Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies
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 monosialotet...
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MDPI AG
2024-02-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/14/5/491 |
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| author | Dana Elena Mîndru Elena Țarcă Elena Emanuela Braha Alexandrina-Ștefania Curpăn Solange Tamara Roșu Dana-Teodora Anton-Păduraru Heidrun Adumitrăchioaiei Valentin Bernic Ioana-Alexandra Pădureț Alina Costina Luca |
| author_facet | Dana Elena Mîndru Elena Țarcă Elena Emanuela Braha Alexandrina-Ștefania Curpăn Solange Tamara Roșu Dana-Teodora Anton-Păduraru Heidrun Adumitrăchioaiei Valentin Bernic Ioana-Alexandra Pădureț Alina Costina Luca |
| author_sort | Dana Elena Mîndru |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-25T00:32:04Z |
| format | Article |
| id | doaj.art-480718db861a49fe9175c58b96e4f112 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-04-25T00:32:04Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-480718db861a49fe9175c58b96e4f1122024-03-12T16:41:57ZengMDPI AGDiagnostics2075-44182024-02-0114549110.3390/diagnostics14050491Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated AortopathiesDana Elena Mîndru0Elena Țarcă1Elena Emanuela Braha2Alexandrina-Ștefania Curpăn3Solange Tamara Roșu4Dana-Teodora Anton-Păduraru5Heidrun Adumitrăchioaiei6Valentin Bernic7Ioana-Alexandra Pădureț8Alina Costina Luca9Department of Mother and Child Medicine, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, RomaniaDepartment of Surgery II—Pediatric Surgery, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, RomaniaDepartment of Genetics Endocrinology, National Institute of Endocrinology CI Parhon, 011863 Bucureşti, RomaniaDepartment of Biology, Faculty of Biology, “Alexandru Ioan Cuza” University of Iasi, 700505 Iasi, RomaniaDepartment of Nursing, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, RomaniaDepartment of Mother and Child Medicine, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, RomaniaDepartment of Mother and Child Medicine, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, RomaniaDepartment of Surgery II, “Saint Spiridon” Hospital, 700115 Iasi, Romania“Sfanta Maria” Emergency Children Hospital, 700309 Iasi, RomaniaDepartment of Mother and Child Medicine, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, RomaniaGangliosidosis (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.https://www.mdpi.com/2075-4418/14/5/491GLB1 mutationGM1aortopathiesfibroelastosislysosomal storage disease |
| spellingShingle | Dana Elena Mîndru Elena Țarcă Elena Emanuela Braha Alexandrina-Ștefania Curpăn Solange Tamara Roșu Dana-Teodora Anton-Păduraru Heidrun Adumitrăchioaiei Valentin Bernic Ioana-Alexandra Pădureț Alina Costina Luca Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies Diagnostics GLB1 mutation GM1 aortopathies fibroelastosis lysosomal storage disease |
| title | Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies |
| title_full | Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies |
| title_fullStr | Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies |
| title_full_unstemmed | Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies |
| title_short | Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies |
| title_sort | congenital heart malformations masked by infantile gangliosidosis case report and growing evidence for metabolic disease associated aortopathies |
| topic | GLB1 mutation GM1 aortopathies fibroelastosis lysosomal storage disease |
| url | https://www.mdpi.com/2075-4418/14/5/491 |
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