Neuroimaging findings in late infantile GM1 gangliosidosis.
نویسندگان
چکیده
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.
منابع مشابه
MR 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 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 کاملWhite matter changes in GM1 gangliosidosis.
BACKGROUND GM1 gangliosidosis is a disorder due to GLB1 gene mutation. CASE CHARACTERISTICS A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. OUTCOME Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. MESSAGE We highlight the white matter changes in late infantile GM1 gangliosidosis.
متن کاملInsights into post-translational processing of β-galactosidase in an animal model resembling late infantile human GM1-gangliosidosis
G(M1)-gangliosidosis is a lysosomal storage disorder caused by a deficiency of ss-galactosidase activity. Human GM1-gangliosidosis has been classified into three forms according to the age of clinical onset and specific biochemical parameters. In the present study, a canine model for type II late infantile human GM1-gangliosidosis was investigated 'in vitro' in detail. For a better understandin...
متن کاملPeripheral blood findings in GM1 gangliosidosis.
T his peripheral blood is from a 3-month-old male patient with a prior diagnosis of GM1 gangliosidosis type I, who was admitted with fever and leukocytosis. There is a family history of 2 siblings with GM1 gangliosidosis. Cellulitis was diagnosed and successfully treated with antibiotics. This photomicrograph depicts the typical peripheral blood findings in GM1 gangliosidosis: a vacuolated lymp...
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ورودعنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 19 9 شماره
صفحات -
تاریخ انتشار 1998