Congenital single kidney in tuberous sclerosis complex (Bourneville disease)

Abstract

Introduction: Bournevile disease is a rare global condition that presents a diagnostic challenge due to its diverse multisystemic involvement.

Case presentation: This report presents the case of a 14-year-old male with a medical history of congenital single kidney, heart rate abnormalities, Bournevile disease with cognitive deficits, brain lesions, and dermatological features. The patient presented with sudden onset renal angiolipomatosis, and the diagnosis was based on specific computed tomography (CT) findings. Despite having these complex medical conditions, the patient had never been admitted to the hospital since infancy, and treatment was limited to surveillance only.

Clinical discussion: Bourneville disease is a multisystemic disease that affects several organ systems within the human body and thus demands multidisciplinary approach in the treatment and follow-up options.

Conclusion: This case report highlights Bournevile disease in a patient with a congenital single kidney, a rare finding that further complicates the disease. It emphasises the importance of recognising and managing this condition to ensure appropriate care for affected individuals.

Keywords: Case report; bourneville disease; renal angiolipomatosis; single kidney; tuberous sclerosis.