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4/2018
vol. 93 abstract:
Case report
Caffey-Silverman syndrome – a case report of a two-monthold boy with a positive family history
Elżbieta Jakubowska-Pietkiewicz
,
Bogumiła Górczewska
,
Maciej Porczyński
,
Beata Skoczylas
Pediatr Pol 2018; 93 (4): 343–348
Online publish date: 2018/08/30
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Caffey-Silverman disease is a rare, self-limiting disease of infancy. The onset of the disease is usually sudden, and it is characterised by the following symptoms: irritability and/or fever, painful swelling of soft tissues, and excessive bone formation – typical changes in X-ray. The disease usually occurs in the first six months of the child’s life. In most cases, well-researched clinical history, basic laboratory tests, and X-ray imaging are enough to diagnose the disease. We present a case of a two-month-old boy with clinical, radiological symptoms and a positive family history of Caffey-Silverman disease. The baby was admitted to the clinic due to left leg oedema and limitation of mobility in the left hip. In the X-ray, intensive periosteal layering along the mandible and long limb bones was seen. Genetic testing revealed a mutation in the COL1A1 gene. Although Caffey-Silverman disease is a rare collagenopathy, one should not forget its existence.
keywords:
COL1A1 gene, Caffey-Silverman disease, infantile cortical hyperostosis |
POLSKI
