A diagnostic dilemma in an infant: a case of infantile cortical hyperostosis overlapping with chronic recurrent multifocal osteomyelitis
DOI:
https://doi.org/10.18203/2349-3291.ijcp20253798Keywords:
Infantile cortical hyperostosis, Caffey disease, Autoinflammatory bone disorders, Chronic recurrent multifocal osteomyelitis, IL1RN mutation, Periosteal reactionAbstract
Caffey’s disease, first described by Caffey and Silverman in 1945 is also known as infantile cortical hyperostosis (ICH), is a condition that affects infants and is mostly self-limiting. Presenting with painful soft tissue swellings, fever and irritability, it is characterized by cortical thickening of the underlying bones. Its clinical presentation can mimic infectious osteomyelitis, leading to diagnostic challenges. We report a case of a 2-month-old male infant with multifocal bony involvement and genetic findings suggestive of chronic recurrent multifocal osteomyelitis (CRMO), but with clinical features strongly favouring Caffey disease. This case highlights the overlap between autoinflammatory bone disorders in infancy and emphasizes the importance of integrating clinical, radiological, and genetic findings to arrive at an accurate diagnosis. This case is reported to get the awareness of the paediatricians about the disease, its existence in our population, presentation, and important differential diagnoses and management.
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Caffey J, Silverman W. Infantile cortical hyperostosis, preliminary report of a new syndrome. Am J Roentgenol Radiat Ther. 1945;54:1-16.
Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, et al. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest. 2005;115(5):1250-7. DOI: https://doi.org/10.1172/JCI200522760
Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD, et al. A single-center experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol. 2009;84(8):473-9. DOI: https://doi.org/10.1002/ajh.21447
de Almeida JF, Kimura H, Hercowitz LH, Korkes H, Troster EJ. Cortical hyperostosis secondary to prolonged use of prostaglandin E1. Clinics (Sao Paulo). 2007;62(3):363-6. DOI: https://doi.org/10.1590/S1807-59322007000300025
Nadroo AM, Shringari S, Garg M, al-Sowailem AM. Prostaglandin induced cortical hyperostosis in neonates with cyanotic heart disease. J Perinat Med. 2000;28(6):447-52. DOI: https://doi.org/10.1515/JPM.2000.060
Hedrich CM, Hofmann SR. Autoinflammatory bone disorders in children. Pediatr Rheumatol. 2014;12(1):47.
Roderick MR, Shah R, Rogers V, Finn A, Ramanan AV. Chronic recurrent multifocal osteomyelitis (CRMO) in children: clinical manifestations and management. J Bone Joint Surg Am. 2016;98(8):649-58. DOI: https://doi.org/10.1186/s12969-016-0109-1
Aksentijevich I, Masters SL, Ferguson PJ, Paul D, Joost F, van Royen-Kerkhoff A, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist (DIRA). N Engl J Med. 2009;360(23):2426-37. DOI: https://doi.org/10.1056/NEJMoa0807865
Khanna G, Sato TS, Ferguson P. Imaging of chronic recurrent multifocal osteomyelitis. Radiographics. 2009;29(4):1159-77. DOI: https://doi.org/10.1148/rg.294085244
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