期刊
PEDIATRIC PULMONOLOGY
卷 43, 期 10, 页码 1036-1039出版社
WILEY-LISS
DOI: 10.1002/ppul.20892
关键词
congenital central hypoventilation syndrome; Hirschsprung's disease; missense mutation; PHOX2B gene
资金
- Italian Telethon [GGP04257]
- Italian Ministry of Health
We report the case of a 15-month-old male suffering from Late Onset Congenital Central Hypoventilation Syndrome and recto-sigmoid Hirschsprung's disease, an association that has not been reported thus far. Nevertheless, our patient showed a missense mutation of the PHOX2B gene already known in isolated late onset central hypoventilation, resulting in a substitution of the Ala 140 residue with a Glu residue (p.A140E). The present association of LO-CHS and HSCR in a patient harboring a rare and atypical PHOX2B mutation allows to refine the mutational spectrum of this disease and suggests individualized ventilatory care along with specific surgical and oncological approaches.
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