155V 52 15 2015EPORTS 156V 52 15 2015EPORTSTSMoreover optic atrophy is a rare eye manifestation seen in optic atrophy is a rare eye manifestation seen inGM1 gangliosidosis have been rarely reporte ID: 958948
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155V 52 15, 2015EPORTS gene mutation. 156V 52 15, 2015EPORTSTSMoreover, optic atrophy is a rare eye manifestation seen in, optic atrophy is a rare eye manifestation seen inGM1 gangliosidosis have been rarely reported. Gururaj, etal. [2] reported MRI findings in two infants with GM1abnormal appearance of the subcortical white matter,internal capsule, and basal ganglia. Thalamic hyperdensityon CT scans and hypointense signal of the thalami on T2-T2-This case report highlights the MRI imaging and eyefindings in late infantile GM1 gangliosidosis which havebeen rarely reported previously. This report broadens thephenotypic spectrum of this disorder. Infantile GM1radiological picture of late infantile GM1 is entirelydifferent from infantile GM1 gangliosidosis. MT: clinical evalua
tion of child; AMB: GLB1 gene; KMG: analysis of sequencing; SP:supervision and intellectual inputs. All authors contributed toCompeting interests1.Sperb F, Vairo F, Burin M, Mayer FQ, Matte U, Giuglianipatients with GM1 gangliosidosis. Gene. 2013;512:113-6.2.Gururaj A, Sztriha L, Hertecant J, Johansen JG, GeorgiouT, Campos Y, 3.Kobayashi, Takashima S. Thalamic hyperdensity on CT in4.Grandis E De, Rocco MD, Pessagno A, Venesseli E, Rossi5.Fei P, Qin M, Hu T. Ocular manifestations of patients with6.Cabral A, Portela R, Tasso T, Eusbio F, Moreira A, dosSantos HS, Ophthalmic Paediatr Genet. 1989;10:63-7.7.Sorcinelli R, Sitzia A, Loi M. Cherry-red spot, opticSequencing result of wild type of exon 9 of GLB1 gene; and (c) Sequencing r�esult of patient showing c.940TC (homozygous