Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse.
نویسندگان
چکیده
Infantile cortical hyperostosis (Caffey disease) is a rare self-limiting inflammatory bony disease of early infancy. We report a 1-month-old Chinese boy with Caffey disease who presented with painful swelling over his shins bilaterally. Physical abuse was initially suspected, but the radiological findings of periosteal thickening over multiple bones (particularly the mandible), symmetrical involvement, diaphyseal involvement with sparing of the epiphysis, made Caffey disease a likely diagnosis. This report highlights that infantile cortical hyperostosis is an important differential diagnosis for children suspected of being abused, and clinicians should have a high index of suspicion to avoid misdiagnosis.
منابع مشابه
Caffey disease or infantile cortical hyperostosis: a case report.
Caffey disease or Infantile Cortical Hyperostosis (ICH) is a rare and mostly self limiting condition affecting young infants. It is characterized by acute inflammation of the periostium and the overlying soft tissue and is accompanied by systemic changes of irritability and fever. Diagnosis may be delayed as this disorder mimics a wide range of diseases including osteomyelitis, hypervitaminosis...
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1 Caffey J, Silverman W. Infantile cortical hyperostosis. Preliminary report in a new syndrome. AJR 1945;54:1. 2 Van Buskirk FW, Tampas JP, Peterson OS Jr. Infantile cortical hyperostosis. An enquiry into its familial aspects. AJR 1961;85:613. 3 Finsterbush A, Rang M. Infantile cortical hyperostosis. Followup of 29 cases. Acta Orthop Scand 1975;46:727. 4 Jackson DR, Lyne ED. Infantile cortical ...
متن کاملProfessional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature
BACKGROUND Infantile cortical hyperostosis is characterised by hyperirritability, acute inflammation of soft tissue, and profound alterations of the shape and structure of the underlying bones, particularly the long bones, mandible, clavicles, or ribs. CASE PRESENTATION We report on a clinical case of a 3-months-old baby girl of non-consanguineous parents. Multiple long bone swellings were th...
متن کاملCOL1A1 gene
A particular mutation in the COL1A1 gene causes infantile cortical hyperostosis, commonly known as Caffey disease. The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. This condition is characterized by swelling of soft tissues (muscles, for example), pain, and excessive new bone formation (hyperostosis). The bone abnormalities mainly affect the j...
متن کاملA novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
Infantile cortical hyperostosis (Caffey disease) is characterized by spontaneous episodes of subperiosteal new bone formation along 1 or more bones commencing within the first 5 months of life. A genome-wide screen for genetic linkage in a large family with an autosomal dominant form of Caffey disease (ADC) revealed a locus on chromosome 17q21 (LOD score, 6.78). Affected individuals and obligat...
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ورودعنوان ژورنال:
- Hong Kong medical journal = Xianggang yi xue za zhi
دوره 16 5 شماره
صفحات -
تاریخ انتشار 2010