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. 2020 Jul-Sep;15(3):334-335.
doi: 10.4103/jpn.JPN_107_20. Epub 2020 Nov 6.

Osteoporosis Pseudoglioma Syndrome

Vykuntaraju K Gowda  1 , Hemadri Vegda  1 , Sanjay K Shivappa  2 , Naveen Benakappa  1
Affiliations

Osteoporosis Pseudoglioma Syndrome

Vykuntaraju K Gowda et al. J Pediatr Neurosci. 2020 Jul-Sep.

Abstract

Osteoporosis pseudoglioma syndrome is characterized by intellectual disability, osteoporosis of bones and eye abnormalities. We report, a 14-year-old female child presented with walking difficulty with frequent falls followed by deformity of left leg. On examination, bilateral micropthalmia, microcornea, corneal clouding, vitreo-retinal detachment, and atrophic irises. She had deformity of left lower limb, anterior bowing of both tibia, lax skin, hyperextensible joints. Skeletal survey showed severe osteoporosis with fracture of left femur and fish mouth vertebra. She had normal serum calcium, phosphorus, and alkaline phosphatase levels. Targeted next generation testing revealed homozygous pathogenic variant in exon 6 at c.1096G>A/p.V366 M and confirmed by Sanger sequencing. Early diagnosis and treatment are helpful in preventing further fractures and osteoporosis.

Keywords: Intellectual disability; osteoporosis; pseudoglioma.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(A) Microphthalmia, microcornea, and corneal clouding. (B) Bowing of both lower limbs left more than right. (C) Fracture of shaft of left femur and severe thinning of bones. (D) Bowing of tibia with fracture of lower end of shaft of femur. (E and F) Generalized osteoporosis with fish mouth vertebra
See this image and copyright information in PMC

References

    1. McDowell CL, Moore JD. Multiple fractures in a child: the osteoporosis pseudoglioma syndrome. A case report. J Bone Joint Surg Am. 1992;74:1247–9. - PubMed
    1. Ai M, Heeger S, Bartels CF, Schelling DK Osteoporosis-Pseudoglioma Collaborative Group. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet. 2005;77:741–53. - PMC - PubMed
    1. Tüysüz B, Bursalı A, Alp Z, Suyugül N, Laine CM, Mäkitie O. Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. Horm Res Paediatr. 2012;77:115–20. - PubMed