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

Giselle Gozum, Michelle Bogdan, Revathy Sundaram, Jolanta Kulpa, Pramod Narula, Levon Agdere

(Department of Pediatrics, NewYork Presbyterian-Brooklyn Methodist Hospital, Brooklyn, NY, USA)

Am J Case Rep 2020; 21:e926821

DOI: 10.12659/AJCR.926821


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.

This paper has been published under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
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