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A case report of Sandhoff disease

R Saouab, M Mahi, R Abilkacem

    Clinical Neuroradiology
    |December 15, 2010
    PubMed

    Insights

    Sandhoff disease, a rare lysosomal disorder, can be identified by bilateral thalamic involvement. Imaging and enzyme tests confirmed the diagnosis in an infant with severe neurological symptoms.

    Area of Science:

    • Neurology
    • Genetics
    • Biochemistry

    Background:

    • Sandhoff disease is a rare, severe lysosomal storage disorder, a subtype of GM2 gangliosidosis, accounting for 7% of cases.
    • Bilateral thalamic involvement is a potential diagnostic imaging marker for Sandhoff disease.

    Observation:

    • An 18-month-old infant presented with psychomotor regression and drug-resistant myoclonic epilepsy.
    • Cerebral CT revealed bilateral, symmetrical thalamic hyperdensity.
    • MRI showed thalamic hyperintensity on T1-weighted images, hypointensity on T2-weighted images, and T2 white matter hypersignal.

    Findings:

    • Enzymatic assays demonstrated a deficiency in both hexosaminidase A and hexosaminidase B.
    • These enzymatic findings confirmed the diagnosis of Sandhoff disease.

    Implications:

    • This case highlights the utility of neuroimaging, particularly thalamic abnormalities, in the early diagnosis of Sandhoff disease.
    • Confirming Sandhoff disease through enzymatic assays is crucial for appropriate management and genetic counseling.

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