Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Author:

Mîndru Dana Elena1,Țarcă Elena2ORCID,Braha Elena Emanuela3,Curpăn Alexandrina-Ștefania4ORCID,Roșu Solange Tamara5,Anton-Păduraru Dana-Teodora1ORCID,Adumitrăchioaiei Heidrun1,Bernic Valentin6,Pădureț Ioana-Alexandra7,Luca Alina Costina1ORCID

Affiliation:

1. Department of Mother and Child Medicine, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, Romania

2. Department of Surgery II—Pediatric Surgery, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, Romania

3. Department of Genetics Endocrinology, National Institute of Endocrinology CI Parhon, 011863 Bucureşti, Romania

4. Department of Biology, Faculty of Biology, “Alexandru Ioan Cuza” University of Iasi, 700505 Iasi, Romania

5. Department of Nursing, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, Romania

6. Department of Surgery II, “Saint Spiridon” Hospital, 700115 Iasi, Romania

7. “Sfanta Maria” Emergency Children Hospital, 700309 Iasi, Romania

Abstract

Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births. The underlying genotype is comprised GLB1 mutations that lead to β-galactosidase deficiency and subsequently to the accumulation of monosialotetrahexosylganglioside (GM1) in the brain and other organs. In total, two diseases have been linked to this gene mutation: Morquio type B and Gangliosidosis. The most frequent clinical manifestations include dysmorphic facial features, nervous and skeletal systems abnormalities, hepatosplenomegaly, and cardiomyopathies. The correct diagnosis of GM1 is a challenge due to the overlapping clinical manifestation between this disease and others, especially in infants. Therefore, in the current study we present the case of a 3-month-old male infant, admitted with signs and symptoms of respiratory distress alongside rapid progressive heart failure, with minimal neurologic and skeletal abnormalities, but with cardiovascular structural malformations. The atypical clinical presentation raised great difficulties for our diagnostic team. Unfortunately, the diagnostic of GM1 was made postmortem based on the DBS test and we were able to correlate the genotype with the unusual phenotypic findings.

Publisher

MDPI AG

Reference27 articles.

1. Blau, N., Duran, M., Gibson, M.K., and Dionisi-Vici, C. (2014). Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Springer.

2. Practical Management of Lysosomal Storage Disorders (LSDs);Tanpaiboon;Transl. Sci. Rare,2019

3. Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?;Kingma;JIMD Rep.,2021

4. Adam, M.P., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemyia, A. (2024, January 15). GLB1-Related Disorders, GeneReviews® [Internet], Available online: https://www.ncbi.nlm.nih.gov/books/NBK164500/.

5. Yuskiv, N., Higaki, K., and Stockler-Ipsiroglu, S. (2020). Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex. Int. J. Mol. Sci., 21.

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