A Case Report of Sandhoff Disease

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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 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.

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Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

Raimo Joensuu, L Aberg, Taina Autti (2007)

Lysosomal disorders are rare and are caused by genetically transmitted lysosomal enzyme deficiencies. A decreased T2 signal in the thalamus has occasionally been reported. Because the finding of bilateral abnormal signal intensity of the thalamus on T2-weighted images has not been systematically reviewed, and its value as a diagnostic tool critically evaluated, we carried out a systematic review of the literature. Articles in English with 30 trios of keywords were collected from PubMed. Exclusion criteria were lack of conventional T2-weighted images in the protocol and not being a human study. Finally, 111 articles were included. The thalamus was considered affected only if mentioned in the text or in the figure legends. Some 117 patients with various lysosomal diseases and five patients with ceruloplasmin deficiency were reported to have a bilateral decrease in T2 signal intensity. At least one article reported a bilateral decrease in signal intensity of the thalami on T2-weighted images in association with GM1 and GM2 gangliosidosis and with Krabbe's disease, aspartylglucosaminuria, mannosidosis, fucosidosis, and mucolipidosis IV. Furthermore, thalamic alteration was a consistent finding in several types of neuronal ceroid lipofuscinosis (NCL) including CLN1 (infantile NCL), CLN2 (classic late infantile NCL), CLN3 (juvenile NCL), CLN5 (Finnish variant late infantile NCL), and CLN7 (Turkish variant late infantile NCL). A decrease in T2 signal intensity in the thalami seems to be a sign of lysosomal disease.

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Juvenile Sandhoff disease--nine new cases and a review of the literature.

J. Wraith, G Besley, Maureen Corry … (2003)

Juvenile Sandhoff disease (McKusick 268800) is a rare lysosomal storage disorder with only 12 cases recorded in the literature. This condition is also referred to as the subacute form of hexosaminidase deficiency. We describe 9 new cases of Pakistani origin and compare these with the other published cases. Ataxia and speech abnormalities were the commonest presentation. Constipation and urinary incontinence were frequent and may be due to autonomic neuropathy. Cherry-red spot was not noted in any of our cases. Increased lower limb reflexes were the commonest physical finding. Significant delay in diagnosis may be due to the nonspecific presentation of this condition. Diagnosis was on the basis of hexosaminidase deficiency. Residual enzyme activity did not correlate with the clinical picture. Emerging therapies make early diagnosis of this disorder important.

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Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.

P. Dechent, B Wilken, J. Frahm … (2007)

Sandhoff disease (gangliosidosis type 0) is a lysosomal storage disorder with a deficiency of hexosaminidases A and B. After an initially normal development the clinical course of affected children is severe and rapidly progressive leading to spastic tetraparesis, epileptic seizures and early death. In a 10-month-old girl with enzymatically established diagnosis of Sandhoff disease MRI of the brain showed signal changes in the periventricular white matter, pyramidal tract, basal ganglia, and cerebellar hemispheres. Proton MR spectroscopy (MRS) at the age of 13 months revealed a reduction of total N-acetylaspartate (neuroaxonal marker) as well as strongly elevated inositol (glial marker) in white matter, gray matter, and basal ganglia. A new resonance at 2.07 ppm was detected in all regions and ascribed to N-acetylhexosamine with highest concentrations in white matter and thalamus. While conventional MRS findings are in line with neuroaxaonal damage and pronounced astrocytosis, the observation of N-acetylhexosamine appears as a specific marker of Sandhoff disease indicating accumulation of hexosamine-containing oligosaccharides. This interpretation is supported by a recent in vitro MRS study of a Sandhoff mouse model. In conclusion, proton MRS of cerebral metabolites offers specific insights into the pathopysiologic processes of children with Sandhoff disease and may prove to represent another disease specific MRS pattern of the brain.

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Author and article information

Contributors

: rachida_sa@yahoo.fr

Journal

Journal ID (nlm-ta): Clin Neuroradiol

Title: Clinical Neuroradiology

Publisher: Springer-Verlag (Berlin/Heidelberg )

ISSN (Print): 1869-1439

ISSN (Electronic): 1869-1447

Publication date (Electronic): 10 December 2010

Publication date PMC-release: 10 December 2010

Publication date (Print): June 2011

Volume: 21

Issue: 2

Pages: 83-85

Affiliations

[1 ]Department of Radiology, Mohamed 5th Military Hospital, Rabat, Morocco

[2 ]CYM, Hay el Fath, IM 198 – App 8, Rabat, Morocco

[3 ]Department of Pediatrics, Mohamed 5th Military Hospital, Rabat, Morocco

Article

Publisher ID: 35

DOI: 10.1007/s00062-010-0035-4

PMC ID: 3145082

PubMed ID: 21153386

SO-VID: 0cdc5a1b-5754-440b-a0e5-835423da7bf1

History

Date received : 30 May 2010

Date accepted : 9 September 2010

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ScienceOpen disciplines: Radiology & Imaging

Keywords: magnetic resonance imaging,sandhoff disease,computed tomography,thalamic hyperdensity

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ScienceOpen disciplines: Radiology & Imaging

Keywords: magnetic resonance imaging, sandhoff disease, computed tomography, thalamic hyperdensity

A Case Report of Sandhoff Disease

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Abstract

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Most cited references 10

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

Juvenile Sandhoff disease--nine new cases and a review of the literature.

Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.

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