Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

Area of Science:

• Genetics
• Metabolic Disorders
• Pediatrics

Background:

• Pompe disease is a severe autosomal recessive lysosomal storage disorder.
• Early identification of infantile-onset Pompe disease is critical for effective enzyme replacement therapy.
• Prenatal diagnosis and newborn screening are key strategies for early detection.

Observation:

• A case of infantile-onset Pompe disease is presented in an infant born before widespread newborn screening.
• The infant's father initially had a normal paternal carrier genetic test.
• Postnatal diagnosis prompted retesting, revealing a mutation in the father consistent with Pompe disease.

Findings:

• Prenatal parental carrier screening may not detect all cases of Pompe disease.
• A normal carrier test in a parent does not exclude the possibility of their child having Pompe disease.
• Clinical suspicion is vital, even with seemingly normal prior genetic screening.

Implications:

• Healthcare providers must maintain a high clinical suspicion for Pompe disease, regardless of prenatal screening results.
• Limitations in the accuracy of parental recall of genetic testing can impact diagnosis.
• This case highlights the importance of considering Pompe disease in infants presenting with symptoms, even with a history of normal parental carrier screening.