Downloads: 4 | Views: 86 | Weekly Hits: ⮙1 | Monthly Hits: ⮙2
Case Studies | Medicine | India | Volume 12 Issue 3, March 2023
Laurence - Moon - Bardet - Biedl Syndrome - A Case Report
Dr. Abhinav Wankhede | Dr. Tilottama Parate [4] | Dr. Teena Gupta | Dr. Yogesh Sidam | Dr. Varada Ghadge
Abstract: Laurence - Moon - Bardet - Biedl syndrome (LMBBS), a rare autosomal recessive defect, mostly occurs in children born from consanguineous marriages. The features of this syndrome are obesity, hypogonadism, rod and cone dystrophy likely retinitis pigmentosa, polydactyly, nystagmus, intellectual disability, polydipsia/polyuria and clumsiness. In this case report, we present a case of 14 - years - old male child came with complaint of rapid weight gain in last 2 months and pain in abdomen since last 5 days. On examination, he was found to have diminution of vision and had multiple itchy hyperpigmented macules over trunk and abdomen, hexadactyly, central obesity and polydipsia. Fundus examination revealed rod - cone dystrophy in the form of retinitis pigmentosa and absent pubic, axillary and facial hair indicating hypogonadism. The patient was diagnosed with LMBBS.
Keywords: obesity, hypogonadism, retinitis pigmentosa, endocrine, polydactyly
Edition: Volume 12 Issue 3, March 2023,
Pages: 1357 - 1359