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A Bone to Pick: Diagnosing Infantile Cortical Hyperostosis Lynne Rosenberg, MD1, Amy Beeson, MD1, Nina S

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A Bone to Pick: Diagnosing Infantile Cortical Hyperostosis Lynne Rosenberg, MD1, Amy Beeson, MD1, Nina S A Bone to Pick: Diagnosing Infantile Cortical Hyperostosis Lynne Rosenberg, MD1, Amy Beeson, MD1, Nina S. Ma, MD1,2 1Children’s Hospital of Colorado, 2University of Colorado, Department of Pediatrics Background Conclusions • Infantile cortical hyperostosis, or Caffey • Pediatricians should be aware of Caffey disease, is a self-limiting bone disorder disease, which typically presents with irritability characterized by fever, irritability, soft tissue and fever in infants less than age six months, swelling and cortical thickening of bone. and with asymmetric cortical thickening, often of • While rare, it is an important diagnosis to the jaw, clavicle, scapulae or ribs. consider as early recognition may prevent • The clinical course is variable; however, in unnecessary invasive procedures, antibiotic contrast to osteomyelitis, the treatment for use and morbidity in affected children. Image 2: Abnormal signal of the left chest wall including the ribs, intercostal Caffey disease is supportive, often with musculature, and overlying soft tissues, and smooth periosteal reaction. NSAIDs, and the disease typically self-resolves. • Prompt recognition of this rare but important Image 1: Abnormal appearance of multiple disease may prevent unnecessary interventions left ribs with probable periosteal/cortical such as bone biopsy or prolonged antibiotic thickening and asymmetric soft tissue Pathology: use. Case Presentation thickening. • Rib biopsy: Benign skeletal muscle and fibroadipose tissue. Benign bone with remodeling changes. All infectious studies were negative. • 5 month-old female with a recent admission References Labs: Genetic Testing: for one week of fever and apneic pauses • Caffey J. Infantile cortical hyperostoses. J • CBC: WBC 17.3(H), Hgb 7.5(L), Plt 1062(H) • Heterozygous variant of uncertain significance in COL1A1 c.4372G>A • During prior hospitalization, chest x-ray Pediatr. 1946;29(5):541-559. doi:10/1016/ • Alkaline phosphatase: 407(H) (p.Val1458Ile): Not a published variant known to cause Caffey disease, demonstrated retrocardiac opacification, and s0022-3476(46)80122-7 • ESR: 106(H), CRP: 5.8(H), Procalcitonin: 0.1(L) but has been posted to ClinVar as a Caffey disease-associated variant. completed a course of ampicillin for • Caffey J. Infantile cortical hyperostosis; a pneumonia • Blood cultures: negative Treatment: review of the clinical and radiographic features. • Three days after discharge, infant developed Proc R Soc Med. 1957;50(5):347-354. Imaging: • Symptoms were treated with ibuprofen. Subsequent radiographs recurrent fevers and diarrhea and presented • Glorieux FH. Caffey disease: an unlikely • CXR (Image 1) demonstrated interval decrease in the size of the involved ribs within to PCP collagenopathy. J Clin Invest. 2005;115(5): • She was noted to be fussy, intermittently • Skeletal survey: Cortical hyperostosis of the three months, suggesting bone remodeling. rd th 1142-1144. doi:10.1172/JCI25148 tachypneic, and to have decreased 3 -9 ribs. No additional areas of cortical movement of her left arm hyperostosis. • MRI (Image 2) .
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