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Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

3 Mar 2016

Abstract excerpt

BACKGROUND: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. CASE REPORT: This report presents a 22-month-old girl with infantile type Sandhoff disease...

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Share to Glycogen Storage Diseases and Myoclonus
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PMID: 26985245
DOI: 10.12659/pjr.895911

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