Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

BMJ Case Rep. 2022 Mar 9;15(3):e247312. doi: 10.1136/bcr-2021-247312.

PMID: 35264382

Udara Dilrukshi Senarathne, Eresha Jasinge, Sarojini Viknarajah Mohan

Highlights: Careful evaluation of common pediatric presentations, which may be an indication of serious underlying pathologies, is of great importance.

Abstract:

Background: Pompe disease is an inherited autosomal-recessive disorder of glycogen metabolism brought on by a lack of lysosomal acid alpha-glucosidase. The infantile-onset type typically manifests as respiratory symptoms during infancy and is quickly lethal if untreated.

Objective and findings: This study examines two infants who presented with respiratory symptoms as early as infancy and were later found to have cardiomegaly, hypotonia, and increased muscle enzymes, which allowed for the genetic diagnosis of Pompe disease. However, despite supportive medical care, both infants passed away before receiving enzyme replacement therapy due to complications of irreparable muscular injury.

Conclusion: Lack of alarming symptoms like hypoglycemia, ketoacidosis, or encephalopathy, presentation with respiratory symptoms that are common in childhood, and the relative rarity of Pompe disease can all contribute to delays in the early diagnosis as were seen in the index patients. These instances highlight the significance of careful assessment of typical pediatric presentations since they may be masking signs of more severe diseases.

Keywords: congenital disorders, genetic screening/counselling, pathology