Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.
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.
Paul
D A
DA
Department of Pediatrics, St Christopher's Hospital for Children, Philadelphia, PA 19134, USA.
Goldsmith
L S
LS
Miles
D K
DK
Moser
A B
AB
Spiro
A J
AJ
Grover
W D
WD
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