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Literature DB >> 9802482

Neuroimaging findings in late infantile GM1 gangliosidosis.

C Y Chen¹, R A Zimmerman, C C Lee, F H Chen, Y S Yuh, H S Hsiao.

Abstract

Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without facial dysmorphism or visceral organomegaly. We report the CT and MR imaging findings in one infant, which included abnormalities of the cerebral cortex, white matter, and deep nuclei.

Entities: Disease Species

Mesh：

Year: 1998 PMID： 9802482 PMCID： PMC8337479

Source DB: PubMed Journal: AJNR Am J Neuroradiol ISSN： 0195-6108 Impact factor: 3.825

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Cited

14 in total

1. Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy.

Authors: Koray Koç; Pınar Koç; Kamil Karaali; Nihal Olgaç Dündar; Utku Şenol; Arzu Canan
Journal: Neuroradiol J Date: 2015-10-01

2. Van der Knaap disease: a rare disease with atypical features.

Authors: Ujjawal Roy; Bhushan Joshi; Goutam Ganguly
Journal: BMJ Case Rep Date: 2015-07-23

3. Chronic GM1 Gangliosidosis with Characteristic "Wish Bone Sign" on Brain MRI. Another Type of Neurodegeneration with Brain Iron Accumulation?

Authors: Omkar Hajirnis; Anaita Udwadia-Hegde
Journal: Mov Disord Clin Pract Date: 2015-06-02

4. Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration.

Authors: Prafulla Kumar Dash; Dinesh Harvey Raj; Hrushikesh Sahu
Journal: BMJ Case Rep Date: 2015-09-21

5. Sustained normalization of neurological disease after intracranial gene therapy in a feline model.

Authors: Victoria J McCurdy; Aime K Johnson; Heather L Gray-Edwards; Ashley N Randle; Brandon L Brunson; Nancy E Morrison; Nouha Salibi; Jacob A Johnson; Misako Hwang; Ronald J Beyers; Stanley G Leroy; Stacy Maitland; Thomas S Denney; Nancy R Cox; Henry J Baker; Miguel Sena-Esteves; Douglas R Martin
Journal: Sci Transl Med Date: 2014-04-09 Impact factor: 17.956

Neuroimaging findings in late infantile GM1 gangliosidosis.

1. Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy.

2. Van der Knaap disease: a rare disease with atypical features.

3. Chronic GM1 Gangliosidosis with Characteristic "Wish Bone Sign" on Brain MRI. Another Type of Neurodegeneration with Brain Iron Accumulation?

4. Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration.

5. Sustained normalization of neurological disease after intracranial gene therapy in a feline model.

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Review 8. In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Review 9. Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).

Review 10. Pediatric neurodegenerative white matter processes: leukodystrophies and beyond.