyperpigmentation and enlarged genitalia. Therefore, he was diagnosed to have Leprechaunism. Leprechaunism is rare and few studies dealing with this disease have been reported in Japan. With a review of the literature, we briefly discuss about the clinical features of Leprechaunism.