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Migrating atelectasis in Werdnig-Hoffmann disease: pulmonary manifestations in two cases of spinal muscular atrophy
E A Leistikow1, N E Jones, K D Josephson
1Neonatal-Perinatal Medicine Division of the Pediatrix Medical Group, Gulf Coast Medical Center, Panama City, Florida 32406-5309, USA. Elizabeth_Leistikow@att.net
Abstract:
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.
Insights
Spinal muscular atrophy (SMA), a common neuromuscular disease, can present with early pulmonary issues. Migrating or rotating atelectasis may indicate infantile SMA diagnosis in newborns.
Area of Science:
- Neurology
- Pediatrics
- Pulmonology
Background:
- Spinal muscular atrophy (SMA), also known as Werdnig-Hoffmann disease, is the second most prevalent neuromuscular disorder.
- It is an autosomal-recessive condition linked to deletions in the survival motor neuron gene, affecting approximately 1 in 10,000 births.
- Infantile SMA presents with severe hypotonia, feeding difficulties, respiratory distress, and rapid progression, often leading to early mortality.
Observation:
- This study identifies migrating or rotating atelectasis as an additional early pulmonary manifestation in infantile SMA.
- Observed in two patients with infantile spinal muscular atrophy.
- This specific type of atelectasis may serve as a diagnostic clue.
Findings:
- Migrating or rotating atelectasis is presented as a novel early pulmonary sign in infantile spinal muscular atrophy.
- The presence of this condition was noted in two infants diagnosed with SMA.
- This finding suggests a potential link between this pulmonary issue and the underlying neuromuscular disease.
Implications:
- Recognizing migrating or rotating atelectasis could lead to earlier diagnosis of spinal muscular atrophy in infants.
- This may prompt earlier intervention, potentially improving outcomes for affected newborns.
- Further research into the relationship between SMA and pulmonary manifestations like atelectasis is warranted.