IMPE Abstracts

Bruck's Syndrome was first described in 1897 by Alfred Bruck, with an autosomal recessive inheritance, resulting from the FKBP10 mutation that courses with conditions of different severity. The prevalence is less than 1/1,000,000, with less than 40 cases described in the literature. This mutation generates a loss in the function of the FKBP65 protein, which generates effects such as a delay in the secretion of type 1 procollagen, and a decrease in the formation of intermolecular bonds in the bone. It results in a phenotype with short stature, high incidence of joint contractures, bone fragility, frequent fractures and scoliosis due to vertebral deformities. It is an association of osteogenesis imperfecta with arthrogryposis. We report a male patient, 1 years and 6 months old, son of parents with consanguinity, first cousins. Mother in first pregnancy, with prenatal exams without evidence of alterations. He was born at term by cesarean section with breech presentation, hypotonic with irregular breathing requiring positive pressure ventilation, evolving with respiratory improvement. During the initial evaluation, deformities were identified in the lower limbs, which were in a flexed position, with internal rotation, lack of mobility in the knees and ankles and reduced mobility of the hip. In a radiological image performed, with three days of life, for infectious screening, bone calluses were identified in the costal arches and fracture in the 1st arch. At five days of life, when he presented less mobility in the left upper limb, a metadiaphyseal fracture of the left humerus was evidenced. Posterior fractures: right femur in May 2021; left humerus in May 2021; right femur in October 2021; left humerus in October 2021; right femur in April 2022; right humerus in May 2022. Blood material was collected for molecular analysis, by sequencing, of the panel of skeletal diseases. It was identified, in homozygosity, in the FKBP10 gene, substitution of the amino acid glycine for arginine in codon 278 with change of the reading frame from that point, with consequent creation of codon of premature stop of the protein translation. Additionally, the variant was shown to lead to loss of function of the mutated allele. With the confirmation of the diagnosis of Bruck Syndrome, treatment with Pamidronate was started in June 2022. This treatment aims to improve bone mass, reducing the number of fractures and improving quality of life.