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 73
- Downloads 0
Basal cell adenocarcinoma of submandibular gland mimicking a vascular mass – An unusual presentation of a rare tumor
Abstract: Basal cell adenocarcinoma (BCAC), the malignant counterpart of basal cell adenoma, is a rare salivary gland neoplasm, the most common site being parotid gland. It has been classified as a low-grade tumor with a...
Implementation of Functionally Generated Path Technique in Fabrication of a Balanced Complete Denture Prosthesis: A Case Report
The treatment of the edentulous state is one of the most challenging to the dental practitioner. The conventional complete dentures are the most common treatment option for rehabilitation of the edentulous state. Occlusa...
Long Term Follow-Up in a Female Patient with X-Linked Juvenile Retinoschisis Resulted from Consanguineous Marriage
Abstract: Female patients with X-linked juvenile retinoschisis were extremely rare. Over 40 years ago, a female patient from a consanguineous marriage was reported in our institute. We present long term follow-up of this...
A Case of Pulmonary Edema Induced by Hanging
A 47-year-old female committed suicides by hanging in the barn. When emergency medical technicians (EMTs) arrived at the scene, she was in cardiopulmonary arrest and initial rhythm was asystole. On arrival, she had a pl...
Accidental Diagnosis of Alkaptonuria in a Suspected Case of Mucopolysaccharidosis
Alkaptonuria is a very rare genetic disorder characterized by the lack of enzyme homogentisate oxidase in tyrosine metabolism. This leads to the accumulation of homogentisic acid in cells and body fluids. The clinical fe...