<%server.execute "isdev.asp"%> Osteoporosis pseudoglioma syndrome Gowda VK, Vegda H, Shivappa SK, Benakappa N - J Pediatr Neurosci
home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 300      Small font sizeDefault font sizeIncrease font size Print this page Email this page


 
  Table of Contents    
NEUROIMAGING
Year : 2020  |  Volume : 15  |  Issue : 3  |  Page : 334-335
 

Osteoporosis pseudoglioma syndrome


1 Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
2 Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India

Date of Submission30-Apr-2020
Date of Decision29-May-2020
Date of Acceptance08-Jul-2020
Date of Web Publication06-Nov-2020

Correspondence Address:
Prof. Vykuntaraju K Gowda
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka.
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_107_20

Rights and Permissions

 

   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


How to cite this article:
Gowda VK, Vegda H, Shivappa SK, Benakappa N. Osteoporosis pseudoglioma syndrome. J Pediatr Neurosci 2020;15:334-5

How to cite this URL:
Gowda VK, Vegda H, Shivappa SK, Benakappa N. Osteoporosis pseudoglioma syndrome. J Pediatr Neurosci [serial online] 2020 [cited 2020 Nov 24];15:334-5. Available from: https://www.pediatricneurosciences.com/text.asp?2020/15/3/334/300034




Osteoporosis pseudoglioma (OPPG) syndrome is a rare autosomal recessive condition characterized by intellectual disability, osteoporosis of bones, and eye abnormalities. It is caused by mutation in gene LRP5 (LDL receptor-related protein) on chromosome 11q13.4. This protein helps in regulation of bone mineral density and development of retina.[1] A 14-year-old female child, born of the nonconsanguineous marriage, presented with a history of walking difficulty with frequent falls since the last 3 years followed by deformity of the left leg. History of difficulty in vision and small eyes were noted from infancy. On examination, her head size was 46 cm (less than 3 SD), bilateral micropthalmia, microcornea, corneal clouding, vitreoretinal detachment, and atrophic irises [Figure 1]A. Such eye findings are called pseudoglioma of eye. She had deformity of left lower limb, anterior bowing of both tibia [Figure 1]B, lax skin, and hyperextensible joints. Radiological evaluation showed severe osteoporosis with fracture of left femur [Figure 1]C and [Figure 1]D and fish mouth vertebra [Figure 1]E and [Figure 1]F. 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.V366M and confirmed by Sanger sequencing. Testing for parents showed heterozygous status for same pathogenic varmint in both parents.
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

Click here to view


We report a case of OPPG syndrome, with infantile onset of vision loss and severe osteoporosis. This child had micropthalmia, microcornea, corneal clouding, vitreoretinal detachment, and atrophic irises. Ocular findings may vary other than these. There are reports of band keratopathy, intraocular hemorrhage, and calcification. Few patients had preserved vision till teenage also.[1] Most patients are blind before 25 years of age.[2] Therefore, bone examination should be done whenever such eye findings are there and vice versa eye examination should be done with the severe bone abnormality. All patients manifest severe thinning of bones, bowing of extremities, and spinal deformities.

We considered the possibility of congenital rubella syndrome and excluded as the child does not have deafness and in the presence of severe osteoporosis of bones. We also considered the possibility of Osteogenesis imperfecta (OI); however, OI had ruled out as this child had no hearing loss, blue sclera, joint laxity, contractures, and teeth problems. In the presence of classical eye findings of pseudoglioma of eye with radiological features of severe osteoporosis we diagnosed as OPPG and confirmed by genetic testing. Osteoporosis and vertebral fractures are known to start in juvenile period. But few patients had earlier onset.[3] Similar pathogenic mutation has been described by Tüysüz et al.[3] Treatment options are regular bisphosphonates therapy which improves bone mineral density and prevents early fractures. Early diagnosis and treatment are helpful in preventing further fractures and osteoporosis.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

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.  Back to cited text no. 1
    
2.
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.  Back to cited text no. 2
    
3.
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.  Back to cited text no. 3
    


    Figures

  [Figure 1]



 

Top
Print this article  Email this article
 
 
  Search
 
  
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (1,095 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
    References
    Article Figures

 Article Access Statistics
    Viewed66    
    Printed0    
    Emailed0    
    PDF Downloaded1    
    Comments [Add]    

Recommend this journal