Yonsei Med J.  2019 May;60(5):484-486. 10.3349/ymj.2019.60.5.484.

A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis

• Kim ST
• Kim H
• Kim HH
• Lee NH
• Han Y
• Sung SI
• Chang YS
• Park WS

• KMID: 2443254
• DOI: http://doi.org/10.3349/ymj.2019.60.5.484

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.

Keyword

Infantile cortical hyperostosis; preterm infant; case reports

MeSH Terms

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

Figure

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  Fig. 1 Infantogram showing cortical hyperostosis of the bilateral humerus, radius, ulna, femur, tibia, and scapula. Note that the chest volume is relatively small and bell shaped with excessive fanning of the lower ribs.

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  Fig. 2 Skull radiography showing cortical hyperostosis of the bilateral orbital rim, mandible, and skull base.

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