Laurence Moon Bardet Biedl Syndrome.
A 14 year old Bangladeshi boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and undescended testes. Retinitis pigmentosa was found on fundoscopy. With typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Biedl syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males and renal dysfunction. Relatives with a single affected gene may have obesity, hypertension, diabetes and renal disease. There is increased risk of renal cell carcinoma. There is no definite treatment. Early diagnosis and symptomatic, supportive and rehabilitative measures can reduce the disability. These include dietary modification, oral hypoglycaemic drugs, testosterone supplement etc. Relatives of the patient should be screened for renal abnormality.
Abdulla
A B
AB
Department of Medicine, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka, Bangladesh.
Niloy
Ahmed Al Muntasir
AA
Shah
Tazin Afrose
TA
Biswas
Sunil Kumar
SK
Imran
A Khan
AK
Murshed
Khaled Mahbub
KM
Ahmed
Mashrafi
M
D000293:Adolescent; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis*; D002658:Developmental Disabilities; D006801:Humans; D008607:Intellectual Disability; D007859:Learning Disabilities; D008297:Male; D009767:Obesity, Morbid; D017689:Polydactyly