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误诊为急性骨髓炎的Caffey病1例报道
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Abstract:
目的:探讨Caffey病(婴儿骨皮质增生症)的病因、临床表现、诊断和治疗。方法:对我科误诊为急性骨髓炎的Caffey病患儿的临床资料进行回顾及分析。结果:患者因发热、左下肢肿胀住院,影像学检查表现为多骨受累,左侧下颌骨骨皮质增厚,左侧腓骨髓腔囊腔样扩张、皮质菲薄,骨膜层状反应性环状增生增厚,骨质破坏不明显,软组织明显肿胀、无脓肿及坏死灶形成,考虑Caffey病,给予糖皮质激素规律治疗后,患儿体温恢复正常,左下肢肿胀消退。结论:在临床工作中,有发热、肢体肿胀伴活动受限,影像学可见骨皮质增生、增厚的患儿,需要考虑Caffey病。
Objective: To explore the etiology, clinical manifestations, diagnosis, and treatment of Caffey disease (infantile cortical hyperostosis). Methods: The clinical data of a child with Caffey disease, initially misdiagnosed as acute osteomyelitis in our department, were retrospectively reviewed and analyzed. Results: The patient was hospitalized due to fever and swelling of the left lower limb. Imaging studies revealed multi?bone involvement, including cortical thickening of the left mandible, cystic expansion of the medullary cavity with thinned cortex in the left fibula, and lamellated periosteal reactive hyperplasia with annular thickening. No significant bone destruction was observed. Marked soft?tissue swelling was noted, without abscess or necrotic foci formation. Based on these findings, Caffey disease was considered. After regular glucocorticoid therapy, the child’s body temperature returned to normal and the swelling of the left lower limb subsided. Conclusion: In clinical practice, Caffey disease should be considered in children presenting with fever, limb swelling accompanied by limited mobility, and imaging findings of cortical hyperplasia and thickening.
| [1] | Caffey, J. and Silverman, W.A. (1945) Infantile Cortical Hyperostoses: Preliminary Report on New Syndrome. American Journal of Roentgenology, 54, 1-16. |
| [2] | Oad, M., Tu, J., Siddiqui, B., Barlev, D. and Shah, S. (2024) Monostotic Scapular Caffey Disease: A Case Report with MRI Correlate. Cureus, 16, e51533. https://doi.org/10.7759/cureus.51533 |
| [3] | Roske G (1930) Eine eigenartige Knochenerkrankung im Sauglingsalter. Monatsschrift Kinderheilkd, 47, 385. |
| [4] | Gunther, R.S., Mu, T.S. and Clark, P. (2025) Fetal MRI and Postnatal Findings of Severe Infantile Cortical Hyperostosis: A Case Report of Prenatal Caffey Disease with Literature Review. Radiology Case Reports, 20, 4530-4535. https://doi.org/10.1016/j.radcr.2025.05.070 |
| [5] | 贾和庚. 婴儿骨皮质增生症(附66例报告) [J]. 中华骨科志, 1995(2): 74-75. |
| [6] | 黄世廷, 卜祥珍. 婴儿骨皮质增生症的影像学诊断[J]. 医学影像学杂志, 2018, 28(12): 2120-2122. |
| [7] | Chapman, T., Menashe, S.J. and Taragin, B.H. (2019) Radiographic Overlap of Recurrent Caffey Disease and Chronic Recurrent Multifocal Osteomyelitis (CRMO) with Considerations of Molecular Origins. Pediatric Radiology, 50, 618-627. https://doi.org/10.1007/s00247-019-04590-3 |
| [8] | Gensure, R.C., Mäkitie, O., Barclay, C., Chan, C., DePalma, S.R., Bastepe, M., et al. (2005) A Novel COL1A1 Mutation in Infantile Cortical Hyperostosis (Caffey Disease) Expands the Spectrum of Collagen-Related Disorders. Journal of Clinical Investigation, 115, 1250-1257. https://doi.org/10.1172/jci200522760 |
| [9] | Kitaoka, T., Miyoshi, Y., Namba, N., Miura, K., Kubota, T., Ohata, Y., et al. (2014) Two Japanese Familial Cases of Caffey Disease with and without the Common COL1A1 Mutation and Normal Bone Density, and Review of the Literature. European Journal of Pediatrics, 173, 799-804. https://doi.org/10.1007/s00431-013-2252-8 |
| [10] | Dhooge, T., Syx, D., Hermanns-Lê, T., Hausser, I., Mortier, G., Zonana, J., et al. (2021) Caffey Disease Is Associated with Distinct Arginine to Cysteine Substitutions in the Proα1(I) Chain of Type I Procollagen. Genetics in Medicine, 23, 2378-2385. https://doi.org/10.1038/s41436-021-01274-y |
| [11] | Merdler-Rabinowicz, R., Grinberg, A., Jacobson, J.M., Somekh, I., Klein, C., Lev, A., et al. (2019) Fetuin-A Deficiency Is Associated with Infantile Cortical Hyperostosis (Caffey Disease). Pediatric Research, 86, 603-607. https://doi.org/10.1038/s41390-019-0499-0 |
| [12] | Gupta, H. and Choudhary, B. (2024) Caffey’s Disease in Disguise: A Child Abuse Mimic. BMJ Case Reports, 17, e256998. https://doi.org/10.1136/bcr-2023-256998 |
| [13] | Lee, D., Kim, W., Kim, B., Nho, J., Hong, C., Lee, S., et al. (2021) Differential Diagnosis between Child Abuse and Infantile Cortical Hyperostosis: A Case Report and Literature Review. International Journal of Environmental Research and Public Health, 18, Article 12269. https://doi.org/10.3390/ijerph182212269 |
| [14] | Braslavsky, A. and López, M.E. (2024) Congenital Cortical Hyperostosis: A Rare Cause of Inconsolable Crying in a Baby. Clinical Case Report. Archivos Argentinos de Pediatria, 122, e202310220. |
| [15] | Navarre, P., Pehlivanov, I. and Morin, B. (2013) Recurrence of Infantile Cortical Hyperostosis: A Case Report and Review of the Literature. Journal of Pediatric Orthopaedics, 33, e10-e17. https://doi.org/10.1097/bpo.0b013e318277d3a2 |
| [16] | Yap, J.Y.C., Lim, J.Y., Bhatia, A., Tan, V.K.J., Koo, S., Nishimura, G., et al. (2023) The IFITM5 Ser40Leu Variant Can Manifest as Prenatal Caffey Disease. American Journal of Medical Genetics Part A, 194, 358-362. https://doi.org/10.1002/ajmg.a.63420 |
| [17] | 贾洪顺, 孙涛. 婴儿骨皮质增生症并发再生障碍性贫血1例报告[J]. 实用放射学杂志, 2004(12): 1152. |