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Pediatría Atención Primaria
versão impressa ISSN 1139-7632
Resumo
RAMON-Y CAJAL-CALVO, Juan; ORTIZ-GIMENEZ, Ramón e 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 06-Fev-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.
Palavras-chave : Blindness; Multiple fractures; Genetics; Osteoporosis.