ABSTRACT
Background: A hereditary form of infantile cortical hyperostosis (ICH), known as Caffey disease, was recently found to be caused by a heterozygous 3040C → T mutation in the COL1A1 gene. Objective: To determine whether a similar mutation was also responsible for a sporadic case of ICH. Methods: We identified a Thai male infant who was a sporadic case of ICH. He had symmetric cortical hyperostosis of all of his long bones, clavicles, and ribs occurring after a prolonged infusion of prostaglandin E1 (PGE1) for a cyanotic congenital heart disease. Mutation analysis of COL1A1 was performed in the patient and his parents by restriction enzyme digestion of PCR products. Results: The particular mutation was not found in our case and in his parents. A follow-up after 15 months demonstrated that the child had normal growth and development. Repeated imaging studies revealed markedly decreased cortical thickenings of the affected bones. Conclusion: Our findings confirm that PGE1-induced cortical hyperostosis is reversible and does not associate with the COL1A1 3040C→T mutation. Keywords: COL1A1, infantile cortical hyperostosis, prostaglandin, reversible.