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Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
Yasaman Alizadeh1, Hossein Saidi2, Vahid Saeedi3
1Pediatric Endocrinology and Metabolism Department, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Insights
Pompe disease, caused by GAA enzyme deficiency, leads to glycogen buildup. Early genetic counseling and prenatal diagnosis are vital for managing this infantile-onset condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Pompe disease (glycogen storage disease type II) results from acid alpha-glucosidase (GAA) deficiency.
- This genetic disorder causes progressive glycogen accumulation in various tissues.
- A distinct genotype-enzyme activity correlation is characteristic of Pompe disease.
Observation:
- An 18-week-old infant presented with respiratory distress, cyanosis, and fever.
- The infant exhibited cardiomegaly, hypotonia, and absent reflexes.
- A sibling previously died from Pompe disease, indicating familial risk.
Findings:
- Diagnosis was confirmed by severely diminished GAA enzyme activity.
- Despite initiating treatment, the infant experienced cardiac arrest and succumbed.
- This case represents an infantile-onset Pompe disease presentation.
Implications:
- Highlights the critical role of genetic counseling for affected families.
- Emphasizes advancements in prenatal testing and antenatal diagnosis via echocardiography.
- Underscores the importance of early intervention strategies for infantile-onset Pompe disease.
Background:
Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance.
Case Presentation:
An 18-week-old infant with respiratory distress, cyanosis, and fever was admitted. Born healthy, her sibling died from Pompe disease. She presented with cardiomegaly, hypotonia, and absent reflexes. Diagnosis was confirmed by significantly reduced GAA activity. Despite treatment initiation, the patient succumbed to cardiac arrest.
Conclusions:
The case underscores genetic counseling's role, offering insights into prenatal testing advancements, antenatal diagnosis through echocardiography, and the significance of early intervention, particularly in infantile-onset Pompe disease.
Synopsis:
Genetic risk assessment and prenatal testing are crucial for families with a history of Pompe disease to improve early diagnosis and management outcomes.
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