Related Experiment Videos
A case of mucopolysaccharidoses type I with heart involvement during infancy
S Demirsoy1, K Gücüyener, R Olguntürk
1Department of Pediatrics, Gazi University Faculty of Medicine, Ankara.
The Turkish Journal of Pediatrics
|January 1, 1990
Insights
Mucopolysaccharidoses I (MPS I) can cause severe cardiac issues, even in infants. This case highlights early-onset cardiac failure in MPS I, leading to rapid deterioration and death.
Area of Science:
- Pediatric Cardiology
- Rare Genetic Disorders
- Metabolic Diseases
Background:
- Mucopolysaccharidoses I (MPS I) is a rare lysosomal storage disorder.
- Typically, MPS I symptoms manifest after the first year of life.
- Cardiac involvement is a known, but often later, complication of MPS I.
Observation:
- A case of MPS I presented with severe cardiac involvement.
- Cardiac failure was observed in the third month of life.
- This early presentation is atypical for MPS I.
Findings:
- Diagnosis was confirmed through clinical and laboratory findings.
- The infant experienced rapid cardiac decompensation.
- The patient succumbed to cardiac failure within one month of presentation.
Implications:
- This case underscores the potential for severe, early-onset cardiac manifestations in MPS I.
- Highlights the importance of considering MPS I in neonates with unexplained cardiac failure.
- Suggests the need for earlier diagnostic considerations in specific pediatric cardiac emergencies.
Abstract:
We report a case of mucopolysaccharidoses I with severe cardiac involvement, which was diagnosed on the basis of clinical and laboratory findings even though, symptoms begin to occur in mucopolysaccharidoses after the first year of life. In our case cardiac failure occurred in the third month of life, which resulted in the patient's death after one month.