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A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis
Susan Taejung Kim1, Hyeseon Kim1, Hyun Ho Kim1
1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Insights
This study reports the first lethal prenatal case of infantile cortical hyperostosis (Caffey's disease) in South Korea. The premature infant presented with severe symptoms and expired due to complications.
Area of Science:
- Pediatrics
- Medical Genetics
- Neonatology
Background:
- Infantile cortical hyperostosis, or Caffey's disease, is characterized by bone abnormalities.
- A rare, fatal prenatal form of Caffey's disease can occur before 35 weeks gestation.
- Globally, approximately 30 cases of this severe form have been documented.
Observation:
- A preterm infant (27 weeks, 4 days) presented with polyhydramnios, anasarca, and hyperostosis.
- The infant exhibited micrognathia, pulmonary hypoplasia, and hepatomegaly.
- Clinical course involved hypotonia, high-frequency ventilation, and progressive liver failure.
Findings:
- This is the first reported case of lethal prenatal infantile cortical hyperostosis in South Korea.
- The infant expired at 38 days due to septic shock superimposed on liver failure.
- Normal karyotype (46, XX) and absence of COL1A1 gene mutation were noted.
Implications:
- This case expands the geographic reporting of fatal prenatal Caffey's disease.
- It underscores the severe prognosis of antenatal infantile cortical hyperostosis.
- Further research into the genetic and pathogenic mechanisms of this rare condition is warranted.
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.
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