Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient

Klippel-Feil syndrome (KFS) is a rare congenital disorder characterised by the fusion of the cervical vertebrae. We report the case of an early adolescent patient who presented with acute dizziness, vomiting, slurred speech and left-sided hemiparesis following neck movements. Imaging revealed craniocervical anomalies (including atlanto-occipital assimilation and C2-C3 fusion) and severe vertebrobasilar artery stenosis/occlusion, which led to acute ischaemic infarcts in the cerebellum and pons. Notably, the patient lacked the classical short-neck phenotype. The patient was diagnosed with KFS and a posterior circulation stroke. The patient showed significant improvement with antiplatelet therapy, anticoagulation and rehabilitation. This case underscores the fact that KFS can present with life-threatening stroke even in the absence of typical clinical features, highlighting the importance of early imaging and a multidisciplinary approach.