Multimodality Evoked Potentials and EEG in a Case of Cherry Red Spot-Myoclonus Syndrome and Alpha-Neuraminidase Deficiency (Sialidosis Type 1)

1995 ◽  
Vol 35 (3) ◽  
pp. 175-177 ◽  
Author(s):  
J.P. Louboutin ◽  
B. Nogues ◽  
C. Caillaud ◽  
B. Elie
Keyword(s):  
Evoked Potentials ◽  
Cherry Red Spot ◽  
Multimodality Evoked Potentials

Multimodality evoked potentials in myotonic dystrophy

1989 ◽  
Vol 10 (1) ◽  
pp. 61-67 ◽  
Author(s):  
F. Sartucci ◽  
F. Marconi ◽  
E. Busso ◽  
B. Rossi ◽  
L. Murri
Keyword(s):  
Evoked Potentials ◽  
Myotonic Dystrophy ◽  
Multimodality Evoked Potentials

Multimodality Evoked Potentials in Closed Head Trauma

1984 ◽  
Vol 41 (4) ◽  
pp. 369-374 ◽  
Author(s):  
D. C. Anderson ◽  
S. Bundlie ◽  
G. L. Rockswold
Keyword(s):  
Evoked Potentials ◽  
Head Trauma ◽  
Closed Head ◽  
Multimodality Evoked Potentials ◽  
Closed Head Trauma

scholarly journals Letter to the Editor: Evoked potentials and Chiari malformation Type 1

2017 ◽  
Vol 126 (2) ◽  
pp. 654-657
Author(s):  
Ori Barzilai ◽  
Jonathan Roth ◽  
Akiva Korn ◽  
Shlomi Constantini
Keyword(s):  
Evoked Potentials ◽  
Chiari Malformation ◽  
Letter To The Editor ◽  
Chiari Malformation Type 1

Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient

2020 ◽  
Author(s):  
Mahtab Ordooei ◽  
Razieh Fallah ◽  
Fatemeh Abdi ◽  
Fahimeh Soheilipour
Keyword(s):  
Lysosomal Storage ◽  
Gm1 Gangliosidosis ◽  
Case Presentation ◽  
Iranian Patient ◽  
Cherry Red Spot ◽  
Type 3 ◽  
Initial Check ◽  
Infantile Type

Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease due to a lack of β-galactosidase activity, exactly because of mutations in the GLB1 gene. GM1 gangliosidosis is a rare disease that could occur either during infancy (infantile type 1), as a juvenile (type 2), or in adulthood (type 3) in both nervous and skeletal systems. Type 1 is characterized by premature psychomotor deterioration, visceromegaly, macular cherry-red spot, skeletal deformities, and death in the first 2 years of life. Case Presentation: We reported an Iranian infant who, on initial check-up, had coarse face, visceromegaly, dystonia, and hepatosplenomegaly that increased at 15 months of age. At the initial check-up, a genetic test was performed and GM1 gangliosidosis type 1 was diagnosed. Conclusion: infant form is characterized by early-onset before the age of 6 months and rapidly progressive psychomotor deterioration, facial abnormalities, and visceromegaly.

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