Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population

Abstract

Laurence Moon Bardet Biedl syndrome is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as mental retardation, decreased visual acuity, obesity, hypogonadism, and polydactyly. The diagnosis of this syndrome is easily overlooked due to its rarity, with a prevalence rate of one in 125,000-160,000 reported within Europe. Delayed diagnosis and inappropriate management may lead to an irreversible loss of functions. The most significant of these losses include loss of vision, cardiac problems, and renal abnormalities. These dysfunctions critically impact the mental faculties and personal life of a patient. Our case presented with striking features of this syndrome, but due to a lack of awareness, her family was not adequately counseled. Both the family and the patient were not equipped with the necessary knowledge regarding the nature of her disease and its prognosis. The patient was mismanaged and kept ignorant of the importance of a proper follow-up. This necessitates a multidisciplinary team approach towards such cases so that their disease can be adequately managed. The early diagnosis and symptomatic management of complications as they arise remain the most important and vital step in the management of this illness. We hope that our case sheds further light on the existing knowledge of this syndrome.

Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective

“…Symptoms in BBS patients appear in the first 10 years of their life, with a chief complaint of poor night vision, nystagmus, photophobia, and blurring in central vision. This is the result of rod-cone photoreceptors dystrophy which is sometimes called atypical retinitis pigmentosa [ 4 , 9 ]. Our patient presented complaining of poor vision for two years, especially worsen at night.…”

A case of Laurence Moon Bardet Biedl syndrome

“…Regular screening for hypertension, diabetes, cardiac and renal involvement. 8 Rehabilitation for mentally retarded and vision loss patients. Consanguineous marriages are associated with LMBBS, so awareness of consequences of consanguineous marriages should be done.…”

Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review

“…Therefore, a detailed genetic analysis needs to be done to differentiate the syndromes through mutation in molecular sequence and resolve the dispute of an accurate diagnosis. Due to limited funds, we were unable to go for this analysis, which is why we regarded our patient as Laurence-Moon-Bardet-Biedl syndrome - a globally acquired label to elucidate the illness [ 1 ].…”

“…Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive genetic disorder, tends to bring about an array of multiorgan detrimental manifestations [ 1 ]. LMBBS patients may encounter deteriorating functions of the brain, eyes, kidneys, hands, and feet.…”