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RESEARCH PRODUCT
Thalamic hyperdensity — is it a diagnostic marker for Sandhoff disease?
Selçuk ApakMeral ÖZmenMine ÇAlis¸kanMichael Becksubject
MalePathologymedicine.medical_specialtyThalamusSandhoff diseaseGangliosidosisCentral nervous system diseaseHexosaminidase ARadiologic signHexosaminidase BThalamusDevelopmental NeurosciencemedicineHumansHexosaminidasemedicine.diagnostic_testbusiness.industryBrainInfantSandhoff DiseaseMagnetic resonance imagingGeneral Medicinemedicine.diseaseMagnetic Resonance ImagingHexosaminidase Bbeta-N-AcetylhexosaminidasesPediatrics Perinatology and Child HealthNeurology (clinical)Tomography X-Ray Computedbusinessdescription
Sandhoff disease, also known as GM2-gangliosidoses variant 0, is caused by the deficient activity of both hexosaminidase A and hexosaminidase B. We report a 15-month-old boy diagnosed with Sandhoff disease by demonstrating the enzyme deficiency. The interesting finding was bilateral thalamic hyperdensity on the CT scan. The hyperdensity in all previously published cases was homogeneous and symmetric and limited to the thalamus; the cause still remains unknown. We suggest that the finding of dense thalami may be useful as a specific diagnostic criterion for the GM2-gangliosidoses and especially for Sandhoff disease.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1993-09-01 | Brain and Development |