Bardet-Biedl Syndrome: A Rare Case Report
Journal Title: Scholars Journal of Medical Case Reports - Year 2014, Vol 2, Issue 4
Abstract
Abstract: The Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, post-axial polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Its presentation with type 1 diabetes mellitus is a rare manifestation. We report a case of Bardet-Biedl syndrome presenting with type1 diabetes mellitus. Keywords: inherited disorder, diabetes mellitus, Bardet-Biedl syndrom
Authors and Affiliations
Rajkumar . , Revana Siddappa H. G, Praveen Kumar AS, Sanjay Reddy, Y. J. V Reddy
Keywords
Related Articles
- EP ID EP375489
- DOI -
- Views 71
- Downloads 0
Spontaneous Ovarian Heterotopic Pregnancy at 12 Weeks of Gestation: A Rare Case Report
Ovarian heterotopic pregnancy is a rare diagnosis with few reported cases. Extremely rare among women who conceive naturally, the occurrence of an ovarian heterotopic pregnancy is a singular event as it comprises only 2....
Association of rheumatoid arthritis with pernicious anemia and GougerotSjogren syndrome: report of a case
Rheumatoid arthritis (RA) is a chronic rheumatic disease that may be associated with iron deficiency or anemia of inflammation. Few autoimmune anemias have been described in association with RA.We report, through this ob...
Management of Case of Acromegaly for Emergency Exploratory Laparotomy for Intestinal Obstruction
Acromegaly is rare disorder caused by either excessive secretion of growth hormone or pituitary adenoma secreting excess growth hormone. Enlargement of face, tongue and mandible with involvement of soft tissues and conne...
Case Report of Pediatric Autoimmune Neuropsychiatric Disorder Associated with Group A Streptococcus
Pediatric Autoimmune Neuropsychiatric Disorder associated with group A Streptococcus (PANDAS) is a term used to describe a subset of children whose symptoms of obsessive compulsive disorder (OCD) or tic disorders are exa...
Vascular Injuries by Ankle Strangulation: A Case Report.
Vascular injuries are a major cause of morbidity and mortality. In this report, we describe the case of a young man with a serious ankle trauma by strangulation causing vascular lesions of the three axes of the leg. This...