Femur Fracture in a Premature Infant: An Unusual Association of Sickle Cell Disease with Osteogenesis Imperfecta

Patient: Female, 1-year-old Final Diagnosis: Sickle cell anaemia Symptoms: Fracture Medication: — Clinical Procedure: — Specialty: Hematology • Pediatrics and Neonatology OBJECTIVE: Rare co-existance of disease or pathology BACKGROUND: Bone health is influenced by multiple factors, including genetic disorders such as osteogenesis imperfecta (OI) and sickle cell disease (SCD). OI is a genetic disorder caused by mutations in genes that encode type 1 collagen. Type 1 collagen synthesizes bones, skin, and other connective tissues. Defective synthesis can lead to brittle bones and other abnormalities. Patients with OI present with spontaneous fractures. SCD is an autosomal-recessive disorder resulting in a major hemolytic anemia. The formation of sickle hemoglobin results in increased blood viscosity and sickling of red blood cells, which causes painful vaso-occlusive crisis in bones and joints, acute chest syndrome, and stroke. CASE REPORT: We present the case of an infant with a dual diagnosis of OI and SCD. The patient was born at 26 6/7 weeks gestational age to a mother who had sickle trait. The infant was admitted to the Neonatal Intensive Care Unit for prematurity and respiratory distress with a clinical course that was complicated by other comorbidities. Newborn screening revealed a diagnosis of SCD-SS type. At 83 days of life, the infant presented with swelling and tenderness of the left leg. Imaging revealed a non-displaced fracture of the femoral shaft. The patient was evaluated for OI and genetic testing confirmed the diagnosis of OI type 1. CONCLUSIONS: An association between SCD and OI is rare. The impact of these 2 major diagnoses on clinical features and outcome as well as challenges to care remains to be seen.