Giakoumettis D, Vogiatzoglou T, Vavoulis G, Almasarwah B, Tilidou K, Tsitlakidis A, Vlachos K
Neurosurgical Department, "KAT" General Hospital of Athens, Greece.
Hematological Department, "KAT" General Hospital of Athens, Greece.
Brain Spine. 2024 Nov 29;4:104149. doi: 10.1016/j.bas.2024.104149. eCollection 2024.
Klippel-Trenaunay Syndrome (KTS) is a rare congenital condition characterized by vascular malformations, bone abnormalities, and limb overgrowth. The genetic basis of KTS is not fully understood, and the diagnosis relies on clinical features. Its clinical spectrum includes several neurosurgical diagnoses, such as cavernous hemangiomas, arteriovenous fistulas, and Chiari I malformation.
This study investigates the neurological complications associated with KTS, focusing on its coexistence with Chiari I malformation and other neurosurgical entities, through a systematic review and a case report.
A 27-year-old woman with KTS and Chiari I malformation presented with progressive tetraparesis and cranial nerve deficits. Emergency foramen magnum decompression had to be undertaken despite significant coagulation abnormalities. Despite her post-operative period being complicated by splenic rupture requiring splenectomy, she demonstrated gradual neurological recovery.
The patient presented with a significant neurological improvement at her 3-month follow-up, being able to walk independently with a stick. A systematic review of the Pubmed database identified 55 patients with KTS requiring neurosurgical attention. The most common pathology was vascular malformations, followed by CNS tumors, whereas Chiari malformation was rare.
The study highlights the challenges of managing patients with KTS and Chiari I malformation, emphasizing the importance of early diagnosis, through preoperative evaluation and interdisciplinary care. Emergency surgery in KTS patients with neurological deterioration, though high risk, can improve outcomes with careful coordination among neurosurgeons, hematologists, and internists. The rare association of Chiari I malformation with KTS underscores the need for vigilance and a tailored approach to care.
克-特综合征（KTS）是一种罕见的先天性疾病，其特征为血管畸形、骨骼异常和肢体过度生长。KTS的遗传基础尚未完全明确，诊断主要依赖临床特征。其临床谱包括多种神经外科诊断，如海绵状血管瘤、动静脉瘘和Chiari I畸形。
本研究通过系统综述和病例报告，调查与KTS相关的神经并发症，重点关注其与Chiari I畸形及其他神经外科疾病的共存情况。
一名患有KTS和Chiari I畸形的27岁女性出现进行性四肢轻瘫和颅神经功能缺损。尽管存在明显的凝血异常，仍不得不进行急诊枕骨大孔减压术。尽管术后因脾破裂需要行脾切除术而使病情复杂化，但她仍表现出逐渐的神经功能恢复。
患者在3个月随访时神经功能有显著改善，能够拄着拐杖独立行走。对PubMed数据库的系统综述确定了55例需要神经外科治疗的KTS患者。最常见的病理类型是血管畸形，其次是中枢神经系统肿瘤，而Chiari畸形较为罕见。
该研究突出了管理KTS和Chiari I畸形患者的挑战，强调了通过术前评估和多学科护理进行早期诊断的重要性。KTS患者出现神经功能恶化时进行急诊手术虽风险高，但通过神经外科医生、血液科医生和内科医生之间的仔细协作可改善预后。Chiari I畸形与KTS的罕见关联凸显了警惕和采取个性化护理方法的必要性。
