Nika Morgan
Oddelek za pediatrijo, Splošna bolnišnica Izola, Izola, Slovenija

Sara Bertok
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Damjana Ključevšek
Služba za radiologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Karin Schara
Oddelek otroške ortopedije, Ortopedska klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Jana Lozar Krivec
Klinični oddelek za neonatologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Infantile cortical hyperostosis or Caffey disease is a rare genetic disorder caused by a mutation in the collagen 1 gene. The mechanism of the disease has not yet been fully elucidated, but the most important factor in the pathogenesis and the consequence of the mutation is periosteal inflammation. The disease becomes clinically evident during the first months of life with asymmetrical bone thickening, most commonly in the mandible, clavicle, scapula, ribs, and long bones. Non-specific systemic inflammatory symptoms can also be present. X-ray imaging with demonstration of bone hyperostosis is essential for the diagnosis, which is confirmed by genetic testing. Treatment is symptomatic. The prognosis of the disease depends on the mode of inheritance. The autosomal recessive form, known as the prenatal form, has a poor prognosis. The autosomal dominant form or infantile Caffey disease usually resolves spontaneously without consequences before the age of two years. We present a case of a neonate with Caffey disease with proven COL1A1 gene mutation.

Key words: Caffey disease, collagen type 1, COL1A1 gene mutation, newborn, bone disease, cortical hyperostosis