Migrating atelectasis in Werdnig-Hoffmann disease: pulmonary manifestations in two cases of spinal muscular atrophy type 1.
Spinal muscular atrophy (SMA) or Werdnig-Hoffmann disease is the second most common neuromuscular disease, with 25% of cases presenting in infancy. Deletions in the survival motor neuron gene are believed responsible for autosomal-recessive SMA. SMA affects about 1 in 10,000 births. Symptomatic newborns have severe hypotonia, may have respiratory distress, may be unable to feed, and rapidly progress to death early in infancy. This paper describes another early pulmonary manifestation of SMA, i.e., migrating or rotating atelectasis, in 2 patients with infantile SMA. Migrating or rotating atelectasis may suggest the diagnosis of SMA.
Leistikow
E A
EA
Neonatal-Perinatal Medicine Division of the Pediatrix Medical Group, Gulf Coast Medical Center, Panama City, Florida 32406-5309, USA. Elizabeth_Leistikow@att.net
Jones
N E
NE
Josephson
K D
KD
de Sierra
T M
TM
Costakos
D T
DT
Sprague
D
D
Gorch
D H
DH
Asonye
U O
UO
D006801:Humans; D007223:Infant; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D001261:Pulmonary Atelectasis / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000175:diagnosis