Year: 2025
Type: article
Study design: Case Report
Abstract: Caffey's disease, or infantile cortical hyperostosis, is a rare disorder characterized by subperiosteal new bone formation and diffuse soft tissue inflammation in infants younger than six months. A much rarer prenatal form presents before birth with diffuse, symmetric cortical thickening and often results in perinatal death, especially when it develops early in gestation. The severe form may be associated with pulmonary hypoplasia, hepatic dysfunction, and high neonatal mortality. We report the case of a premature infant born at 27 weeks' gestation to a 36-year-old mother with chronic hypertension. Prenatal ultrasound demonstrated polyhydramnios, fetal hydrops, and abnormal long-bone ossification. Postnatal radiographs showed diffuse "cotton-wool" periosteal reactions involving all long bones and ribs, consistent with prenatal Caffey's disease. Differential diagnoses such as osteogenesis imperfecta, congenital infection, and skeletal dysplasia were excluded through laboratory and genetic testing. The infant required prolonged ventilatory support but gradually improved and was discharged after a 19-week neonatal intensive care stay. At one-year follow-up, imaging showed near-complete remodeling of affected bones with only mild humeral deformity, and by two years, the child demonstrated normal growth, ambulation, and complete radiographic resolution. With diagnosis at 27 weeks, this case highlights one of the earliest documented survivors of severe prenatal Caffey's disease and suggests that once complications of prematurity are managed, the skeletal manifestations can resolve spontaneously. Awareness of this condition may help avoid misdiagnosis and guide appropriate counseling and follow-up.
Source: Cureus
DOI: 10.7759/cureus.98173
Institution: University of South Alabama
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4416831145