title: Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.
abstract: Two siblings with neonatal adrenoleukodystrophy are described. The signs and laboratory data documenting infantile progressive spinal muscular atrophy included the initial presentation of 1 sibling with neonatal adrenoleukodystrophy. These patients indicate that neonatal adrenoleukodystrophy should be considered in the differential diagnosis of infantile progressive spinal muscular atrophy.
authors.affiliation: Department of Pediatrics, St Christopher's Hospital for Children, Philadelphia, PA 19134, USA.
authors.forename: D A
authors.initials: DA
authors.lastname: Paul
authors.forename: L S
authors.initials: LS
authors.lastname: Goldsmith
authors.forename: D K
authors.initials: DK
authors.lastname: Miles
authors.forename: A B
authors.initials: AB
authors.lastname: Moser
authors.forename: A J
authors.initials: AJ
authors.lastname: Spiro
authors.forename: W D
authors.initials: WD
authors.lastname: Grover
mesh_terms: D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male; D008830:Microbodies / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009460:Neurologic Examination; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology