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

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.