Infantile Gangliosidosis
نویسندگان
چکیده
منابع مشابه
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. We report the CT and MR imaging findings in one infant, which included abnormalities of the cerebral cortex, white matter, and deep nuclei.
متن کاملGM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra.
BACKGROUND 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. PATIENT The patient in this study had dysmorphism, dysostosis, progressive dystonia, and T2 hypointensity in the basal gangl...
متن کاملMR imaging findings in 2 cases of late infantile GM1 gangliosidosis.
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. Here we report on predominant globus pallidus MR signal-intensity abnormalities in 2 patients with the late infantile...
متن کاملPurification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis.
Variant AB of infantile GM2 gangliosidosis is a fatal disease leading invariably to death within the first few years of life, due to the excessive storage of the glycolipids GM2 and GA2 which occurs in the nervous tissue of the patient. Unlike other variants of this hereditary disease, where a deficiency of hexosaminidase A, the ganglioside-GM2-degrading enzyme, could be demonstrated, the varia...
متن کاملGM1 Gangliosidosis Test
The GM1 Gangliosidosis Test provides a high quality read-out of all exons of GLB1 gene. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and express service TAT 7-10 days). The GM1 Gangliosidosis Test has undergone rigorous validation process...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1988
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-2-8-4