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[Type I spinal atrophy (Werdnig-Hoffman disease). Case report]

Miguel Angel Collado-Ortiz1, Paul Shkurovich-Bialik, Stefany González-De Leo

  • 1Neurofisiología clínica, The American British Cowdray Medical Center.

Cirugia Y Cirujanos
|May 22, 2007
PubMed

Insights

This case report details a 5 1/2 month-old male diagnosed with Type I spinal muscular atrophy (SMA), or Werdnig-Hoffmann disease. The rare condition led to severe respiratory and heart failure, highlighting the importance of pediatrician awareness.

Area of Science:

  • Pediatric Neurology
  • Genetics
  • Rare Diseases

Background:

  • Spinal muscular atrophy (SMA) Type I, also known as Werdnig-Hoffmann disease, is a rare and severe neuromuscular disorder.
  • Early diagnosis and familiarity with SMA Type I are crucial for pediatricians due to its significant clinical implications.

Observation:

  • A 5 1/2-month-old male infant presented with acute respiratory failure and generalized muscular weakness.
  • Clinical presentation included pneumonia, atelectasis, hypoxemia, bradycardia, and hypotonic limbs.
  • Diagnostic workup revealed axonal motor polyneuropathy, tongue fasciculations, chronic denervation signs, and a homozygous deletion on SMN1 exon 7.

Findings:

  • Genetic analysis confirmed a homozygous deletion on exon 7 of the SMN1 gene, indicative of SMA Type I.
  • Neurophysiological studies demonstrated an axonal motor polyneuropathy.
  • The patient experienced severe respiratory and cardiac failure despite intensive care.

Implications:

  • This case underscores the critical importance of recognizing SMA Type I in infants presenting with respiratory distress and muscle weakness.
  • Prompt diagnosis and management are essential for potentially improving outcomes in this rare genetic disorder.
  • Increased awareness among healthcare professionals can facilitate earlier intervention for patients with Werdnig-Hoffmann disease.
Abstract

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