OSTEOGENESIS IMPERFECTA TYPE I REPORT OF TWO CASES (Atena Editora)

Abstract

Osteogenesis imperfecta (OI) is a rare disease, genetically autosomal dominant; It is characterized by mutations in collagen-forming genes, with high bone fragility and risk of fractures. OI type I is the most common and mild form. 2 clinical cases of this entity are presented, evaluated at the Pereira Rossell Hospital, in the period 2020-2021. These are two girls, ages 2 and 4, with a clinical diagnosis of OI type I in the first months of life. The oldest has a genetic study, mutation of the Col1A1 gene. They share the presence of three fragility fractures in long bones, tibial bone deformities, hypermobility, and blue sclerae. The youngest is short and both have normal development. Phosphocalcium metabolism is normal and they are replaced with vitamin D3. The diagnosis of OI is clinical, radiological and genetic. The presentation The clinical picture is heterogeneous with skeletal manifestations, such as fractures, deformities and growth retardation; and extra-skeletal manifestations, such as bluish discoloration of the sclera, dentinogenesis imperfecta and hearing loss. Bone densitometry and radiography are the imaging studies of choice. A mutation in the Col1a1 and Col1a2 genes, which encode the α chains of type I collagen, is identified in 90% of cases. The objective of treatment is to improve quality of life through a multidisciplinary approach including physical rehabilitation, orthopedic surgery, pharmacological treatment with bisphosphonates, hearing management and dental anomalies.