A 65-year-old male patient diagnosed with OI from the study of a daughter also affected.
She had no previous family history of the disease.
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She reported a history of several fractures (approximately 6-7) during childhood and adolescence following minimal trauma, the first at 2 years of age.
During adulthood, she had had two new elbow and shoulder fractures.
All had been treated conservatively.
She was treated with calcium during childhood.
He had also had multiple sprains and various muscle ruptures throughout his life.
Diagnosed as otorrhea, she had been operated on for stapedectomy of both ears.
Search was performed for osteoporosis detected in bone densitometry (DXA), showing T-scores of -3.4 in the lumbar spine (L1-L4), -3 in the femoral neck and -2.8 in the total.
He was asymptomatic.
Physical examination revealed 162 cm in size, blue sclera and presence of dentinogenesis calla.
There were no thoracic deformities, neither in the dorsolumbar spine nor in the limbs, except in the right elbow (postfracture).
No hyperlaxity was observed.
The calcium-phosphorus metabolism study showed normal levels of calcium, phosphorus, calciuria, and parathyroid hormone (PTHi).
Levels of 25 hydroxyvitamin D (25OHCC) were in the insufficiency range: 22 ng/ml (desirable values >30 ng/ml).
Bone markers were in normal range.
Other endocrine causes of osteoporosis were ruled out.
As part of our protocol for the study of patients with OI, a cervical spine X-ray ruled out basilary impression was performed, and a chest X-ray showed normal ascending aorta degenerative changes in lithiasis.
A genetic study was carried out by NGSc (Next- GuaAGE1 sequencing) of a COL1A1 heterozygosis gene, COL1A2, CRTAP and LEPRE1, detected in
This mutation results in a change in the reading pattern, which, at the level of collagen protein, gives rise to a premature stop codon (p.Gly1175Valfs*64 likely pathogenic change is treated).
Other changes that were considered polymorphisms were detected.
Treatment with weekly alendronate associated with daily supplements of calcium and vitamin D was recommended. Treatment with alendronate resulted in a slight improvement in densitometry after 1 year of treatment (T-scores of -3.2 in total femoral neck).
