Magnetic Resonance Imaging Findings and Novel Mutations in GM1 Gangliosidosis

Gururaj, Aithala; Sztriha, László; Hertecant, Josef; Johansen, J. G.; Georgiou, Theodoros; Campos, Yvan; Drousiotou, Anthi; d’Azzo, Alessandra

doi:10.1177/08830738050200010901

Cited by 23 publications

(18 citation statements)

References 9 publications

(9 reference statements)

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“…One study reported progressive neurodamage on neuroimaging of a patient diagnosed with GM1 gangliosidosis from the age of 18 months, MRI series showed progression of hypomyelination, cerebral and cerebellar atrophy with involvement of the white matter and cerebral cortex without affecting basal ganglia [6]. This case report highlights the MRI imaging in a late infantile Tay Sac's disease (GM2 gangliosidoses) which have been rarely reported previously.…”

Section: Discussionmentioning

confidence: 50%

White Matter Changes in GM2 Gangliosidosis

D¹,

Mishra²

2017

JCR

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Background: GM2 gangliosidosis is a neuro-metabolic disorder due to deficiency of β hexosaminidase activity in lysosomes. Case Report: One and half year old male child presented with regression of milestones and seizures since age of 8 months. Clinical examination showed hypotonia, exaggerated deep tendon reflexes and cherry red spot. MRI brain showed predominant white matter degenerative changes along with grey matter involvement. Enzyme assay for GM2 gangliosidosis showed decreased β hexosaminidase activity. Conclusion: We highlight the white matter changes in late infantile GM2 gangliosidosis.

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Section: Discussionmentioning

confidence: 50%

White Matter Changes in GM2 Gangliosidosis

D¹,

Mishra²

2017

JCR

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“…8 High T2-weighted signal intensity of the supratentorial white matter, consistent with abnormal myelination, has also been reported. 3,4,7 We did not find similar abnormalities in our patients, in whom the thalami and the white matter showed normal signal intensity. Instead, both our patients presented with predominant abnormal signal intensities in the globus pallidum, consistent with paramagnetic ion deposition, and additional putaminal hyperintensities that might have suggested Wilson disease as a presumptive diagnosis.…”

Section: Discussionmentioning

confidence: 56%

“…2 Reports on the neuroimaging features of the very rare late infantile GM1 gangliosidosis are scant and have mainly included brain atrophy and white matter and basal ganglia abnormalities. 3,4 We report 2 young patients in whom MR imaging predominantly showed evidence of globus pallidum paramagnetic ion accumulation.…”

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confidence: 99%

MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis

Grandis

Rocco

Pessagno

et al. 2009

AJNR Am J Neuroradiol

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SUMMARY:Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial dysmorphisms and organomegaly. Neuroimaging findings have been reported in only a few cases. Here we report on predominant globus pallidus MR signal-intensity abnormalities in 2 patients with the late infantile form of GM1 gangliosidosis. GM1 gangliosidosis is a rare metabolic disorder due to deficiency of the lysosomal enzyme ␤-galactosidase, resulting in accumulation of GM1 gangliosides and other glycoconjugates in the brain and visceral organs. There are 3 clinical forms correlating with the degree of residual activity of the mutant enzyme. The infantile form (type 1) is a severe degenerative encephalopathy presenting between birth and 6 months with coarse facial features, skeletal dysostosis, and hepatosplenomegaly, leading to death within the first 2 years of life. Patients with the late infantile or juvenile form (type 2) present after 1 year of age with motor delay in the absence of dysmorphisms and organomegaly; later, mental deterioration and spastic, cerebellar, and extrapyramidal signs dominate the neurologic picture, probably as a consequence of predominant basal ganglia storage of gangliosides.1 The adult form (type 3) has a slowly progressive course and predominant extrapyramidal features without visceral or skeletal changes. 2Reports on the neuroimaging features of the very rare late infantile GM1 gangliosidosis are scant and have mainly included brain atrophy and white matter and basal ganglia abnormalities.3,4 We report 2 young patients in whom MR imaging predominantly showed evidence of globus pallidum paramagnetic ion accumulation. Case Reports Case 1This 8-year-old boy presented with developmental delay and recent swallowing difficulties. He was born at term from consanguineous parents. Family history was negative. He started to walk at 2 years of age and had language delay. At 8 years, he had a generalized seizure. Findings of the physical examination were normal with no dysmorphic features or hepatosplenomegaly. Neurologic examination revealed extrapyramidal rigidity and dystonic postures affecting particularly the upper limbs. Speech was severely impaired because of oromandibular dystonia. He was dysmetric and had an ataxic gait. Reflexes were normal. Routine blood tests, ␣-fetoprotein, vitamin E, copper, and ceruloplasmin titers were negative. Metabolic work-up, including blood and urine chromatography of amino acids and urinary organic acids, and peroxysomal function tests, were unremarkable. Fundoscopy findings, visual and brain stem auditory evoked potentials, and nerve conduction velocity were normal, whereas electromyography disclosed mild neurogenic abnormalities. Electroencephalography showed nonspecific bilateral occipitotemporal slow waves. Lysosomal enzyme assay in cultured skin fibroblasts revealed a ␤-galactosidase activity of 5.8 nmol/mg/h (normal mean, 145 Ϯ 32 nmol/mg/h). Spine x-rays revea...

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Section: Discussionmentioning

confidence: 99%

“…[9][10][11][12][13][14] In our patient, the brain MRI showed the typical diffuse and severe reduction of myelination in the central white matter and increased T2-weighted signal in the thalami and basal ganglia ( Figure 1A, B). [10][11][12][13] It also showed a lack of myelination in the central aspect of the cerebellar hemispheres on T2-weighted images and a diffusely and severely thinned corpus callosum. Cerebellar involvement was previously reported in only 1 patient described by Di Rocco et al 13 A characteristic pattern of radial stripes of low signal intensity within the hyperintense white matter has also been observed in a single case of GM 1 gangliosidosis, as well as other lysosomal storage disorders (ie, metachromatic leukodystrophy and Krabbe disease).…”

Section: Discussionmentioning

confidence: 99%

Brain Proton Magnetic Resonance Spectroscopy and Neuromuscular Pathology in a Patient With GM1 Gangliosidosis

et al. 2007

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The authors report the clinical, neuroradiologic, and neuromuscular pathological findings in a patient with GM1 gangliosidosis. The proton magnetic resonance spectroscopy, previously reported in a single patient with GM1 gangliosidosis, detected a mild reduction of N-acetylaspartate, consistent with relative paucity of axons and neurons and increased levels of myoinositol suggestive of gliotic white matter changes along with the accumulation of an additional compound that could represent either guanidinoacetate or Gal beta 1-6Gal beta 1-4)GlcNAc, an oligosaccharide previously isolated from the urine of GM1 gangliosidosis patients. Although these findings will have to be further confirmed in more patients with GM1 gangliosidosis, they suggest that proton magnetic resonance spectroscopy may provide useful end points to assess the efficacy of novel treatments that could soon become clinically available. Histologically, no significant alterations were found in axons, but there was evidence of redundant and inappropriately folded myelin, which is a feature attributed to disturbed axon-glial interactions.

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Magnetic Resonance Imaging Findings and Novel Mutations in GM1 Gangliosidosis

Cited by 23 publications

References 9 publications

White Matter Changes in GM2 Gangliosidosis

White Matter Changes in GM2 Gangliosidosis

MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis

Brain Proton Magnetic Resonance Spectroscopy and Neuromuscular Pathology in a Patient With GM1 Gangliosidosis

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