title: Autosomal dominant endosteal hyperostosis. Report of a Spanish family with neurological involvement.
abstract: The first reported Spanish family with autosomal dominant endosteal hyperostosis is presented and two members in two different generations studied. Neurological involvement with sensorineural hearing loss, chronic intracranial hypertension, and mild corticospinal tract abnormalities were found in one case with radiological evidence of progressive bone disease at follow-up. In addition to mild hydrocephalus, CT-scan of the head documented a reduction in size of the posterior fossa and encroachment of the foramen magnum. A pattern of selective increase in the bone fraction of serum alkaline phosphatase was also recorded. This family supports the view that severe forms of endosteal hyperostosis are not confined to the autosomal recessive variant, as individuals with the autosomal dominant form may also show relentless progression to neurological involvement during adulthood.
mesh_terms: D000469:Alkaline Phosphatase / Q000097:blood; D005147:Facial Bones / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics; D010009:Osteochondrodysplasias / Q000097:blood / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D012886:Skull / Q000002:abnormalities; D014057:Tomography, X-Ray Computed
chemical_list: D000469:Alkaline Phosphatase