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Open Access 01-12-2022 | Ventricular Septal Defect | Case report

Infantile Sandhoff disease with ventricular septal defect: a case report

Authors: Jamal Khaled Sahyouni, Luma Bassam Mahmoud Odeh, Fahad Mulla, Sana Junaid, Subhranshu Sekhar Kar, Naheel Mohammad Jumah Al Boot Almarri

Published in: Journal of Medical Case Reports | Issue 1/2022

Abstract

Background

Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes β-hexosaminidase A and B. The resultant accumulation of GM2 ganglioside within both gray matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration.

Case presentation

We evaluated a 3.5-year-old Comorian girl from the United Arab Emirates who presented with repeated chest infections with heart failure due to ventricular septal defect, neuroregression, recurrent seizures, and cherry-red spots over macula. She had macrocephaly, axial hypotonia, hyperacusis, and gastroesophageal reflux. Organomegaly was absent. Brain magnetic resonance imaging, metabolic tests, and genetic mutations confirmed the diagnosis. Despite multidisciplinary therapy, the girl succumbed to her illness.

Conclusion

Though early cardiac involvement can be seen with novel mutations, it is extremely rare to find association of ventricular septal defect in infantile Sandhoff disease. Neuroregression typically starts around 6 months of age. We report this case because of the unusual association of a congenital heart disease with underlying infantile Sandhoff disease and symptomatic heart failure in the first month of life with eventual fatal outcome.

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Title: Infantile Sandhoff disease with ventricular septal defect: a case report
Authors: Jamal Khaled Sahyouni
Luma Bassam Mahmoud Odeh
Fahad Mulla
Sana Junaid
Subhranshu Sekhar Kar
Naheel Mohammad Jumah Al Boot Almarri
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Ventricular Septal Defect
Ventricular Septal Defect
Published in: Journal of Medical Case Reports / Issue 1/2022
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-022-03550-0

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Infantile Sandhoff disease with ventricular septal defect: a case report

Abstract

Background

Case presentation

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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