Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy

Pediatr Neurol. Nov-Dec 1993;9(6):496-7. doi: 10.1016/0887-8994(93)90034-a.

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.

Publication types

  • Case Reports

MeSH terms

  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / pathology
  • Biopsy
  • Brain / pathology
  • Child, Preschool
  • Consanguinity
  • Electromyography
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Liver / pathology
  • Male
  • Microbodies / pathology
  • Muscle, Skeletal / pathology
  • Neurologic Examination
  • Respiratory Insufficiency / diagnosis
  • Respiratory Insufficiency / genetics
  • Respiratory Insufficiency / pathology
  • Spinal Cord / pathology
  • Spinal Muscular Atrophies of Childhood / diagnosis
  • Spinal Muscular Atrophies of Childhood / genetics*
  • Spinal Muscular Atrophies of Childhood / pathology