BARDET-BIEDL SYNDROME
Journal
Macedonian Journal of Anaesthesia
Date Issued
2025-03-01
Author(s)
Ljumani Bakiji, Lj
Mishoska, M
DOI
10.55302/MJA259194s
Abstract
Abstract
Bardet-Biedl syndrome (BBS) is a genetic and multisystem disease that affects the genitourinary
tract, locomotory system, causes eye anomalies, cognitive disorders and characteristic truncal
obesity. It is caused by mutations in certain genes, namely: BBS1 to BBS21 gene. The approach
to this disease is multidisciplinary.
Material and Methods: We present a 3-years-old female child who was referred to the Clinic
for Pediatric Surgery due to supernumerary toes on both feet. This is postaxial polydactyly.
Intrauterine lobulated kidney structure was observed. The child had problems with her peers
and avoids socializing with them. The following examinations were performed: cardiological,
ophthalmological and genetic. Genetic examinations confirmed the BBS syndrome.
Results: The patient was operated at the clinic for pediatric surgery, the operative and postoperative period were without complications.
Conclusion: BBS is a rare autosomal disease that requires timely detection and appropriate
multidisciplinary treatment. This allows complications to be reduced and the child to be included in everyday activities.
Bardet-Biedl syndrome (BBS) is a genetic and multisystem disease that affects the genitourinary
tract, locomotory system, causes eye anomalies, cognitive disorders and characteristic truncal
obesity. It is caused by mutations in certain genes, namely: BBS1 to BBS21 gene. The approach
to this disease is multidisciplinary.
Material and Methods: We present a 3-years-old female child who was referred to the Clinic
for Pediatric Surgery due to supernumerary toes on both feet. This is postaxial polydactyly.
Intrauterine lobulated kidney structure was observed. The child had problems with her peers
and avoids socializing with them. The following examinations were performed: cardiological,
ophthalmological and genetic. Genetic examinations confirmed the BBS syndrome.
Results: The patient was operated at the clinic for pediatric surgery, the operative and postoperative period were without complications.
Conclusion: BBS is a rare autosomal disease that requires timely detection and appropriate
multidisciplinary treatment. This allows complications to be reduced and the child to be included in everyday activities.