Sindroma Laurence-Moon-Bardet-Biedl
ABSTRACT: The purpose of this
case report is to report a case of rare monogenic disease with recessive
autosomal inheritance named Laurence-Moon-Bardet-Biedl syndrome. A 15-year-old
obese boy with decrease vision of both eyes (OU 6/12) especially at night,
accompanied with speech or communication difficulties and learning
disabilities. The examination revealed postaxial polydactyly on his right andleft
fingers and his right toe that has underwent operation. Funduscopy showed
retinitis pigmentosa and severe depression in visual field examination.
Laurence-Moon-Bardet-Biedl syndrome has been suspected in a child with pigment
clumping. Surgical removal of extra fingers and toes has been done that make
difficulty of making diagnose if the examiners are not aware about this
preoperative extra fingers and toes (polydactily).
Key words:
Laurence-Moon-Bardet-Biedl syndrome, retinitis pigmentosa, polydactyly, mental
retardation
Penulis; Hartono, Fitria
Natliani
Kode Jurnal: jpkedokterandd080009
