Division of Neurosurgery, National Center for Child Health and Development, Okura 2-10-1, Setagaya-ku, Tokyo, Japan.
Childs Nerv Syst. 2024 Mar;40(3):913-917. doi: 10.1007/s00381-023-06209-3. Epub 2023 Dec 13.
Achondroplasia is the most common form of dwarfism, caused by a mutation in fibroblast growth factor receptor 3 gene, leading to multiple pathological conditions. Herein, we present a case of an infant with achondroplasia associated with hydrocephalus and severe foramen magnum stenosis. Computed tomography (CT) venography showed prominent suboccipital emissary veins comprising major venous drainage routes and hypoplastic transverse sinuses, which increased the risk of foramen magnum decompression. The infant was initially treated with ventriculo-peritoneal (VP) shunt. After 8 months, CT venography showed regression of suboccipital emissary veins and more prominent transverse sinuses. Subsequently, foramen magnum decompression was safely performed without sacrificing major venous drainage routes.
软骨发育不全是最常见的侏儒症类型，由成纤维细胞生长因子受体 3 基因突变引起，可导致多种病理状况。在此，我们报告一例伴有脑积水和严重后颅窝狭窄的软骨发育不全患儿。计算机断层扫描（CT）静脉造影显示突出的枕下导静脉，构成主要的静脉引流途径和发育不良的横窦，增加了后颅窝减压的风险。患儿最初接受脑室-腹腔（VP）分流术治疗。8 个月后，CT 静脉造影显示枕下导静脉消退，横窦更加突出。随后，在不牺牲主要静脉引流途径的情况下安全地进行了后颅窝减压。
