{"title":"Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis","authors":"Maria Khoueiry, Elia G. Malek, J. Salameh","doi":"10.1080/21678421.2019.1663214","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":"21 1","pages":"144 - 146"},"PeriodicalIF":2.5000,"publicationDate":"2020-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1663214","citationCount":"4","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/21678421.2019.1663214","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 4
Abstract
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.
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.