Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis
M Khoueiry, E Malek, JS Salameh - Amyotrophic Lateral Sclerosis …, 2020 - Taylor & Francis
M Khoueiry, E Malek, JS Salameh
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020•Taylor & FrancisSandhoff 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.
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.
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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