[GM2 gangliosidosis, O variant (Sandhoff disease): suspected diagnosis of a storage disease by ultrasound].
We report on a 3.6 year old boy who suffers from Sandhoff disease. The diagnosis was suspected because of striking ultrasound findings: Parts of the thalamus were more echogenic, the cortical gyri were sharp and accentuated. The CT- and MRI features were similar to the US-findings. The diagnosis was confirmed by demonstrating the typical enzyme deficiency in leucocytes.
Sommer
B
B
Kinderklinik des DRK-Rittbergkrankenhauses, Berlin.
Spohr
H L
HL
D001928:Brain Diseases, Metabolic / Q000000981:diagnostic imaging*; D002421:Caudate Nucleus / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004453:Echoencephalography; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012497:Sandhoff Disease / Q000000981:diagnostic imaging*; D013788:Thalamus / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed
GM2-Gangliosidose, Variante O (M. Sandhoff): Verdachtsdiagnose einer Speicherkrankheit durch Ultraschall.