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Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000006362
Abstract: A 9-year-old girl presented to us with insidious onset difficulty in walking, recurrent falls, anxiety, and poor scholastic performance from age 5 years. Her MRI findings (figure) were classic of L-2-hydroxyglutaric aciduria (L2-HGA). However, similar…
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Keywords:
aciduria;
neuroimages imaging;
imaging metabolic;
hydroxyglutaric aciduria ... See more keywords
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Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000009438
Abstract: A 17-year-old girl presented with subacute decline in ambulation, ataxia, generalized weakness, dysphagia, and asymmetric hearing loss. MRI findings include abnormal signal in medial thalami, mesencephalon, posterior pons, and medulla oblongata (figure). Magnetic resonance spectroscopy…
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Keywords:
epilepsy ragged;
teaching neuroimages;
red fibers;
myoclonic epilepsy ... See more keywords
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Published in 2021 at "Neurology"
DOI: 10.1212/wnl.0000000000011286
Abstract: A 6-year-old boy of nonconsanguineous parents presented with global developmental delay since infancy with history of 2 episodes of seizures in early childhood. Examination showed hyperactivity, subnormal cognition, tight heel cords, weakness of limbs along…
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Keywords:
teaching neuroimages;
imaging clue;
neuroimages imaging;
developmental delay ... See more keywords