title: [Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation].
abstract: Asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive form of chondrodysplasia characterized by short ribs. Respiratory failure is due to the reduced volume and complete immobility of the thoracic cage. There is no consensus on the treatment of this restrictive pulmonary disease. Surgical attempts to enlarge the thoracic cage are disappointing. We report the cases of nine children with ATD treated by periodic respiratory hyperinsufflation. Their clinical outcome was related to the severity of their respiratory distress and their age at the beginning of this treatment. It is possible to use periodic hyperinsufflation very early after birth to prevent secondary respiratory failure. Periodic insufflation can also be used to treat older children with severe restrictive respiratory insufficiency requiring tracheostomy and endotracheal management. This treatment promotes alveolar multiplication and thoracic growth. Four children had laboratory and/or clinical evidence of hepatic dysfunction that improved on ursodeoxycholic acid therapy. Three children who had muscle weakness at birth improved during childhood.
authors.affiliation: Service de Neuro-Pédiatrie, Hôpital Raymond Poincaré, 92380 Garches.
authors.forename: Claire
authors.initials: C
authors.lastname: Do Ngoc Thanh
authors.forename: Annie
authors.initials: A
authors.lastname: Barois
authors.forename: Brigitte
authors.initials: B
authors.lastname: Estournet-Mathiaud
authors.forename: Jacques
authors.initials: J
authors.lastname: Bataille
authors.forename: Christine
authors.initials: C
authors.lastname: Ioos
mesh_terms: D002648:Child; D002675:Child, Preschool; D019468:Disease Management; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007327:Insufflation / Q000379:methods*; D008107:Liver Diseases / Q000188:drug therapy / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000196:embryology / Q000628:therapy*; D011296:Prenatal Diagnosis; D012121:Respiration, Artificial / Q000295:instrumentation / Q000379:methods*; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000517:prevention & control; D012272:Ribs / Q000002:abnormalities*; D014139:Tracheostomy; D016896:Treatment Outcome; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use
chemical_list: D014580:Ursodeoxycholic Acid