Le lepréchaunisme : diagnostic prénatal et prise en charge

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• 作者：H. Boufettal (1)
  Z. Rochdi (1)
  H. Dlia (1)
  F. Z. Fadil (2)
  M. Chemsi (2)
  S. Benomar (2)
  B. Allali (3)
  K. Zaghloul (3)
  S. Mahdoui (1)
  S. Hermas (1)
  N. Samouh (1)
  
• 关键词：Lepréchaunisme ; Syndrome de Donohue ; Résistance à l’insuline ; Malformations ; Diagnostic prénatal ; Donohue syndrome ; Leprechaunism ; Insulin resistance ; Malformations ; Prenatal diagnosis
• 刊名：Revue de m篓娄decine p篓娄rinatale
• 出版年：2014
• 出版时间：June 2014
• 年：2014
• 卷：6
• 期：2
• 页码：144-146
• 全文大小：97 KB
• 参考文献：1. Baumeister FA (1994) Leprechaunism (Donohue’s syndrome) described as familial congenital hypertrichosis totalis. Acta Paediatr 83:18 k" title="It opens in new window">CrossRef
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  7. McDonald A, Williams RM, Regan FM, et al (2007) IGF-I treatment of insulin resistance. Eur J Endocrinol 157:S51–S56 k" title="It opens in new window">CrossRef
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• 作者单位：H. Boufettal (1)
  Z. Rochdi (1)
  H. Dlia (1)
  F. Z. Fadil (2)
  M. Chemsi (2)
  S. Benomar (2)
  B. Allali (3)
  K. Zaghloul (3)
  S. Mahdoui (1)
  S. Hermas (1)
  N. Samouh (1)
  
  1. Service de gynécologie-obstétrique ? C ?, centre hospitalier universitaire Ibn-Rochd, faculté de médecine et de pharmacie, université A?n-Chok, Casablanca, Maroc
  2. Service de néonatologie et réanimation néonatale, centre hospitalier universitaire Ibn-Rochd, faculté de médecine et de pharmacie, université A?n-Chok, Casablanca, Maroc
  3. Service d’ophtalmologie pédiatrique, h?pital 20-Ao?t, centre hospitalier universitaire Ibn-Rochd, faculté de médecine et de pharmacie, université A?n-Chok, Casablanca, Maroc
  
• ISSN：1965-0841

文摘

Leprechaunism or Donohue syndrome is a very rare malformation (less than one case per million), caused by a genetic insulin resistance. We report a case of a patient whose diagnosis was made at birth in gynecology-obstetrics “C-University Hospital Ibn Rushd Casablanca. The case arose as a result of a consanguineous marriage. Donohue syndrome is an autosomal recessive disease corresponding to a severe congenital form of extreme insulin resistance syndrome. The total resistance to insulin makes his prognosis always pejorative. Early prenatal diagnosis is possible, leaving the possibility for parents to request a termination of pregnancy for medical reasons.