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Cardiac involvement in infantile Sandhoff disease
1Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman. gopalax@omantel.net.om
Journal of Paediatrics and Child Health
|March 1, 2002
Summary
This report details an infant with Sandhoff disease, highlighting neurological symptoms alongside severe mitral regurgitation and aortic regurgitation due to valve prolapse. The case also presents unusual interventricular septum hypertrophy.
Area of Science:
- Biochemistry
- Genetics
- Cardiology
Background:
- Sandhoff disease is a rare, fatal neurodegenerative lysosomal storage disorder.
- Infantile Sandhoff disease typically presents with severe neurological impairment.
Purpose of the Study:
- To report a case of infantile Sandhoff disease with unusual cardiac manifestations.
- To highlight the importance of comprehensive evaluation in Sandhoff disease.
Main Methods:
- Enzyme assay for Sandhoff disease confirmation.
- Clinical examination for neurological and cardiac assessment.
- Echocardiography to evaluate cardiac structure and function.
Main Results:
- Enzyme assay confirmed infantile Sandhoff disease.
- Patient exhibited classical neurological features.
- Severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse were observed.
- Asymmetric hypertrophy of the interventricular septum was noted without left ventricular outflow tract obstruction.
Conclusions:
- Sandhoff disease can present with significant cardiac abnormalities beyond neurological symptoms.
- Early recognition and management of cardiac complications are crucial in patients with Sandhoff disease.