title: [Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings].
abstract: Neonatal adrenoleukodystrophy is a recently individualized disease manifested by very early onset of neurologic deterioration. Progression of the disease is rapid and there is no effective therapy. Differences with X-linked adrenoleukodystrophy include genetic inheritance, which is autosomal recessive, a more severe prognosis, and presence of multiple peroxisome enzyme deficiencies that justify classification alongside the Zellweger syndrome among the peroxisome disorders. We report three cases in siblings and describe the main clinical and biochemical features.
authors.forename: H
authors.initials: H
authors.lastname: Sarda
authors.forename: V
authors.initials: V
authors.lastname: Henry
authors.forename: H
authors.initials: H
authors.lastname: Le Loc'h
authors.forename: P
authors.initials: P
authors.lastname: Aubourg
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D000326:Adrenoleukodystrophy / Q000151:congenital* / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000151:congenital*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male
vernacular_title: Adrénoleucodystrophie néonatale. A propos de trois cas d'une même fratrie.