Novel presentation of Takayasu arteritis in a young girl: severe dystonia, stroke and left ventricular thrombus

Takayasu arteritis (TAK) is a rare, chronic large-vessel vasculitis that primarily affects young females. Neurological and cardiac involvement in paediatric TAK is uncommon, and their concurrent occurrence is even rarer. We report a unique case of TAK in a girl in middle childhood who presented with progressive abdominal distension, right-sided hemiparesis, right upper limb dystonia and right-sided upper motor neuron (UMN) facial palsy. Over the preceding 6 months, she experienced recurrent episodes of cough, dyspnoea, lower limb pain and abdominal discomfort. Examination revealed cold extremities, markedly diminished lower limb pulses and relatively preserved upper limb pulses. Measurement of blood pressure in all 4 limbs demonstrated significant discrepancies. Imaging studies revealed severe stenosis of the lower thoracic aorta on CT angiography, a large left ventricular thrombus with global hypokinesia on echocardiography and basal ganglia infarction on brain MRI. A diagnosis of TAK was established based on the European Alliance of Associations for Rheumatology (EULAR) criteria, with an Indian Takayasu Clinical Activity Score 2010 (ITAS 2010) of 16. Treatment included corticosteroids, low molecular weight (LMW) heparin, enalapril, aspirin and warfarin. The patient demonstrated marked clinical improvement, including complete resolution of dystonia and facial palsy, along with normalisation of cardiac function at follow-up. This case highlights an unusual presentation of paediatric TAK with concurrent stroke, heart failure and a large left ventricular thrombus. To the best of our knowledge, dystonia as a presenting feature of cerebral ischaemia in paediatric TAK has not been previously reported. This case underscores the importance of early recognition and management of atypical neurovascular features in childhood vasculitis.