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

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.