title: A case of laryngeal atresia (congenital high airway obstruction syndrome) with chromosome 5p deletion syndrome rescued by ex utero intrapartum treatment.
abstract: The authors report a case of laryngeal atresia (congenital high airway obstruction syndrome [CHAOS]) that was diagnosed prenatally. The patient underwent successfully tracheostomy by ex utero intrapartum treatment (EXIT). The fetal ultrasonography and magnetic resonance imaging MRI showed a typical CHAOS pattern with expanded hyperechogenic lungs, inverted diaphragms, and a dilated trachea. Recently, 3 cases of prenatally diagnosed CHAOS were reported to be treated successfully by EXIT. The clinical manifestation and course of this case was not similar to these 3 cases. The 3 previous patients did not fare as well during gestation and were delivered earlier than that in our case. In our case, fetal hydrops was seen at 23 gestational weeks, but it gradually subsided and disappeared at 30 gestational weeks. The fetus was stable and well. After delivery at 39 weeks, the baby received respiratory assistance by ventilator assistance. After 3 days, she could breath well on her own. The patient also had chromosome 5p deletion syndrome and perineal groove. More experience in treating CHAOS cases with EXIT to fully estimate its clinical course and prognosis is needed.
authors.affiliation: Pediatric Surgery, The University of Tokyo Hospital, Tokyo, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Kanamori
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Kitano
authors.forename: Kohei
authors.initials: K
authors.lastname: Hashizume
authors.forename: Masahiko
authors.initials: M
authors.lastname: Sugiyama
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Tomonaga
authors.forename: Hajime
authors.initials: H
authors.lastname: Takayasu
authors.forename: Satoshi
authors.initials: S
authors.lastname: Egami
authors.forename: Keiji
authors.initials: K
authors.lastname: Goishi
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Shibuya
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kawana
authors.forename: Genzo
authors.initials: G
authors.lastname: Marumo
authors.forename: Akihiko
authors.initials: A
authors.lastname: Kikuchi
authors.forename: Shiro
authors.initials: S
authors.lastname: Kozuma
authors.forename: Yuji
authors.initials: Y
authors.lastname: Taketani
authors.forename: Yushi
authors.initials: Y
authors.lastname: Sekiyama
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D000328:Adult; D000402:Airway Obstruction / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology; D008607:Intellectual Disability / Q000235:genetics; D007828:Laryngoscopy; D007830:Larynx / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D008168:Lung / Q000002:abnormalities / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011859:Radiography; D013577:Syndrome; D014132:Trachea / Q000002:abnormalities; D014139:Tracheostomy; D016216:Ultrasonography, Prenatal