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      Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan

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          Abstract

          Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive (AR) disorder. It is characterized predominantly by hypogonadism, polydactyly, retinitis pigmentosa, obesity, and mental retardation. Herein, we present a classic case of LMBBS with generalized body edema, abdominal distension, and positive fluid thrill in a 32-year-old male. LMBBS patients are friendly with a happy predisposition, proper management, and regular examinations should be done in order to maintain healthy organ function and to avoid an early death. Renal failure is the most common cause of mortality in LMBBS patients.

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          Exploring the molecular basis of Bardet-Biedl syndrome.

          James R. Lupski, N Katsanis, Ian Beales (2001)
          Few autosomal recessive disorders display the degree of pleiotropism and genetic heterogeneity found in Bardet-Biedl syndrome (BBS), a genetic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, cognitive impairment and gonadal and renal dysgenesis. This relatively rare condition has been reported frequently, but we have only recently begun to appreciate the genetic complexities that give rise to this constellation of clinical findings. During the last 12 months, the first three of at least six BBS genes have been identified, providing us for the first time with the ability to formulate hypotheses regarding the molecular etiology of the disorder. Here we review the key elements of the phenotype and discuss the significance of the discovery of the first three BBS genes on the effort to identify the cellular causes of this syndrome.
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            Hypokalemic paralysis and megaloblastic anaemia in Laurence-Moon-Bardet-Biedl syndrome.

            Amanullah Abbasi, Nazish Butt, Baseer Sultan … (2009)
            Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous autosomal recessive disorder, characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological features. Herein, 2 patients with Laurence-Moon-Bardet-Biedl syndrome are described, who had features of persistent hypokalemia and megaloblastic anemia.
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              Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.

              Julie Sapp, Darryl Y. Nishimura, Jennifer J Johnston … (2010)
              Bardet-Biedl syndrome is a pleiotropic multiple anomaly syndrome inherited in an autosomal recessive pattern. It is now known that this disorder has locus heterogeneity, with causative mutations identified in as many as 14 genes. The aim of this study was to derive locus-specific recurrence risk estimates for family members of a proband affected with Bardet-Biedl syndrome.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Cureus
                Journal ID (iso-abbrev): Cureus
                Journal ID (issn): 2168-8184
                Title: Cureus
                Publisher: Cureus (Palo Alto (CA) )
                ISSN (Electronic): 2168-8184
                Publication date (Electronic, pub): 11 June 2019
                Publication date (Electronic, collection): June 2019
                Volume: 11
                Issue: 6
                Affiliations
                [1 ] Internal Medicine, Dow University of Health Sciences (DUHS), Karachi, PAK
                Author notes
                Article
                DOI: 10.7759/cureus.4885
                PMC ID: 6720159
                SO-VID: fb3ef958-357e-4979-ae64-34bce0758e52
                Copyright statement: Copyright © 2019, Qadar et al.
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                Product
                Self URI: This article is available from https://www.cureus.com/articles/20461-laurence-moon-bardet-biedl-syndrome-with-coexisting-abdominal-distension-and-positive-fluid-thrill-a-rare-manifestation-reported-in-karachi-pakistan
                Categories
                Subject: Genetics
                Subject: Internal Medicine
                Subject: Nephrology

                Keywords: bardet-biedl syndrome,chronic kidney disease,retinitis pigmentosa,polydactyly,central obesity,consanguineous marriage,congenital disorder,positive fluid thrill,abdominal distension
                Data availability:
                Keywords: bardet-biedl syndrome, chronic kidney disease, retinitis pigmentosa, polydactyly, central obesity, consanguineous marriage, congenital disorder, positive fluid thrill, abdominal distension

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