Klippel-Trenaunay syndrome and chiari I malformation. A case report and systematic review of the literature

Introduction: 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.

Research question: 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.

Methods materials: 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.

Results: 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.

Conclusion: 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.