Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

• Published in: Journal of medical case reports Vol. 5; no. 1; p. 378
• Main Authors: Mihai, Cristina M, Marshall, Jan D, Stoicescu, Ramona M
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 15-08-2011; BioMed Central; BMC
• Subjects: Bardet-Biedl syndrome; Care and treatment; Case Report; Case studies; Diagnosis; Kidney diseases; Ultrasound imaging; Romania
• ISSN: 1752-1947; 1752-1947
• DOI: 10.1186/1752-1947-5-378

Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature.
We present the case of a four-year-old Romanian boy who presented to our department with 'febrile seizures'. After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. He met the major and minor criteria for the diagnosis of Bardet-Biedl syndrome and underwent continuous ambulatory peritoneal dialysis.
Close follow-up for renal involvement in patients with Bardet-Biedl syndrome and Alström syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately.