My SciELO
Services on Demand
Journal
Article
Indicators
Cited by SciELO
Access statistics
Related links
Cited by Google
Similars in SciELO
Similars in Google
Share
Pediatría Atención Primaria
Print version ISSN 1139-7632
Abstract
RAMON-Y CAJAL-CALVO, Juan; ORTIZ-GIMENEZ, Ramón and ZAMORA-LOZANO, Marta. Pseudogliomatous osteoporosis syndrome: association of blindness with multiple fractures. Rev Pediatr Aten Primaria [online]. 2021, vol.23, n.91, pp.309-312. Epub Feb 06, 2023. ISSN 1139-7632.
Abstract
Primary osteoporosis contains a compendium of emerging etiologies and can occur syndromically. The association of multiple bone fractures with the presence of congenital retinal folds should guide the diagnosis of osteoporosis-pseudogliomatous syndrome.
It is a rare autosomal recessive disorder characterized by severe osteoporosis and early-onset blindness. Loss-of-function mutations in the gene encoding low-density lipoprotein receptor (LRP5), related protein 5 appear to be responsible for the onset of this disease.
We present a case of a child with bilateral hyperplastic vitreous and a history of fractures whose clinical, biochemical and genetic studies confirm the diagnosis of this unusual pathology.
Keywords : Blindness; Multiple fractures; Genetics; Osteoporosis.