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Clinical Reviews

Pseudogliomatous osteoporosis syndrome: association of blindness with multiple fractures

Authors:

Ramón y Cajal Calvo Ja, Ortiz Giménez Rb, Zamora Lozano Mc

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

Correspondence: J Ramón y Cajal. Email: jramonycajalc@gmail.com

Reference of this article.:

Ramón y Cajal Calvo J, Ortiz Giménez R, Zamora Lozano M. Síndrome de osteoporosis pseudogliomatosa: asociación de ceguera con fracturas múltiples. Rev Pediatr Aten Primaria. 2021;23:309-12.

Published in Internet: 27/09/2021

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: Osteoporosis. Genetics. Multiple fractures. Blindness.


 


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ISSN 2174-4106  Publicación Open Acess, incluida en DOAJ, sin cargo por publicación.

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