Congenital cortical hyperostosis: a rare cause of inconsolable crying in a baby. Clinical case report

• DOI: 10.5546/aap.2023-10220.eng
• Publication Date: 2023-12-28T15:43:01Z
• Authors: Ana, Braslavsky; María E, López
• Keywords: Male; Collagen Type I, alpha 1 Chain; Humans; Infant; Female; Crying; Collagen Type I; Hyperostosis, Cortical, Congenital

Here we describe the case of a 2-month-old infant who consulted several times due to excessive crying, initially interpreted as having a gastrointestinal cause. Since the symptom persisted, a fracture was suspected due to its association with mobilization of the limbs and palpation of a mass on the anterior aspect of the right tibia. X-rays showed diaphyseal polyostotic involvement and lesions compatible with cortical involvement of long bones. Caffey-De Toni-Silverman syndrome was diagnosed and treatment with nonsteroidal anti-inflammatory drugs was initiated, resulting in symptom remission. Subsequently, the diagnosis was confirmed by the identification of the pathogenic heterozygous variant COL1A1. This is a rare condition with an estimated incidence of 48/100 000 individuals, and less than 150 cases have been described to date.