Laurence Moon Bardet Biedl Syndrome with Maturity Onset Diabetes of the Young (Mody) - Case Report

    Published on:January 2019
    Journal of Young Pharmacists, 2019; 11(1):114-116
    Case Report | doi:10.5530/jyp.2019.11.25
    Authors:

    Krishna Kumar Dhakchinamoorthi1,*, John Thomas Palathingal1, Saroja Sreenivasan2

    1Departemt of Pharmacy Practice, C.L. Baid Metha College of Pharmacy, Chennai, Tamil Nadu, INDIA.

    2Department of Diabetology, Voluntary Health Services Hospital, Adyar, Chennai, Tamil Nadu, INDIA.

    Abstract:

    Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an inherited genetic condition combination of two distinct disorders: Biedl-Bardet syndrome (BBS) and Laurence-Moon syndrome (LMS). BBS is characterized by polydactyly fingers or toes, obesity, renal failures and learning difficulties. The clinical signs of this condition vary among affected person, most person with Bardet-Biedl syndrome also develop a blurred central vision. LMS is a rare condition that may include cerebellar ataxia; vision abnormalities due to peripheral neuropathy; spastic paraplegia and intellectual disability. The cardinal clinical features include retinitis pigmentosa, obesity, polydactyly and hypogenitalism. The clinical complications significantly vary among differently affected siblings, include obesity, type 2 diabetes, elevated blood pressure and elevated cholesterol levels (hypercholesterolemia), renal complications, hypopituitarism; and short stature. This case study is first to report maturity-onset diabetes of the young (MODY) in Laurence- Moon-Bardet-Biedl syndrome among two south Indian patients.

    Key words: Laurence-Moon-Bardet-Biedl Syndrome, MODY, Diabetes.

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