SAT-221 Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) in a Pediatric Patient with Osteogenesis Imperfecta Type I

Abstract Disclosure: A. Hernandez: None. A. Ryabets-Lienhard: None. Introduction: Osteogenesis Imperfecta (OI) is a rare genetic disorder primarily caused by pathogenic variants in the COL1A1 or COL1A2, leading to defects in the production of type I collagen (Col-I). Patients with OI have bone fragility, skeletal deformities, decrease in bone mass and short stature. Obesity is a significant problem in children with OI with rates exceeding general population exacerbated by bone fragility, muscle weakness, functional disability, and inactivity. Metabolic-Dysfunction Associated Steatotic Liver Disease (MASLD), a complication from obesity, is a significant health concern that has been on the rise in pediatric population with reported presentation usually between 12-18 years of age. However, little is known about MASLD and its’ impact on bone health in the OI population. We present a case of a young boy with Type I OI with severe obesity and early onset of MASLD and describe their potential effects on bone fragility. Case: A 6-year-old male (weight 3.2 SD, height -2.3 SD, BMI 3.5 SD) with OI type I diagnosed at 11 weeks of life after presenting with multiple fractures was found to have ALT 102 units/L (reference range: <=44), AST 107 units/L (15-46), total bilirubin mg/dL (0.10 - 1.30). Liver ultrasound showed epigenetic, enlarged liver, most consistent with hepatic steatosis. Evaluations for other causes of transaminitis including autoimmune hepatitis, iron overload, Wilson Disease, A1AT deficiency, hypothyroidism, Celiac Disease, LAL deficiency, and infectious hepatitis were negative. Along with dietary changes, patient was also recently started on topiramate 25 mg daily for weight management. Since the diagnosis, in the last year, the long-bone fracture rate increased to 4 fractures/year compared to 1.5 fractures/year two years preceding MASLD diagnosis, despite IV bisphosphonates treatment, improved normal BMD, and relative inactivity. In addition, he has developed significant function disability relying on a wheelchair for ambulatory support. Conclusion: We present a case of an early onset of obesity and MASLD in a young boy with type I OI and worsening fracture rate. Several studies in general population have shown negative effects of obesity and MASLD on bone health and osteoporosis. Obesity and MASLD may present early in life in OI population, whether they contribute to worsening bone pathology in OI is unknown. Medical attention and further studies are needed to address the growing concern of obesity and MASLD and evaluate their role on bone pathology in this high-risk population. Presentation: Saturday, July 12, 2025