Tethered cord syndrome in a paediatric patient with KBG syndrome

KBG syndrome is a rare genetic condition caused by ANKRD11 mutations, often presenting with distinctive syndromic features, including macrodontia and skeletal anomalies. This case highlights a teenage boy with KBG syndrome presenting with tethered cord syndrome (TCS)-a progressive condition where spinal cord fixation restricts movement-causing motor, sensory and urological symptoms.The patient presented with leg stiffness, gait changes and bowel and bladder symptoms, initially misdiagnosed as catatonia. Genetic testing confirmed KBG syndrome and further family-led research suggested TCS. Targeted MRI revealed a low-lying conus medullaris and thickened filum terminale, supporting the clinically suspected diagnosis. Surgical detethering led to complete symptom resolution, allowing the patient to resume normal activities.This case demonstrates a detailed symptomatic presentation of TCS in KBG syndrome, which underscores the importance of recognising such associations. Clinicians should consider dynamic imaging and early intervention to prevent long-term morbidity in similar patients.