Abstract Ref Number = APCP833
A 4-MONTH-OLD GIRL WITH OSTEOGENESIS IMPERFECTA TYPE II TREATED WITH ZOLEDRONIC ACID
I Gusti Amanda Jaya,I Wayan Bikin Suryawan
Pediatric Departement Wangaya General Hospital Denpasar Bali Indonesia Pediatric Departement, Wangaya General Hospital, Denpasar, Bali, Indonesia
Background : Osteogenesis imperfecta (OI) is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that causing bone fragility and deformity. OI caused by mutations in the type-1 collagen genes. Diagnosis based on clinical manifestations, family history, radiological, and laboratories. Therapy aims for reduce fractures and prevent deformities. We report patient with blue sclera, multiple deformities and abnormality body posture. The radiology found deformities with bowing on long bones with depletion, platybasia, codfish vertebrae, osteopenia and discontinuities on arms at birth. The alkaline phosphatase were increase and calcium level were low. She treated with zoledronic acid.
Case Presentation Summary : A 4-month-old girl was found with the clinical feature of OI type II. She had severe asphyxia at birth. She had blue sclera, short stature, midfacial hypoplasia, short and deformed limbs with thick skin folds, short neck, and multiple deformities. There was no family history of OI. Radiograph showed discontinuities on arms at birth, deformity with bowing on humerus, femur, tibia, fibula with depletion, platybasia, codfish vertebrae, and osteopenia. The level of electrolit, blood sugar, renal function, AST were normal, but calcium were low, alkaline phosphatase and ALT were increase. She had zoledronic acid 0.025mg/kg every month until 6 months, vitamin D, calcium and conservative therapy by orthopaedic surgeon. Her condition during treatment is good and there is no recurrent fracture.
Learning Points/Discussion : Our patient was classified as OI type II treated with zoledronic acid. Zoledronic acid is a third-generation bisphosphonate, it has more efficacy in bone marrow density, superior antiresorptive potency, potent efficacy and longer therapeutic interval compared with other bisphosphonates. The patient did not show any side effect and there is no recurrent fracture.
Keywords: Osteogenesis Imperfecta Deformity Zoledronic acid