Abstract Ref Number = APCP836
OSTEOGENESIS IMPERFECTA (CASE SERIES REPORT)
Department of Child Health Faculty of Medicine of Sriwijaya Universuty Moh Hoesin Hospital Palembang
Background : Osteogenesis imperfecta is a disorder causing bone fragility which resulted from mutations of COL1A1 and COL1A2 genes coding type I procollagen. It is a rare disease with incidence of 1:15,000-20,000 live births. Diagnosis of OI is made based on clinical findings and supporting examinations. The aim of this case series report is to describe our observation of clinical manifestations of patients with OI after several years of treatment.
Case Presentation Summary : A three-years-old girl diagnosed with type I OI, admitted with repeated bone fractures, and blue sclera. Calcium, phosporous, and 25-hydroxyvitamin D (25[OH]D) levels were within normal. Bone survey result supported the diagnosis of OI. She was given intravenous zoledronate for 1 year and 6 months. In the last 6 months, she has lower limbs asymmetry and has noticable gait when walking. An eight-years-old girl diagnosed with type III OI, admitted with repeated bone fractures, blue sclera, and short stature. Calcium, phosporous, and 25-hydroxyvitamin D (25[OH]D) levels were within normal. Patient had been given intravenous pamidronate every 3 months for 3 years and 6 months. In the last 4 years patient has been given intravenous zoledronate every 6 months. She is currently able to walk with assistive tool. A-15 year-old boy diagnosed with type I OI, admitted with repeated bone fractures, blue sclera, and short stature. Calcium, phosphorous and 25-hydroxyvitamin D (25[OH]D) levels were within normal. Patient was previously given weekly oral sodium risedronate for 2 years by an orthopedist. She has been given intravenous zoledronate for the last 6 months and is able to walk normally without assistance.
Learning Points/Discussion : Osteogenesis imperfecta should be considered in patients presenting with repeated bone fractures, blue sclera, and bone deformity. Bone survey should be done to support diagnosis. Long term monitoring and management are needed to improve quality of life.
Keywords: Osteogenesis Imperfecta Clinical Manifestation Quality of Life