Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report
Abstract Background Bardet–Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex. This complex is essential for ciliary function and cellular signaling. It has multisystem...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
|
| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-025-05455-0 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849343488947126272 |
|---|---|
| author | Adithya Andanappa Sai Santhosha Mrudula Alla Aparna Malireddi Prajwal Udedh Hanisha Reddy Kukunoor Deekshitha Alla Uday Kumar Repalle Bhanu Prasad Kosuru Soujanya Tirupati Ruth Getaneh Bayeh |
| author_facet | Adithya Andanappa Sai Santhosha Mrudula Alla Aparna Malireddi Prajwal Udedh Hanisha Reddy Kukunoor Deekshitha Alla Uday Kumar Repalle Bhanu Prasad Kosuru Soujanya Tirupati Ruth Getaneh Bayeh |
| author_sort | Adithya Andanappa |
| collection | DOAJ |
| description | Abstract Background Bardet–Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex. This complex is essential for ciliary function and cellular signaling. It has multisystem involvement and presents with a variety of phenotypes. Case Presentation A 30-year-old adult male patient, Indian by ethnicity, presented with a 2-week history of ascites and dyspnea. The ascitic fluid analysis confirmed abdominal tuberculosis. However, the patient showed other symptoms and signs of a syndromic nature. The patient has been entirely blind since the age of 9 years, with confirmed retinitis pigmentosa. The other complaints were progressive weight gain and cognitive impairment. Examination showed central obesity, almond-shaped eyes, moon-shaped face, and hexadactyly in the left lower limb. Liver functional tests, renal function tests, lipid profile, and ultrasonography of the abdomen were abnormal. Beales diagnostic criteria confirmed Bardet–Biedl syndrome. The patient was treated for abdominal tuberculosis, and psychosocial support and nutritional counseling were provided. Conclusion Effective treatment of Bardet–Biedl syndrome requires genetic counseling and a personalized care plan that includes a multidisciplinary team, regular monitoring, and supportive services such as neuropsychological and psychiatric care and family support. This case also increases clinicians’ awareness of the presentation of Bardet–Biedl syndrome and the diagnosis in settings without advanced diagnostic modalities. |
| format | Article |
| id | doaj-art-e71bd6577ccf45168bd172cef18597b0 |
| institution | Kabale University |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-e71bd6577ccf45168bd172cef18597b02025-08-20T03:42:57ZengBMCJournal of Medical Case Reports1752-19472025-08-011911510.1186/s13256-025-05455-0Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case reportAdithya Andanappa0Sai Santhosha Mrudula Alla1Aparna Malireddi2Prajwal Udedh3Hanisha Reddy Kukunoor4Deekshitha Alla5Uday Kumar Repalle6Bhanu Prasad Kosuru7Soujanya Tirupati8Ruth Getaneh Bayeh9Mysore Medical College and Research InstituteAndhra Medical CollegeAndhra Medical CollegeMVJ Medical College and Research HospitalMaheshwara Medical CollegeAndhra Medical CollegeDr Pinnamaneni Siddhartha Institute of Medical Sciences and Research FoundationAndhra Medical CollegeNarayana Medical CollegeAdama General Hospital and Medical CollegeAbstract Background Bardet–Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex. This complex is essential for ciliary function and cellular signaling. It has multisystem involvement and presents with a variety of phenotypes. Case Presentation A 30-year-old adult male patient, Indian by ethnicity, presented with a 2-week history of ascites and dyspnea. The ascitic fluid analysis confirmed abdominal tuberculosis. However, the patient showed other symptoms and signs of a syndromic nature. The patient has been entirely blind since the age of 9 years, with confirmed retinitis pigmentosa. The other complaints were progressive weight gain and cognitive impairment. Examination showed central obesity, almond-shaped eyes, moon-shaped face, and hexadactyly in the left lower limb. Liver functional tests, renal function tests, lipid profile, and ultrasonography of the abdomen were abnormal. Beales diagnostic criteria confirmed Bardet–Biedl syndrome. The patient was treated for abdominal tuberculosis, and psychosocial support and nutritional counseling were provided. Conclusion Effective treatment of Bardet–Biedl syndrome requires genetic counseling and a personalized care plan that includes a multidisciplinary team, regular monitoring, and supportive services such as neuropsychological and psychiatric care and family support. This case also increases clinicians’ awareness of the presentation of Bardet–Biedl syndrome and the diagnosis in settings without advanced diagnostic modalities.https://doi.org/10.1186/s13256-025-05455-0Bardet–Biedl syndromeBBSBeales diagnostic criteriaCase report |
| spellingShingle | Adithya Andanappa Sai Santhosha Mrudula Alla Aparna Malireddi Prajwal Udedh Hanisha Reddy Kukunoor Deekshitha Alla Uday Kumar Repalle Bhanu Prasad Kosuru Soujanya Tirupati Ruth Getaneh Bayeh Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report Journal of Medical Case Reports Bardet–Biedl syndrome BBS Beales diagnostic criteria Case report |
| title | Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report |
| title_full | Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report |
| title_fullStr | Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report |
| title_full_unstemmed | Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report |
| title_short | Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report |
| title_sort | incidental diagnosis of bardet biedl syndrome in a case of abdominal tuberculosis a case report |
| topic | Bardet–Biedl syndrome BBS Beales diagnostic criteria Case report |
| url | https://doi.org/10.1186/s13256-025-05455-0 |
| work_keys_str_mv | AT adithyaandanappa incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport AT saisanthoshamrudulaalla incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport AT aparnamalireddi incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport AT prajwaludedh incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport AT hanishareddykukunoor incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport AT deekshithaalla incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport AT udaykumarrepalle incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport AT bhanuprasadkosuru incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport AT soujanyatirupati incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport AT ruthgetanehbayeh incidentaldiagnosisofbardetbiedlsyndromeinacaseofabdominaltuberculosisacasereport |