Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate

Area of Science:

• Pediatrics
• Rare Diseases
• Metabolic Disorders

Background:

• Infantile hypotonia, or floppy infant, presents a diagnostic challenge, especially when masked by concurrent symptoms like fever or cough.
• The condition can be overlooked, leading to delayed diagnosis and treatment as children are treated for more apparent symptoms.

Purpose of the Study:

• To highlight the diagnostic challenges of infantile hypotonia, specifically infantile Pompe disease.
• To emphasize the importance of clinical suspicion in diagnosing Pompe disease, even when presenting with common symptoms.

Main Methods:

• Case report of a rare infantile Pompe disease presentation in a disaster setting.
• Clinical correlation of presenting symptoms including fever, cough, and respiratory distress with underlying hypotonia.

Main Results:

• The patient, presenting with fever and cough in a disaster camp, was initially misdiagnosed with pneumonia.
• Subtle signs of hypotonia were overshadowed by respiratory symptoms (normal respiratory rate, reduced SpO2, crackles), leading to misdiagnosis.

Conclusions:

• Infantile Pompe disease can be clinically diagnosed by detailed history and correlating findings, despite overlapping symptoms.
• A high index of suspicion is crucial for identifying Pompe disease in infants presenting with seemingly common illnesses.