Summary: late infantile gm1 gangliosidosis is an ex-tremely 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. Type ii gm1 gangliosidosis consists of intermediate forms of the condition, also known as the late infantile and juvenile forms children with gm1 gangliosidosis type ii have normal early development, but they begin to develop signs and symptoms of the condition around the age of 18 months (late infantile form) or 5 years (juvenile form.
Gm1 gangliosidosis is a rare disease due to mutations in the glb1 gene and autosomal recessive deficiency of β-galactosidase there is considerable overlap between classical phenotypes and clinical and imaging findings, which are often difficult to interpret. Neuroimaging findings in patients with infantile gm1 gangliosidosis have been reported only in a few cases in this study, mrs of the thalamus was performed to study the metabolic changes in gm1 gangliosidosis. Request pdf on researchgate | neuroimaging findings in late infantile gm1 gangliosidosis | 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.
Neuroimaging findings in gm1 gangliosidosis dinesh s baviskar, devang j desai, inder talwar, sunila t jaggi we report neuroimaging findings in an 18-month-old baby who presented with progressive spasticity, delayed milestones, facial dysmorphic features and macrocephaly.
Although the neuroimaging findings of gm1 gan- gliosidoses are unique in our case, these findings could also be identified in gm2 gangliosidoses and, to some extent, in late-stage canavan disease patients with late-stage canavan disease may have dense thal- ami on t1-weighted images, as well as white matter necrosis, resulting in cavitation, and brain stem and cerebellar atrophy, which are not observed in gm1.
Summary: late infantile gm1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial dysmorphisms and organomegaly neuroimaging findings have been reported in only a few cases. Neuroimaging findings in late infantile gm1 gangliosidosis neuroimaging findings in late infantile gm1 gangliosidosis. Late-infantile gm1-gangliosidosis is considered to be a subset of juvenile gm1-gangliosidosis in late-infantile gm1-gangliosidosis, symptoms appear usually between one to two years of age, with death in mid to late childhood .