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Polysomnographic findings in infantile Pompe disease

Sujay Kansagra1, Stephanie Austin, Stephanie DeArmey

  • 1Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

American Journal of Medical Genetics. Part A
|October 15, 2013
PubMed

Insights

Infantile Pompe disease patients frequently experience sleep apnea and hypoventilation. Routine polysomnography is recommended for early detection and management of these breathing issues in infants.

Area of Science:

  • Pediatrics
  • Genetics
  • Neurology

Background:

  • Infantile Pompe disease is a rare genetic disorder caused by acid α-glucosidase deficiency, leading to glycogen buildup.
  • Key symptoms include hypotonia, cardiomyopathy, and weakness, often progressing to respiratory failure.
  • Sleep pathology is not well understood in infantile Pompe disease, unlike in late-onset forms.

Purpose of the Study:

  • To investigate the prevalence and characteristics of sleep pathology in infantile Pompe disease.
  • To analyze polysomnography data in a cohort of patients with infantile-onset Pompe disease.

Main Methods:

  • Retrospective analysis of nocturnal polysomnography data.
  • Inclusion of 17 patients diagnosed with infantile-onset Pompe disease.

Main Results:

  • Obstructive sleep apnea was common in the studied cohort.
  • Hypoventilation was also frequently observed.
  • Sleep-disordered breathing was present even in patients without overt symptoms.

Conclusions:

  • Sleep apnea and hypoventilation are prevalent in infantile Pompe disease.
  • Polysomnography should be a routine diagnostic tool for all infants with this condition.
  • Early identification of sleep pathology can aid in disease management.

Keywords:
infantile Pompe diseasenocturnal hypoventilationobstructive sleep apneasleep-disordered breathing

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