Infantile-onset Pompe disease: a diagnosis not to miss

Pompe disease is a rare genetic disorder that affects glycogen and lysosome storage secondary to a deficiency in the enzyme that breaks down glycogen (acid alpha-glucosidase). With such deficiency, glycogen buildup occurs within lysosomes and cells, causing dysfunction of several organ systems (typically skeletal and respiratory muscles). Within this disease, the spectrum of severity is attributed to the differing amounts of enzyme deficiency. The most severe and lethal of the spectrum is infantile-onset Pompe disease. In this population, there is less than 1% active enzyme activity with subsequent effect on the function of cardiac, respiratory, and skeletal muscle and hepatic and central nervous system activity. We report the case of a 5-month-old infant who presented with respiratory symptoms of bronchiolitis in the winter season. Physical examination, however, revealed findings suggestive of an underlying neuromuscular disorder and after thorough evaluation led to the diagnosis of infantile-onset Pompe disease. This case emphasizes the need to maintain clinical vigilance when treating common pediatric illnesses. The recognition of Pompe disease in this infant resulted in the initiation of contemporary treatment strategies delaying disease-related morbidity and mortality.