Multisystemic presentation of Klippel-Feil syndrome with dextrocardia and right lung hypoplasia

A woman in late adolescence presented with numbness and tingling in both upper limbs and exertional dyspnoea. Clinical examination and imaging confirmed Klippel-Feil Syndrome (KFS) with multiple cervical vertebral fusions, Sprengel's deformity, right lung hypoplasia and dextrocardia. Initial management with bronchodilators and cardiopulmonary rehabilitation led to symptomatic improvement. However, on follow-up, the patient developed progressive respiratory symptoms, and subsequent investigations revealed pulmonary tuberculosis. Despite the initiation of anti-tubercular therapy, her condition deteriorated, and she unfortunately succumbed to complications. This case illustrates a rare and severe multisystemic presentation of KFS and highlights the importance of thorough evaluation, long-term surveillance and vigilance for opportunistic infections in patients with congenital thoracic anomalies.