Neurofibromatosis and fragile-X syndrome in the same patient.

Abstract

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.

• Authors: J A Mitchell, J Wray, K Michalski
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 22 Issue 3 Pg. 571-5 (Nov 1985) ISSN: 0148-7299 [Print] United States
• PMID: 3933345 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Fragile X Syndrome (complications)
• Humans
• Intellectual Disability (complications)
• Karyotyping
• Male
• Neurofibromatosis 1 (complications, pathology)
• Puberty, Precocious (complications)
• Sex Chromosome Aberrations (complications)
• Spina Bifida Occulta (pathology)
• Testis (pathology)