Abstract | BACKGROUND: CASE PRESENTATION: Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis. Horizontal nystagmus and cherry red spot was detected during ophthalmic examination. MRI of brain revealed putaminal hyperintensity and thalamic hypointensity with some unmyelinated white matter in T2/T1 weighted images. Initially he was suspected having Tay-Sachs disease and finally diagnosed as GM2 gangliosidosis, AB variant due to truncated protein caused by nonsense mutation c.472 G > T (p.E158X) in GM2Agene. CONCLUSION:
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Authors | Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Krati Shah |
Journal | BMC pediatrics
(BMC Pediatr)
Vol. 16
Pg. 88
(07 11 2016)
ISSN: 1471-2431 [Electronic] England |
PMID | 27402091
(Publication Type: Case Reports, Journal Article, Review, Research Support, Non-U.S. Gov't)
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Chemical References |
- Codon, Nonsense
- G(M2) Activator Protein
- Genetic Markers
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Topics |
- Codon, Nonsense
- G(M2) Activator Protein
(genetics)
- Genetic Markers
- Genetic Testing
- Humans
- Infant
- Male
- Tay-Sachs Disease, AB Variant
(diagnosis, genetics)
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