title: A case report of Sandhoff disease.
abstract: Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease. A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epilepsy is presented. Cerebral CT scan showed bilateral and symmetrical thalamic hyperdensity. MRI revealed that the thalamus was hyperintense on T(1)-weighted images and hypointense on T2-weighted images with a hypersignal T2 of the white matter. Enzymatic assays objectified a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.
authors.forename: R
authors.initials: R
authors.lastname: Saouab
authors.forename: M
authors.initials: M
authors.lastname: Mahi
authors.forename: R
authors.initials: R
authors.lastname: Abilkacem
authors.forename: H
authors.initials: H
authors.lastname: Boumdin
authors.forename: S
authors.initials: S
authors.lastname: Chaouir
authors.forename: O
authors.initials: O
authors.lastname: Agader
authors.forename: T
authors.initials: T
authors.lastname: Amil
authors.forename: A
authors.initials: A
authors.lastname: Hanine
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging*; D003241:Consanguinity; D003937:Diagnosis, Differential; D004292:Dominance, Cerebral / Q000502:physiology; D054818:Hexosaminidase A / Q000378:metabolism; D054819:Hexosaminidase B / Q000378:metabolism; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000235:genetics; D013788:Thalamus / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed
chemical_list: D054818:Hexosaminidase A; D054819:Hexosaminidase B