成人发病山德霍夫病:一种罕见的肌萎缩性侧索硬化症

IF 2.5 4区医学 Q2 CLINICAL NEUROLOGY

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Pub Date : 2020-01-02 DOI:10.1080/21678421.2019.1663214

Maria Khoueiry, Elia G. Malek, J. Salameh

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引用次数: 4

摘要

Sandhoff病是一种未被充分认识的疾病，可能在成年期表现为较低的运动神经元障碍。我们报告一例兄弟姐妹在40多岁时出现运动神经元疾病表型，并被误诊为肌萎缩侧索硬化症，后来发现有桑德霍夫病。以缓慢进展为主的下运动神经元紊乱患者应考虑桑德霍夫病。一种简单的低成本血液检查就能确诊。

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Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis

Abstract Sandhoff disease is an under-recognized disease that may present as a lower motor neuron disorder in adulthood. We report the case of siblings presenting in their late 40s with a motor neuron disease phenotype and were misdiagnosed as amyotrophic lateral sclerosis and later found to have Sandhoff disease. Sandhoff disease should be considered in patients presenting with a slowly progressive predominately lower motor neuron disorder. A simple low-cost blood test can confirm the diagnosis.

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来源期刊

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration CLINICAL NEUROLOGY-

CiteScore

5.40

自引率

10.70%

发文量

期刊介绍： Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration is an exciting new initiative. It represents a timely expansion of the journal Amyotrophic Lateral Sclerosis in response to the clinical, imaging pathological and genetic overlap between ALS and frontotemporal dementia. The expanded journal provides outstanding coverage of research in a wide range of issues related to motor neuron diseases, especially ALS (Lou Gehrig’s disease) and cognitive decline associated with frontotemporal degeneration. The journal also covers related disorders of the neuroaxis when relevant to these core conditions.