婴儿皮质骨增生,或者卡菲的病,通常表现为软组织肿胀和下层骨皮质增厚的典型放射学特征。这种疾病在产前出现时可能是致命的,尤其是在胎龄35周之前.这个致命的,已知这种疾病的过早形式发生在全球各个种族中,英语文献报道了大约30例。本文的独特之处在于,它是第一篇报道在韩国诊断出的致命形式的产前型婴儿皮质肥大症的论文。出生在27周零4天的胎龄,患者有典型的羊水过多特征,Anasarca,多骨肥厚,小颌畸形,肺发育不全,还有肝肿大.病人是低张的,由于肺发育不全和持续的肺动脉高压,必须在整个医院过程中得到高频通气的支持。由于疾病本身,以及延长的肠外营养,肝功能衰竭进展,患者在第38天死亡,同时合并不受控制的感染性休克。患者染色体核型正常,46,XX,未检测到COL1A1基因突变。
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.