Journal Name:
- Indian Journal of Basic & Applied Medical Research
Key Words:
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Abstract (2. Language):
Bardet biedl syndrome (BBS) is a rare, genetic disorder with involvement of multiple systems and wide spectrum of clinical
features. It is also known as Laurence-Moon syndrome (LMS). Characteristic features of this disorder are cone-rod
dystrophy, postaxial polydactyly, truncal obesity, kidney abnormalities and learning difficulties. It may also be associated
with diminished size and decreased function of the testes in males (hypogonadism) and complex genitourinary abnormalities
in females. Bardet-Biedl syndrome is inherited mostly as an autosomal recessive trait. It affects males and females equally.
This syndrome is usually diagnosed in childhood based upon thorough clinical evaluation and detection of characteristic
findings (e.g., visual problems due to retinal dystrophy, obesity, polydactyly). Genetic testing may assist in diagnosing the
disorder in selected cases (e.g., individuals with certain BBS1 and BBS10 gene mutations). The treatment of Bardet-Biedl
syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the
coordinated efforts of a team of specialists. We present a case of 10yrs female patient with Bardet Biedl syndrome
presenting in medicine department with vague abdominal pain, learning difficulties, obesity, decreased night vision and
polydactyly. On investigations she had type IV Choledochal cyst & left mild hydronephrosis.
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