Pocus Aiding in The Diagnosis Of Infantile Pompe Disease In Pediatric Practitioner Office: Based Setting

Background: Pompe disease is a rare genetic disorder that affects glycogen and lysosome storage secondary to a deficiency in the enzyme acid alfa glucosidase, with a spectrum of severity attributed to the differing amounts of enzyme deficiency.

Objective: Point-of-care ultrasound (POCUS) modality offer a means of access to early diagnosis and appropriate treatment of rare disorders to achieve better quality of life.

Methods: We report the case of incidental bedside echocardiographic finding of mild LV septal wall thickness in 3 months of age infant prompted further investigations led to early diagnosis of Pompe disease.

Conclusions: Recognizing earlier this disease by POCUS and initiating enzyme replacement therapy led to improve survival, cardiorespiratory function, growth and development milestones of the patient.