Article not rated

Vol. 23 - Num. 91

Clinical Reviews

Pseudogliomatous osteoporosis syndrome: association of blindness with multiple fractures

Juan Ramón y Cajal Calvoa, Ramón Ortiz Giméneza, Marta Zamora Lozanob

aServicio de Radiodiagnóstico. Hospital Clínico Universitario Lozano Blesa. Zaragoza. España.
bSección de Traumatología y Cirugía Ortopédica Infantil. Hospital Clínico Universitario Lozano Blesa. Zaragoza. España.

Correspondence: J Ramón y Cajal. E-mail: jramonycajalc@gmail.com

Reference of this article: Ramón y Cajal Calvo J, Ortiz Giménez R, Zamora Lozano M. Pseudogliomatous osteoporosis syndrome: association of blindness with multiple fractures. Rev Pediatr Aten Primaria. 2021;23:309-12.

Published in Internet: 27-09-2021 - Visits: 343

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 Genetics Multiple fractures Osteoporosis

 

Comments

This article has no comments yet.