Department of Neurosurgery, Torrecárdenas Hospital Complex, Almería, Spain.
Department of Neurosurgery, Torrecárdenas Hospital Complex, Almería, Spain.
World Neurosurg. 2018 Jun;114:37-42. doi: 10.1016/j.wneu.2018.03.027. Epub 2018 Mar 9.
The polymalformative syndromes and craniofacial anomalies association is a well-known phenomenon in patients with Crouzon, Pfeiffer, Apert, or Muenke disease. Recently, other less frequent pathologies, such as Alagille syndrome, have shown an association with alterations in the development of cranial sutures, resulting in serious cosmetic defects and neurologic disorders.
We report an exceptional case of a 30-month-old girl, a nephroblastoma survivor diagnosed with Alagille syndrome, who was referred to our department with progressive anterior plagiocephaly and premature left coronal suture closure associated with a large compensating right bossing. Despite the patient's age, we offered aggressive surgical treatment performing a new forehead harvested from the skull vertex with orbital rim reconstruction.
Alagille syndrome is a complex multisystem pathology with a poor craniosynostosis association and only 3 cases have been described in the literature.
颅缝早闭症和颅面畸形综合征是 Crouzon、Pfeiffer、Apert 或 Muenke 病患者中一种众所周知的现象。最近，其他不太常见的疾病，如 Alagille 综合征，也表现出与颅缝发育异常相关，导致严重的美容缺陷和神经障碍。
我们报告了一个特殊的病例，一个 30 个月大的女孩，她是一个肾母细胞瘤幸存者，被诊断为 Alagille 综合征，因进行性前斜头畸形和左侧冠状缝过早闭合，伴有代偿性右侧颅骨隆起而被转诊至我们科室。尽管患者年龄较大，我们仍采用激进的手术治疗方法，从颅顶采集新的额部组织，并进行眶缘重建。
Alagille 综合征是一种复杂的多系统疾病，与颅缝早闭症的关联较差，文献中仅描述了 3 例。
