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 T1-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.

A rare case of Sandhoff disease: two in the same family

“…A diagnostic neuroimaging marker of Sandhoff disease is bilateral thalamic involvement. 3 A recent advanced diagnostic modality for this disease is proton Magnetic Resonance Spectrography (MRS) of the cerebral metabolites. Wilken et al in their study identified increased levels of inositol (glial marker) and reduced amount of total N-acetylaspartate which is a neuroaxonal marker in a proved case of Sandoff disease.…”

“…2 Sandhoff disease represents 7% of GM2 gangliosidoses. 3 Here we report one such rare case of Sandhoff disease.…”

Avaliação antropométrica de pacientes com suspeita de erros inatos do metabolismo

“…27 O caso da Doença de Sandhoff encontrado neste trabalho apresenta quadro clínico semelhante ao apresentado em um relato de caso sobre esta doença, no qual descreveu um paciente do gênero masculino (um ano e seis meses), que também apresentava regressão psicomotora e a mancha vermelho-cereja na retina, inicio dos sintomas aos seis meses de vida e pais consanguíneos (primos de primeiro grau). 28 Foi possível concluir neste trabalho, que o EIM repercute negativamente no estado nutricional dos pacientes, uma vez que as duas crianças que tiveram diagnóstico apresentaram algum distúrbio nutricional.…”

Bithalamic T2 hypointensity: A diagnostic clue for Sandhoff′s disease

“…In Krabbe's disease T2 hypointensity is more extensive involving the basal ganglia, central white matter and cerebellum in addition to thalamus. [1] Presence of bithalamic T2 hypointensity is a characteristic feature of lysosomal storage disease and helps in performing limited specific investigations for diagnosis of inherited neurometabolic disorders. …”

“…Clinical features include muscular hypotonia or hypertonia, tonico-clonic or myoclonic seizures, visual deficit, and psychomotor retardation. [1] Computed tomography (CT) brain features include bilateral symmetric thalamic hyperdensity with non-specific bilateral white matter hypodensity. MRI is the imaging modality of choice and shows characteristic bilateral thalamic T2 hypointensity and putaminal T2 hyperintensity.…”