Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report.

Abstract

Introduction: Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that leads to vision loss. In this study, we report the outcome of a short period of treatment with teriparatide in one patient with OPPG.

Case presentation: The patient was a 17-year-old girl who suffered a bone fracture at the age of two and was diagnosed with OPPG at the age of three. Genetic testing was performed for the patient, and a novel homozygous nonsense mutation (c.351G>A) in exon 2 of the LRP5 gene was reported. She was treated with pamidronate, but the bone fracture increased, and the disability progressed. Therefore, at the age of 11 years and nine months, teriparatide was administered subcutaneously at a dose of 20 micrograms per day for four consecutive months. After the treatment with teriparatide, physical activity was achieved, and no further fractures were observed besides the gradual rise in bone mineral density (BMD) (from 0.532 to 0.711 gr/cm² in lumbar spine and 0.372 to 0.635 gr/cm² in femur neck).

Conclusions: In children and adolescents diagnosed with OPPG who do not respond to other conventional therapies, short courses of teriparatide therapy may be helpful.