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.
D002675:Child, Preschool; D005600:Fragile X Syndrome / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007621:Karyotyping; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D011629:Puberty, Precocious / Q000150:complications*; D012729:Sex Chromosome Aberrations / Q000150:complications*; D016136:Spina Bifida Occulta / Q000473:pathology; D013737:Testis / Q000473:pathology