Lee H J, Cho D Y, Tsai F J, Shen W C
Department of Neurosurgery, China Medical College Hospital Taichung, Taiwan, ROC.
Pediatr Neurosurg. 2001 Jan;34(1):33-9. doi: 10.1159/000055989.
Antley-Bixler syndrome (ABS) is a rare disorder characterized by multiple malformations of cartilage and bone including multisynostotic osteodysgenesis, midface hypoplasia, choanal atresia or stenosis, femoral bowing, neonatal fractures and multiple joint contractures and, occasionally, urogenital, gastrointestinal or cardiac defects. Since the first report in 1975, at least 34 cases (including this report) have been described. We present 2 cases of congenital hydrocephalus, suggesting the cause of craniosynostosis and midface hypoplasia is associated with ABS.
The first case was a 1-day-old female with Arnold-Chiari malformation, multiple cranial synostosis, obstructive hydrocephalus and radioulnahumeral synostosis. Ventriculoperitoneal (V-P) shunting was performed when she was 7 days old. She died 42 days later due to cardiopulmonary failure. The second case was a 2-month-old female with bilateral coronal synostosis, obstructive hydrocephalus and brachycephaly. V-P shunting was done soon after her admission, and bilateral lateral canthal advancement with the floating forehead procedure was performed 1 month later. She is still alive with good development.
The main anomalies of the ABS can be divided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies. They may be the result of mutation in the fibroblast growth factor receptor 2 (Ser351Cys) gene, which was confirmed in our case 2. Craniosynostosis combined with hydrocephalus created congenital increased intracranial pressure (IICP). Early V-P shunt implantation and surgical release of the closed suture and lateral canthal advancement should be done as soon as possible, ideally when the patient is younger than 3 months.
Early correction of craniosynostosis was feasible and safe for one of our patients. We offer our experience in the treatment of hydrocephalus and correction of craniosynostosis to relieve IICP.
安特利-比克斯勒综合征（ABS）是一种罕见的疾病，其特征为软骨和骨骼的多种畸形，包括多关节骨性发育异常、面中部发育不全、后鼻孔闭锁或狭窄、股骨弯曲、新生儿骨折以及多关节挛缩，偶尔还伴有泌尿生殖系统、胃肠道或心脏缺陷。自1975年首次报告以来，至少已描述了34例（包括本报告）。我们报告2例先天性脑积水病例，提示颅骨缝早闭和面中部发育不全的病因与ABS有关。
第一例为1日龄女性，患有阿诺德-奇亚里畸形、多处颅骨缝早闭、梗阻性脑积水和桡尺肱关节融合。她在7日龄时接受了脑室腹腔（V-P）分流术。42天后因心肺衰竭死亡。第二例为2月龄女性，患有双侧冠状缝早闭、梗阻性脑积水和短头畸形。入院后不久进行了V-P分流术，1个月后进行了双侧外眦推进联合浮动前额手术。她仍存活且发育良好。
ABS的主要异常可分为4类：颅面、骨骼、肢体和泌尿生殖系统异常。它们可能是成纤维细胞生长因子受体2（Ser351Cys）基因突变的结果，这在我们的病例2中得到了证实。颅骨缝早闭合并脑积水导致先天性颅内压升高（IICP）。应尽早进行早期V-P分流植入以及闭合缝线的手术松解和外眦推进，理想情况是在患者3个月龄之前。
对我们的一名患者进行颅骨缝早闭的早期矫正可行且安全。我们提供了治疗脑积水和矫正颅骨缝早闭以缓解IICP的经验。
