A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis

• Published in: Yonsei medical journal Vol. 60; no. 5; pp. 484 - 486
• Main Authors: Kim, Susan Taejung, Kim, Hyeseon, Kim, Hyun Ho, Lee, Na Hyun, Han, Yeaseul, Sung, Se In, Chang, Yun Sil, Park, Won Soon
• Format: Journal Article
• Language: English
• Published: Korea (South) Yonsei University College of Medicine 01.05.2019; 연세대학교의과대학
• Subjects: Adult; Case Report; Fatal Outcome; Female; Gestational Age; Humans; Hyperostosis, Cortical, Congenital - diagnostic imaging; Hyperostosis, Cortical, Congenital - pathology; Infant, Newborn; Male; Pregnancy; Republic of Korea; 의학일반; Republic of Korea; preterm infant; case reports; Infantile cortical hyperostosis
• ISSN: 0513-5796; 1976-2437; 1976-2437
• DOI: 10.3349/ymj.2019.60.5.484

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethal form of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had to be supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolonged parenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and gene mutation was not detected.