scholarly journals Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1

2021 ◽  
Author(s):  
Debaleena Mukherjee ◽  
Sougata Bhattacharya ◽  
Srimant Pattnaik ◽  
Subhadeep Gupta ◽  
Biman Kanti Ray ◽  
...  
Keyword(s):  
Cherry Red Spot

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.

Sialidosis Type 1 Without Cherry-Red Spot

2019 ◽  
Vol 39 (3) ◽  
pp. 388-390
Author(s):  
Alaa S. Bou Ghannam ◽  
Lauren C. Mehner ◽  
Victoria S. Pelak
Keyword(s):  
Cherry Red Spot

A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome

2009 ◽  
Vol 16 (8) ◽  
pp. 912-919 ◽  
Author(s):  
S.-C. Lai ◽  
R.-S. Chen ◽  
Y.-H. Wu Chou ◽  
H.-C. Chang ◽  
L.-Y. Kao ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Cherry Red Spot ◽  
Insight Into

scholarly journals Looking “Cherry Red Spot Myoclonus” in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1

2021 ◽  
Vol 11 (1) ◽  
pp. 53
Author(s):  
Giulietta M. Riboldi ◽  
John Martone ◽  
John-Ross Rizzo ◽  
Todd E. Hudson ◽  
Janet C. Rucker ◽  
...  
Keyword(s):  
Eye Movements ◽  
Treatment Response ◽  
Clinical Phenotype ◽  
Cherry Red Spot

scholarly journals Unusual case of Juvenile Tay-Sachs disease

2019 ◽  
Vol 12 (9) ◽  
pp. e230140
Author(s):  
Huma A Cheema ◽  
Nadia Waheed ◽  
Anjum Saeed
Keyword(s):  
Autosomal Recessive ◽  
Unusual Case ◽  
Neurodegenerative Disorder ◽  
Sphingolipid Metabolism ◽  
Tay Sachs Disease ◽  
First Case ◽  
Hexosaminidase A ◽  
Cherry Red Spot ◽  
Autosomal Recessive Manner

Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs. It is a progressive neurodegenerative disorder transmitted in an autosomal-recessive manner. There is an accumulation of GM2 in neurocytes and retinal ganglions which result in progressive loss of neurological function and formation of the cherry-red spot which is the hallmark of TSD. We report the first case of juvenile TSD from Pakistan in a child with death of an older sibling without the diagnosis.

scholarly journals Anesthetic management for mastectomy and total hysterectomy in a 49-year-old woman with type 1 sialidosis: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Tomonori Furuya ◽  
Masumi Itagaki ◽  
Nami Sugaya ◽  
Ryoji Iida ◽  
Takeshi Maeda ◽  
...  
Keyword(s):  
Epidural Anesthesia ◽  
Autosomal Recessive ◽  
Anesthetic Management ◽  
Careful Consideration ◽  
Intravenous Anesthesia ◽  
Case Presentation ◽  
Cognitively Normal ◽  
Total Hysterectomy ◽  
Cherry Red Spot

Abstract Background Sialidosis is an autosomal recessive glycoprotein storage disorder, caused by neuraminidase deficiency which leads to abnormal intracellular accumulation and urinary excretion of sialylated oligosaccharides, resulting in various morphological and functional disorders. Only a few reports have described the anesthetic managements of patients with sialidosis. Case presentation A 49-year-old woman with type 1 sialidosis suffered from all limb contractures, an ocular cherry-red spot, and myoclonic seizures of the limbs. She had been cognitively normal. She was separately scheduled for mastectomy under total intravenous anesthesia and total hysterectomy under combined general and epidural anesthesia uneventfully. Conclusions Our patient with type 1 sialidosis received both general and epidural anesthesia uneventfully. Anesthesiologists should carefully assess patients with sialidosis and give careful consideration to individually tailored anesthetic managements.

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