Central core disease: atypical case with respiratory insufficiency in an intensive care unit

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Central core disease (CCD) is a rare congenital myopathy.
• It is characterized by the presence of central cores within muscle fibers on biopsy.
• CCD typically presents in infancy or early childhood with muscle weakness.

Observation:

• A 13-year-old girl presented with severe respiratory distress syndrome requiring mechanical ventilation.
• She failed to wean from the ventilator after two weeks, prompting further investigation.
• Clinical and electromyographic findings suggested a primary muscle disorder.

Findings:

• Muscle biopsy revealed characteristic central cores in type 1 muscle fibers.
• This confirmed the diagnosis of central core disease.
• The patient exhibited an atypical late-onset presentation with significant respiratory insufficiency.

Implications:

• This case highlights an unusual presentation of central core disease.
• It underscores the importance of considering CCD in pediatric patients with unexplained respiratory failure.
• Early diagnosis and management can potentially improve outcomes for patients with atypical CCD.