| CASE REPORT |
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| Year : 2022 | Volume
: 32
| Issue : 6 | Page : 633-636 |
Bardet–Biedl syndrome presenting in adulthood
Chinmay Ankleshwaria, Bhavik Prajapati, Sarita Parmar, Vraj Rathod, Harsh Patel, Dixit Dhorajiya, Nirav Chavda, Kapil Parmar, Faiz Pathan, Minakshi Chauhan
Department of Internal Medicine, Civil Hospital, Ahmedabad, Gujarat, India
Correspondence Address:
Bhavik Prajapati
C203, Aastha Emerald, Near Neelkanth Mahadev Temple, Behind Rannapark Bus Stand, Naranpura, Ahmedabad – 380 013, Gujarat
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijn.ijn_320_21
Bardet–Biedl syndrome (BBS) is a rare disorder with a frequency of 1:1,60,000. The disease is inherited in an autosomal recessive manner. Less than 15 cases have been reported from India. We present a case of Bardet–Biedl syndrome presenting to the medical emergency with acute breathlessness because of de-compensated renal failure and salient features such as marked polydactyly, central obesity, retinitis pigmentosa, end-stage renal diseases, and mental retardation. Genetic study showed that the patient had BBS genetic variant 9 (MIM#615896), VUS variant. The patient was primarily treated for end-stage chronic renal failure with hemodialysis. We are reporting this case for its rarity and the presence of a novel genetic variant of an unidentified significance as per genome mapping. BBS is often not diagnosed at all or diagnosed late until end-stage renal failure sets in. Timely diagnosis might not help treat the condition but surely improve the quality of life for the patient.
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