Al Dakhoul Suleiman
J Neonatal Perinatal Med. 2017;10(4):455-457. doi: 10.3233/NPM-16170.
This is a report of a 36 week male infant who suffered abdominal distension and difficulty opening bowels within first few days of life and showed a pattern of hypoventilation and apnea associated with sleep. His diagnostic studies confirmed the diagnosis of congenital central hypoventilation syndrome CCHS (PHOX2B mutation) and Hirschsprung's disease and later found a further mutation of BRAF oncogene. This describes a novel association between these mutations and the shared qualities of tumorigenesis between BRAF and PHOX2B.
这是一份关于一名36周大男婴的报告，该男婴在出生后的头几天出现腹胀和排便困难，并表现出与睡眠相关的通气不足和呼吸暂停模式。他的诊断研究证实了先天性中枢性通气不足综合征（CCHS，PHOX2B基因突变）和先天性巨结肠病的诊断，后来又发现了BRAF癌基因的进一步突变。本文描述了这些突变之间的一种新关联，以及BRAF和PHOX2B在肿瘤发生方面的共同特性。
