[Glycogenosis type II with early onset: peculiar features in a case report]

Area of Science:

• Pediatric Medicine
• Genetics
• Cardiology

Background:

• Glycogenosis II, also known as Pompe disease, is a rare genetic disorder affecting lysosomal glycogen metabolism.
• Early infantile onset (type a) presents severe systemic manifestations, including muscle weakness and organomegaly.
• Prompt diagnosis and management are crucial for improving outcomes in affected infants.

Observation:

• This case report describes an infant with glycogenosis II (type a) exhibiting atypical early-onset pathological signs.
• Urinary tract abnormalities were noted within the first days of life.
• Instrumental evidence of myocardial disease and associated clinical symptoms appeared unusually early.

Findings:

• The patient presented with a rare combination of early infantile glycogenosis II and concurrent urinary tract pathology.
• Early-onset myocardial involvement, a significant complication, was detected instrumentally.
• The case underscores the variability in clinical presentation and the need for comprehensive diagnostic approaches.

Implications:

• This report contributes to understanding the spectrum of glycogenosis II, particularly type a.
• It emphasizes the importance of considering urinary tract evaluation in neonates with suspected glycogenosis II.
• The findings support the development of refined diagnostic criteria for infantile hypertrophic cardiomyopathy, aiding in the differential diagnosis of complex pediatric cases.