Sandhoff disease in the elderly: a case study

Abstract

Sandhoff disease is an infrequent, genetically caused disorder with a recessive autosomal inheritance pattern. It belongs to the gangliosidosis GM2 group and is produced by mutations in gen HEXB leading to reduction in enzymatic activity of enzymes β-hexosaminidase A and B. Adult-onset GM2 gangliosidosis is rare. Here we report a white male who presented at age 69 with a fast-progression, motor neuron disease, mimicking amyotrophic lateral sclerosis (ALS), combined with autonomic dysfunction, sensory ataxia, and exaggerated startle to noise. Enzymatic assays demonstrated deficiency of both Hexosaminidases A and B leading to the diagnosis of Sandhoff disease.

Keywords:

• Sandhoff disease
• Hexosaminidase deficiency
• motor neuron disease

Declaration of interest

There is not any financial interest or benefit that has arisen from the direct applications of this case.

Additional information

Funding

This work was supported by the Ministry of Public Health of Cuba.