Pearls &amp; Oy-sters: The importance of atypical features and tracking progression in patients misdiagnosed with ALS

Jacobson, Ryan; Goutman, Stephen A.; Callaghan, Brian C.

doi:10.1212/wnl.0000000000002522

Cited by 14 publications

(16 citation statements)

References 8 publications

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“…As reported in several studies [ 13 , 14 ], the proximity of UMN and LMN structures in the cervical spine makes cervical myeloradiculopathy (CM) one of the most common differential diagnoses in cases of suspected ALS. A recent retrospective study conducted in Argentina [ 15 ] reports that among 368 patients with initially suspected ALS, 11.7% were finally diagnosed with a different disease; among those, 32.6% of the cases (i.e., 3.8% of the whole sample, corresponding to 14 patients) were finally represented by compressive myelopathy.…”

Section: Discussionmentioning

confidence: 99%

ALS Mimics due to Affection of the Cervical Spine: From Common Compressive Myelopathy to Rare CSF Epidural Collection

et al. 2021

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Amyotrophic lateral sclerosis (ALS) is a clinically heterogeneous disease, with chameleon presentations and several mimics. Considering the poor prognosis of ALS, their precise and timely identification is pivotal. Affection of the cervical spine represents one potential source of ALS mimics that should never be missed, since it is potentially treatable. We hereby present 5 cases initially diagnosed as ALS but eventually found to have different kinds of cervical spine affection, from a common compressive myelopathy to a rare space-occupying cystic fluid collection.

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Section: Discussionmentioning

confidence: 99%

ALS Mimics due to Affection of the Cervical Spine: From Common Compressive Myelopathy to Rare CSF Epidural Collection

et al. 2021

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“…As there are no speci c tests for ALS, a detailed set of diagnostic criteria has been established 2 . However, some patients with ALS patients do not ful ll the clinical criteria on ALS particularly at the early stage, and they are misdiagnosed with different neurological and medical disorders 1,3 . Importantly, a misdiagnosis of cervical spondylotic myelopathy (CSM) is an important problem.…”

Section: Introductionmentioning

confidence: 99%

Elevated CSF Neuron-specific Enolase Levels in Amyotrophic Lateral Sclerosis (Als): A Useful Biomarker for Distinguishing ALS From Cervical Spondylotic Myelopathy

Tsukahara

Hosokawa

Nishioka

et al. 2021

Preprint

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The current study aimed to evaluate whether cerebrospinal fluid (CSF) neuron-specific enolase (NSE) levels are elevated in amyotrophic lateral sclerosis (ALS) and are effective in distinguishing ALS from cervical spondylotic myelopathy (CSM). We retrospectively evaluated 45 patients with ALS, 23 with CSM, and 28 controls who underwent analysis of CSF NSE levels. The control group comprised patients aged above 45 years who underwent lumbar puncture because of suspected neurological disorders that were ruled out after extensive investigations. CSF NSE levels were evaluated using the electro-chemiluminescent immunoassay. The ALS group had significantly higher CSF NSE levels than the CSM and control groups (P < 0.001 for both comparisons). The CSM and control groups did not significantly differ in terms of CSF NSE levels. A receiver-operating characteristic curve analysis was performed to assess the diagnostic value of CSF NSE levels in distinguishing ALS from CSM. The area under the curve for CSF NSE levels was 0.86. The optimal cutoff value was 17.7 ng/mL, with a specificity of 87% and a sensitivity of 80%. Hence, CSF NSE levels are elevated in ALS and are effective in distinguishing ALS from CSM.

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“…However, when applying those criteria, 4 to 10% of all initial ALS diagnoses are incorrect [9,10]. Through follow-up, around 20% of them will be later re-diagnosed to suffer from MMN, which is one of the most common ALS mimics [10].…”

Section: Introductionmentioning

confidence: 99%

“…So far, MMN, MADSAM and ALS diagnoses have been commonly based on clinical and electrophysiological grounds [ 5 , 6 , 7 , 8 ]. However, when applying those criteria, 4 to 10% of all initial ALS diagnoses are incorrect [ 9 , 10 ]. Through follow-up, around 20% of them will be later re-diagnosed to suffer from MMN, which is one of the most common ALS mimics [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Peripheral Nerve Imaging Aids in the Diagnosis of Immune-Mediated Neuropathies—A Case Series

et al. 2020

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Background: Diagnosis of immune-mediated neuropathies and their differentiation from amyotrophic lateral sclerosis (ALS) can be challenging, especially at early disease stages. Accurate diagnosis is, however, important due to the different prognosis and available treatment options. We present one patient with a left-sided dorsal flexor paresis and initial suspicion of ALS and another with multifocal sensory deficits. In both, peripheral nerve imaging was the key for diagnosis. Methods: We performed high-resolution nerve ultrasound (HRUS) and 7T or 3T magnetic resonance neurography (MRN). Results: In both patients, HRUS revealed mild to severe, segmental or inhomogeneous, nerve enlargement at multiple sites, as well as an area increase of isolated fascicles. MRN depicted T2 hyperintense nerves with additional contrast-enhancement. Discussion: Peripheral nerve imaging was compatible with the respective diagnosis of an immune-mediated neuropathy, i.e., multifocal motor neuropathy (MMN) in patient 1 and multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) in patient 2. Peripheral nerve imaging, especially HRUS, should play an important role in the diagnostic work-up for immune-mediated neuropathies and their differentiation from ALS.

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Pearls & Oy-sters: The importance of atypical features and tracking progression in patients misdiagnosed with ALS

Cited by 14 publications

References 8 publications

ALS Mimics due to Affection of the Cervical Spine: From Common Compressive Myelopathy to Rare CSF Epidural Collection

ALS Mimics due to Affection of the Cervical Spine: From Common Compressive Myelopathy to Rare CSF Epidural Collection

Elevated CSF Neuron-specific Enolase Levels in Amyotrophic Lateral Sclerosis (Als): A Useful Biomarker for Distinguishing ALS From Cervical Spondylotic Myelopathy

Peripheral Nerve Imaging Aids in the Diagnosis of Immune-Mediated Neuropathies—A Case Series

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