Pierre-Kahn A, Hirsch J F, Renier D, Metzger J, Maroteaux P
Childs Brain. 1980;7(4):205-19.
Two series of achondroplastic patients were studied. The first series included 5 patients referred to our neurosurgical department for macrocranium and/or mental retardation. The second series was composed of 20 patients arbitrarily chosen from a medical group. Macrocranium was observed in 60% of the patients and was related to hydrocephalus in all but 2 cases. Radiological studies demonstrated that the posterior fossa was deformed and narrowed in its 3 planes, while its volume was conserved because of an abnormal ascension of the tentorium. The conflict between normal brain development and the craniostenosis at the base of the skull is responsible for an upward tilt of the petrous pyramids, a lowering of the mastoid process, and the illusion of a basilar invagination. Ventriculographies, pneumoencephalographies and isotopic transits demonstrated normal CSF circulation. The study suggests that hydrocephalus is related to the stenosis of the sigmoid sinus at the level of narrowed jugular foramina with a resulting raise in intracranial venous pressure. The majority of patients with macrocranium stabilizes spontaneously. Thus, a surgical indication should be extremely limited.
对两组成骨不全患者进行了研究。第一组包括5名因巨头症和/或智力发育迟缓转诊至我们神经外科的患者。第二组由从一个医疗群体中任意选取的20名患者组成。60%的患者观察到巨头症，除2例以外，所有病例均与脑积水有关。放射学研究表明，后颅窝在三个平面上变形且变窄，而由于小脑幕异常上移，其容积得以保留。正常脑发育与颅底颅骨狭窄之间的冲突导致岩骨向上倾斜、乳突降低以及基底凹陷的假象。脑室造影、气脑造影和同位素通过显示脑脊液循环正常。该研究表明，脑积水与颈静脉孔狭窄水平处的乙状窦狭窄有关，导致颅内静脉压升高。大多数巨头症患者会自发稳定。因此，手术指征应极其有限。
