Síndrome de osteoporosis con pseudoglioma

  1. J. Fleta Zaragozano 1
  2. F. Ramos Fuentes 1
  3. G. Bueno Lozano 1
  4. I. Bueno Martínez 1
  5. J. L. Olivares López 1
  1. 1 Hospital Clínico Universitario Lozano Blesa
    info

    Hospital Clínico Universitario Lozano Blesa

    Zaragoza, España

    ROR https://ror.org/03fyv3102

Journal:
Boletín de la Sociedad de Pediatría de Aragón, La Rioja y Soria

ISSN: 1696-358X

Year of publication: 2015

Volume: 45

Issue: 2

Pages: 55-57

Type: Article

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More publications in: Boletín de la Sociedad de Pediatría de Aragón, La Rioja y Soria

Abstract

Pseudoglioma osteoporosis syndrome in an autosomal recessive disease caused by a defect in the gene LRP5 located. It is an ocular with osteogenesis imperfecta. We report the case of a 9-year-old with motor retardation, blindness, and generalized aches, who also suffered from two broken bones when he was 4 years old. The scan shows pondoestatural delay, microphthalmia, cataracts, walleye bilateral entropion in both eyes and microcephaly. The study objective radiological osteopenia and MRI brain important one enlarged cisterna magna, as a sign not described in this syndrome. The genetic study shows an alteration of the gene LRP5. Treatment with bisphosphonates and growth hormone has been satisfactory.

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