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A case report of Sandhoff disease.
Clinical Neuroradiology
|December 15, 2010
Summary
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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