title: [Congenital myotonic dystrophy type I in a very premature neonate: ethical concerns].
abstract: The congenital form of myotonic dystrophy type I (CDM1) corresponds to a>1500 expansion of an unstable trinucleotide (CTG) repeat. Two prognostic factors predict the risk of death in early infancy: maturity of less than 35 weeks of gestation and neonatal invasive ventilation for more than 30 days.
  
  
  METHODS
  The case of a 29-week-old premature female infant, conceived by in vitro fertilization, is reported. Generalized hypotonia led to the diagnosis of the disease. Ethical concertation about withdrawal or maintenance of intensive care was engaged, taking into account the prolonged ventilation, the degree of prematurity, and the parental wishes for maximum care. The infant was extubated after 2 months. At 17 months, motor development and precursors of language were delayed, and difficulties in feeding had required a gastrostomy.
  
  
  CONCLUSIONS
  Technical advances in neonatal intensive care now allow CDM1 children to survive prolonged ventilation. The signification of such ventilatory needs on patient outcome, particularly for motor handicaps, speech and language delay, and mental deficiency, remains uncertain. The potential impact of in vitro fertilization on disease expression may also be considered.
  
  
  CONCLUSIONS
  CDM1 is a severe condition, but variability in clinical manifestations and absence of genotype-phenotype correlation result in problems predicting prognosis at the individual level. Ethical issues about the level of care, notably for tracheostomy and gastrostomy, should be adapted to each case, in partnership with parents.
authors: Département de pédiatrie néonatale et réanimations, pôle hospitalo-universitaire Femme-Mère-Enfant, hôpital Arnaud-de-Villeneuve, centre hospitalier régional universitaire de Montpellier, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors: K
authors: K
authors: Van Den Hende
authors: Département de pédiatrie néonatale et réanimations, pôle hospitalo-universitaire Femme-Mère-Enfant, hôpital Arnaud-de-Villeneuve, centre hospitalier régional universitaire de Montpellier, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France. Electronic address: sabine-durand@chu-montpellier.fr.
authors: S
authors: S
authors: Durand
authors: Département de pédiatrie néonatale et réanimations, pôle hospitalo-universitaire Femme-Mère-Enfant, hôpital Arnaud-de-Villeneuve, centre hospitalier régional universitaire de Montpellier, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors: R
authors: R
authors: Mesnage
authors: Service de pédiatrie, hôpital Carémeau, centre hospitalier régional universitaire de Nîmes, place du Professeur-Debré, 30029 Nîmes cedex 9, France.
authors: A
authors: A
authors: Filleron
authors: Département de pédiatrie néonatale et réanimations, pôle hospitalo-universitaire Femme-Mère-Enfant, hôpital Arnaud-de-Villeneuve, centre hospitalier régional universitaire de Montpellier, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors: G
authors: G
authors: Cambonie
mesh_terms: D005260:Female; D005774:Gastrostomy; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D015931:Intensive Care, Neonatal / Q000941:ethics*; D007805:Language Development Disorders / Q000209:etiology; D000068079:Motor Disorders / Q000209:etiology; D009223:Myotonic Dystrophy / Q000150:complications*; D011175:Positive-Pressure Respiration