A Case Report of Sandhoff Disease

Authors: R Saouab M Mahi R Abilkacem H Boumdin S Chaouir O Agader T Amil A Hanine

Publish Date: 2010/12/10

Volume: 21, Issue: 2, Pages: 83-85

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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 18monthold 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 T1weighted images and hypointense on T2weighted 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 diseaseSandhoff disease is a rare but severe lysosomal storage disorder caused by a deficiency of both hexosaminidases A and B resulting in accumulation of glycosphingolipids and oligosaccharides in the brain It represents 7 of cases of GM2 gangliosidosis Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease but other structures such as basal ganglia white matter and cerebellum can also be involved In this article a new case of this disease with typical thalamic involvement is reportedAn 18monthold boy born after an uncomplicated fullterm pregnancy was hospitalized for psychomotor regression and drugresistant myoclonic epilepsy There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances The other brother and sister were unaffectedThe onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs recurrent fever and psychomotor developmental delay Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light Ophthalmologic examination showed a cherryred spot without optic atrophy

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