A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis
10.3349/ymj.2019.60.5.484
- Author:
Susan Taejung KIM
1
;
Hyeseon KIM
;
Hyun Ho KIM
;
Na Hyun LEE
;
Yeaseul HAN
;
Se In SUNG
;
Yun Sil CHANG
;
Won Soon PARK
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. yschang@skku.edu
- Publication Type:Case Report
- Keywords:
Infantile cortical hyperostosis;
preterm infant;
case reports
- MeSH:
Edema;
Ethnic Groups;
Gestational Age;
Hepatomegaly;
High-Frequency Ventilation;
Humans;
Hyperostosis;
Hyperostosis, Cortical, Congenital;
Hypertension, Pulmonary;
Infant, Newborn;
Infant, Premature;
Karyotype;
Korea;
Liver Failure;
Micrognathism;
Parenteral Nutrition;
Polyhydramnios;
Shock, Septic
- From:Yonsei Medical Journal
2019;60(5):484-486
- CountryRepublic of Korea
- Language:English
-
Abstract:
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 COL1A1 gene mutation was not detected.
