哈达德综合征

Haddad syndrome.

作者信息

Ławicka Marzena, Sawicka Joanna, Bąkowska Grażyna

机构信息

Long-Term Home Care Services for Mechanically Ventilated Children, Polanki Children's Hospital in Gdańsk, Poland.

出版信息

Anaesthesiol Intensive Ther. 2013 Jan-Mar;45(1):30-2. doi: 10.5603/AIT.2013.0006.

DOI:10.5603/AIT.2013.0006

PMID:23572305

Abstract

Haddad syndrome is a rare genetically conditioned disease. We present a female newborn with congenital central hypoventilation syndrome associated with Hirschprung's disease. The infant is mechanically ventilated and parentally fed in a home setting. The diagnosis has been confirmed by the presence of 20/26 PHOX2B genetic mutation.

摘要

哈达德综合征是一种罕见的遗传性疾病。我们报告了一名患有先天性中枢性低通气综合征并伴有先天性巨结肠的女性新生儿。该婴儿在家中接受机械通气和肠外营养。通过检测到20/26的PHOX2B基因突变确诊。