Perez-Vicente J A, Rodríguez de Castro E, Lafuente J, Mateo M M, Giménez-Roldán S
Clin Genet. 1987 Mar;31(3):161-9.
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.
本文报告了首例患常染色体显性骨内膜增生症的西班牙家族，并对两代家族中的两名成员进行了研究。在1例病例中发现了神经受累情况，伴有感音神经性听力损失、慢性颅内高压和轻度皮质脊髓束异常，随访时的放射学证据显示存在进行性骨病。除轻度脑积水外，头部CT扫描显示后颅窝尺寸减小和枕骨大孔受压。还记录到血清碱性磷酸酶骨部分选择性升高的模式。这个家族支持这样一种观点，即严重形式的骨内膜增生症并不局限于常染色体隐性变异型，因为常染色体显性形式的个体在成年期也可能出现持续进展并累及神经系统。
