Prenatal onset of sporadic form of infantile cortical hyperostosis

Authors

  • Lourdes Cohen Department of Paediatrics, Flushing Hospital Medical Center, Flushing, New York, USA

DOI:

https://doi.org/10.18203/2349-3291.ijcp20180571

Keywords:

Caffey's disease, New-born

Abstract

Infantile cortical hyperostosis, Caffey’s disease, is characterized by cortical swelling of one or several flat or long bones, fever, irritability and decreased movement of the affected bones. The onset of presentation is around ten weeks of age, however, antenatal cases with familial and sporadic forms have being reported.  The etiology is unknown. Autosomal dominant or recessive inheritance and sporadic cases have been reported. Present case report describes a mild, antenatal and sporadic form of Caffey’s disease in a newborn infant, who presented with painless swelling and deformity of the right tibia and right forearm. 

References

Caffey J, Silverman WA. Infantile Cortical Hyperostosis. Preliminary report on a new syndrome. Am J Roentgenol. 1945;54:1-16.

Pajewski M, Vure E. Late manifestations of infantile cortical hyperostosis (Caffey's disease). Br J Radiol. 1967;40:90.

Turnpenny PD, Davidson R, Stockdale EJ, Tolmie JL, Sutton AM. Severe prenatal infantile cortical hyperostosis (Caffey's disease). Clin Dysmorphol. 1993;2(1):81-6.

Drinkwater BM, Crino JP, Garcia J, Ogburn J, Hecht JT. Recurrent severe infantile cortical hyperostosis (Caffey’s disease) in siblings. Prenat Diagn. 1997;17:773-6.

Schweiger S, Chaoui R, Tennstedt C, Lehmann K, Mundlos S, Tinscher S. Antenatal onset of cortical hyperostosis (Caffey’s disease). AJMG. 2003;120A:547-52.

Saul RA, Lee WH, Stevenson RE. Caffey's disease revisited: further evidence for autosomal dominant inheritance with incomplete penetrance. Am J Dis Child. 1982;136:55.

Cho TJ, Moon HJ, Cho DY, Park MS, Lee DY, Yoo WJ. The c.3040C >T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). J Hum Genet. 2008.53(10):947-9.

Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M. 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.

Bernstein RM, Zaleske DJ. Familial aspects of Caffey's disease. Am J Orthop. 1995;24:777.

Kamoun-Goldrat A, Martinovic J, Saada J, Sonigo-Cohen P, Razavi F, Munnich A, et al. Prenatal cortical hyperostosis with COL1A1 gene mutation. Am J Med Genet A. 2008;146A(14):1820-4.

Szwed A, Kolban M, Romanowska H, Baryla-Pankiewicz E. Familial occurrence of Caffey-Silverman syndrome. Ortop Traumatol Rehabil. 2012;14(1):75-83.

Skiker I, Dafiri R. Unusual lytic bone lesions in Caffey's disease. J Radiol. 2008;89(11):1767-9.

Estes K, Nowicki M, Bishop P. Cortical hyperostosis secondary to prostaglandin E1 therapy. J Pediatr. 2007;151(4):441.

De Almeida JF, Kimura H, Hercowitz LH, Korkes H, Troster EJ. Cortical hyperostosis secondary to prolonged use of prostaglandin E1. Clin. 2007;62(3):363-6.

Pease CN. Focal retardation and arrestment of growth of bones due to vitamin A intoxication. JAMA. 1962;182:980-5.

Lawson JP. Drug-induced lesions of the musculoskeletal system. Radiol Clin North Am. 1990;28(2):233-46.

Remington and Klein. Infectious Diseases of the Fetus and Newborn. 8th edition. Elsevier; 2015.

Flaherty EG, Jeannette M. Perez-Rossello, Levine MA, Hennrikus WL. Evaluating children with fractures for child physical abuse. Pediatr. 2014;133(2).

Renaud A, Aucourt J, Weill J, Bigot J, Dieux A, Devisme L, et al. Radiographic features of osteogenesis imperfecta. Insights Imaging. 2013;4(4):417-29.

Carlos P, Rolando E, Angelica P. Radiographic imaging in osteomyelitis: the role of plain radiography, computed tomography, ultrasonography, magnetic resonance imaging, and scintigraphy. Semin Plast Surg. 2009;23(2):80-9.

Randall F. Neonatal Osteomyelitis. Neoreviews. 2011;12:e374.

Velaphi S, Cilliers A, Beckh-Arnold E, Mokhachane M, Mphahlele R, Pettifor J. Cortical hyperostosis in an infant on prolonged prostaglandin infusion: case report and literature review. J Perinatol. 2004;24(4):263-5.

Downloads

Published

2018-02-22

Issue

Section

Case Reports