老虎之眼:超越脑铁积累障碍的神经变性。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2023-06-01 DOI:10.1055/s-0041-1723959

Prajnya Ranganath, Mallikarjun Patil

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引用次数: 0

摘要

脑磁共振成像(MRI)中的“虎眼”征通常与伴有脑铁积累障碍的神经变性有关，特别是泛酸激酶相关的神经变性。然而，在涉及基底神经节的其他神经退行性疾病中，也可以看到非常相似的神经影像学结果。我们在此报告一位有聚焦病变的患者，他的MRI脑部表现与“虎眼”征非常相似。

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Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders.

The "eye-of-the-tiger" sign in brain magnetic resonance imaging (MRI) is typically associated with neurodegeneration with brain iron accumulation disorders, especially pantothenate kinase-associated neurodegeneration. However, very similar neuroimaging findings may be seen in other neurodegenerative disorders involving the basal ganglia. We report here a patient with fucosidosis who had MRI brain findings closely resembling the "eye-of-the-tiger" sign.

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来源期刊

Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.