Fetal MRI and postnatal findings of severe infantile cortical hyperostosis: A case report of prenatal Caffey disease with literature review

Abstract

Caffey disease, also known as infantile cortical hyperostosis, is a rare skeletal disorder characterized by self-limited cortical bone hyperostosis and soft tissue swelling, typically presenting within the first 6 months of life. We report a rare case of prenatal Caffey disease, with fetal MRI imaging and postnatal radiographs demonstrating the hallmark findings of severe cortical hyperostosis. A current review of literature details the varied sporadic and familial origins of infantile cortical hyperostosis revealing a genetic link with a mutation of the COL1A1 gene coding for type 1 collagen. Differential diagnostic considerations are also reviewed for potentially similar patterns of bone diseases encountered in the neonatal period. This case presentation aims to review the clinical, genetic, and imaging implications of this unique disease to aid radiologists and clinicians towards accurate diagnosis, prognosis, and management. While supportive care remains the mainstay of treatment of Caffey disease, the prognosis is generally favorable, with spontaneous resolution being the most common outcome.