[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis]

Area of Science:

• Genetics
• Pediatrics
• Ophthalmology

Background:

• Osteoporosis in children necessitates considering underlying chronic or genetic conditions.
• Primary osteoporosis is increasingly recognized with novel etiologies.
• Congenital retinal folds are a potential indicator for specific genetic bone fragility disorders.

Observation:

• A child presented with congenital retinal folds, progressive vision loss, and multiple fractures.
• Clinical, biochemical, and genetic evaluations were performed.

Findings:

• The patient was diagnosed with Osteoporosis-Pseudoglioma syndrome (OMIM 259770).
• This rare condition is caused by loss-of-function variants in the LRP5 gene, affecting the Wnt/β-catenin pathway.
• A novel homozygous inactivating variant in LRP5 was identified in this child.

Implications:

• This case highlights the importance of LRP5 gene analysis in children with unexplained fractures and retinal abnormalities.
• Early diagnosis of Osteoporosis-Pseudoglioma syndrome is crucial for managing bone fragility and vision impairment.
• Understanding LRP5 variants advances knowledge of bone development and related signaling pathways.