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Dilated cardiomyopathy in mucolipidosis type 2
E Carboni1, S Sestito1, M Lucente2
1Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Journal of Biological Regulators and Homeostatic Agents
|October 1, 2020
Summary
Mucolipidosis II (MLII) is a rare lysosomal storage disease. This case highlights an 11-month-old girl with MLII presenting with early-onset dilated cardiomyopathy, an uncommon but severe manifestation.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mucolipidosis II (MLII) and III (MLIII) are rare genetic lysosomal storage diseases.
- Caused by mutations in GNPTAB/GNPTG genes, impairing N-acetylglucosamine-1-phosphotransferase activity.
- This enzyme is crucial for mannose-6-phosphate tagging of lysosomal enzymes.
Purpose of the Study:
- To report a rare case of MLII in an infant.
- To describe the clinical presentation, focusing on an uncommon cardiac manifestation.
- To document genetic findings associated with the disease.
Main Methods:
- Case report of an 11-month-old female patient with MLII.
- Genetic analysis of the GNPTAB gene.
- Clinical evaluation of symptoms including facial features, skeletal, neurological, respiratory, and cardiac status.
Main Results:
- The patient exhibited typical MLII features: coarse face, gingival hypertrophy, dysostosis multiplex, and recurrent respiratory infections.
- Genetic analysis revealed compound heterozygous variants in the GNPTAB gene (c.2693delA and c.2956C>T).
- An early-onset dilated cardiomyopathy was observed, a rare complication in MLII.
Conclusions:
- This case underscores the variability in MLII presentation.
- Early-onset dilated cardiomyopathy, though uncommon, can be a severe feature of MLII.
- Genetic confirmation of GNPTAB mutations is essential for diagnosis.
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