LAURENCE MOON-BARDET BIEDL SYNDROME: A CASE REPORT OF A YOUNG FEMALE

Laurence Moon-Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder that mainly affects the limbs and eyes, with symptoms typically appearing during early childhood. The condition, like most other cases with an autosomal recessive genetic pattern, results from consanguineous marriage. The primary features of this syndrome include cone-rod dystrophy, polydactyly, obesity, learning disabilities, hypogonadism, renal anomalies, nystagmus, speech disorders, developmental delay, polyuria/polydipsia, ataxia, and poor coordination/clumsiness.

Diagnosing LM-BB syndrome involves careful clinical observation, and in 80% of cases, confirmation can be obtained through gene sequencing of known disease-causing genes. BBS genes encode proteins that play a crucial role in cilia biogenesis and function, localizing to the cilia and basal body. Mutations in these genes lead to defective cilia, which contribute to the diverse range of effects observed in individuals with LM-BBS.     

We report a case of 13-year-old girl with all five recognised features of Laurence moon -Bardet Beidel syndrome: pigmentary retinopathy, polydactyly, obesity, mental retardation and hypogonadism. The patient presented with fatigue lasting for the last two weeks. Upon testing, her blood work revealed severe anemia, which was treated accordingly and found to be linked to poor food intake.