title: [A moderate intrauterine growth delay with lethal outcome: neonatal Menkes disease].
abstract: We report a case of moderate intrauterine growth delay with a congenital skull fracture and subdural hematoma, related to Menkes disease. The diagnosis was established in the neonatal period and absorptiometry showed global osteopenia. This disorder has an X-linked recessive inheritance pattern. It results from an abnormality in copper transport with a reduction in the ability to incorporate copper into certain enzymes that need it as a cofactor. The clinical phenotype stems from a deficiency of these enzymes, which explains the diversity of the symptoms. It begins in the first months of life with neurological disorders (hypotonia, seizures) and bone and vascular abnormalities. Usually, death occurs before the age of 5.
authors.affiliation: Service de néonatologie et réanimation néonatale, pédiatrie 2, hôpital Arnaud-de-Villeneuve, CHU de Montpellier, Montpellier, France.
authors.forename: B
authors.initials: B
authors.lastname: Veit-Sauca
authors.forename: G
authors.initials: G
authors.lastname: Cambonie
authors.forename: R
authors.initials: R
authors.lastname: Salloum
authors.forename: O
authors.initials: O
authors.lastname: Plan
authors.forename: P
authors.initials: P
authors.lastname: Blanchet
authors.forename: J-C
authors.initials: JC
authors.lastname: Picaud
mesh_terms: D000367:Age Factors; D001851:Bone Diseases, Metabolic / Q000175:diagnosis; D001921:Brain / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005317:Fetal Growth Retardation; D006406:Hematoma / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging; D012535:Scalp; D012887:Skull Fractures / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed