title: [Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs].
abstract: BACKGROUND
  Menkes disease is a rare X-linked disorder due to a defect in intracellular copper transport. Clinical symptoms appear during the first months of life, with a progressive developmental delay leading to death within a few years. Diagnosis is confirmed by the demonstration of copper retention in fibroblasts and/or DNA testing. However, these investigations are complexes and time consuming.
  
  
  METHODS
  We report 1 case of Menkes disease with neonatal onset, diagnosed on multiple organ failure, hypothermia, and major central nervous system damage, leading to death in a few weeks. The diagnosis, suggested by the clinical features, was rapidly supported by the microscopic examination of the hairs, showing pili torti, and the demonstration of severely decreased levels of plasma copper and ceruloplasmin. Diagnosis was further confirmed by the demonstration of an increased copper uptake and retention in fibroblasts.
  
  
  CONCLUSIONS
  This report highlights the clinical variability of Menkes disease with the possibility of a neonatal onset. Microscopic examination of the hairs and the determination of copper and ceruloplasmin plasma levels are simple and inexpensive investigations, which can provide rapidly valuable information to support this diagnosis.
authors.affiliation: Unité de soins intensifs, hôpital Clocheville, CHRU de Tours, 49, boulevard Béranger, 37044 Tours cedex 01, France.
authors.forename: A
authors.initials: A
authors.lastname: Maury
authors.forename: V
authors.initials: V
authors.lastname: Payen
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: P
authors.initials: P
authors.lastname: Guiraud
authors.forename: E
authors.initials: E
authors.lastname: Saliba
authors.forename: F
authors.initials: F
authors.lastname: Labarthe
mesh_terms: D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000097:blood; D017809:Fatal Outcome; D006197:Hair / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis*
chemical_list: D003300:Copper; D002570:Ceruloplasmin