Neurofibromatosis and fragile-X syndrome in the same patient.

We report on an 11 1/2-year-old boy with neurofibromatosis and the fragile-X syndrome. Clinical manifestation of neurofibromatosis include multiple cafe-au-lait spots, axillary freckles, congenital glaucoma, relative macrocephaly, radiologic findings of overtubulation of the long bones, and precocious puberty. The fragile-X syndrome manifests itself as mental retardation with behavior problems, macro-orchidism, and specific cytogenetic findings. The boy has normal serum hormone levels, but a greatly elevated FSH on a first morning void, which contains the nocturnally secreted gonadotropins. This seems to be the first reported occurrence of the fragile-X syndrome with another inherited disease.