Neuroimaging in Sensory Neuronopathy

Casseb, Raphael Fernandes; Martinez, Alberto Rolim Muro; Paiva, Jean Levi Ribeiro de; França, Marcondes Cavalcante

doi:10.1111/jon.12210

Cited by 12 publications

(11 citation statements)

References 27 publications

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“…One should focus on the prompt identification of the classical clinical pictures. For atypical presentations, the challenge becomes even bigger, but detailed nerve conduction studies/electromyography and spinal cord imaging may help physicians recognize SN in this scenario 17,18,19 .…”

Section: Discussionmentioning

confidence: 99%

Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies

Martinez

Ribeiro

Lima

et al. 2019

Arq. Neuro-Psiquiatr.

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Sensory neuronopathy (SN) is characterized by primary dorsal root ganglia damage and typically manifests as sensory ataxia with multifocal non-length-dependent sensory deficits 1,2 . First described in 1948 by Dr. Derek Denny-Brown 3 , the full phenotypic spectrum and the identification of all SN-related disorders are still pursued 4 . In a way rarely seen ABSTRACT Sensory neuronopathies (SN) are a group of peripheral nerve disorders characterized by multifocal non-length-dependent sensory deficits and sensory ataxia. Its recognition is essential not only for proper management but also to guide the etiological investigation. The uncommon SN clinical picture and its rarity set the conditions for the misdiagnosis and the diagnostic delay, especially in non-paraneoplastic SN. Therefore, our objectives were to characterize the diagnostic odyssey for non-paraneoplastic SN patients, as well as to identify possible associated factors. Methods: We consecutively enrolled 48 non-paraneoplastic SN patients followed in a tertiary neuromuscular clinic at the University of Campinas (Brazil). All patients were instructed to retrieve their previous medical records, and we collected the data regarding demographics, disease onset, previous incorrect diagnoses made and the recommended treatments. Results: There were 34 women, with a mean age at the diagnosis of 45.9 ± 12.2 years, and 28/48 (58%) of the patients were idiopathic. Negative sensory symptoms were the heralding symptoms in 25/48 (52%); these were asymmetric in 36/48 (75%) and followed a chronic course in 35/48 (73%). On average, it took 5.4 ± 5.3 years for SN to be diagnosed; patients had an average of 3.4 ± 1.5 incorrect diagnoses. A disease onset before the age of 40 was associated to shorter diagnosis delay (3.7 ± 3.4 vs. 7.8 ± 6.7 years, p = 0.01). Conclusions: These results suggest that diagnostic delay and misdiagnosis are frequent in non-paraneoplastic SN patients. As in other rare conditions, increased awareness in all the healthcare system levels is paramount to ensure accurate diagnosis and to improve care of these patients.

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Section: Discussionmentioning

confidence: 99%

Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies

Martinez

Ribeiro

Lima

et al. 2019

Arq. Neuro-Psiquiatr.

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“…Sensory neuronopathy is a devastating peripheral nervous system (PNS) disorder that may present with loss of joint position, severe sensory ataxia, pseudo-athetotic movements, and can even relegate patients to wheelchairs when there is preserved strength. [ 1 – 7 ] The sensory neuronopathies may complicate a wide spectrum of diseases evaluated by different medical specialists, which include rheumatologists (sensory neuronopathies associated with Sjögren syndrome [SS] and systemic lupus erythematosus), gastroenterologists (associated with celiac disease and autoimmune hepatitis), hematologists and oncologists (associated with monoclonal gammopathies and paraneoplastic syndromes), pulmonologists (associated with sarcoidosis), and family medicine practitioners and internists (caring for systemic manifestations of these disorders). [ 1 – 7 ] There may only be a limited therapeutic window to intervene before patients may suffer from irreversible deficits.…”

Section: Introductionmentioning

confidence: 99%

“…[ 8 ] However, it may be underappreciated that spinal-cord lesions which affect the dorsal column can be detected in patients with sensory neuronopathies. [ 1 ] In such cases, dorsal column lesions result from the degeneration of the central afferent tracts between the dorsal root ganglia (DRG) and its synapse at the dorsal-horn. Such lesions may also be “longitudinally extensive,” defined as spanning ≥ 3 vertebral segments.…”

Section: Introductionmentioning

confidence: 99%

Magnetic resonance imaging of the spinal cord in the evaluation of 3 patients with sensory neuronopathies

Birnbaum¹,

Lalji

Piccione

et al. 2017

Medicine

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Rationale:Sensory neuronopathy can be a devastating peripheral nervous system disorder. Profound loss in joint position is associated with sensory ataxia, and reflects degeneration of large-sized dorsal root ganglia. Prompt recognition of sensory neuronopathies may constitute a therapeutic window to intervene before there are irreversible deficits. However, nerve-conduction studies may be unrevealing early in the disease course. In such cases, the appearance of dorsal column lesions on spinal-cord MRI can help in the diagnosis. However, most studies have not defined whether such dorsal column lesions may occur within earlier as well as chronic stages of sensory neuronopathies, and whether serial MRI studies can be used to help assess treatment efficacy. In this case-series of three sensory neuronopathy patients, we report clinical characteristics, immunological markers, nerve-conduction and skin-biopsy studies, and neuroimaging features.Patient concerns:All three patients presented with characteristic features of sensory neuronopathy with abnormal spinal-cord MRI studies. Radiographic findings included non-enhancing lesions in the dorsal columns that were longitudinally extensive (spanning ≥ 3 vertebral segments).Diagnoses:All patients had anti-Ro/SS-A and/or anti-La/SS-B antibodies, with patients one and two having Sjögren's syndrome. MRI findings were similar when performed in the earlier stages of a sensory neuronopathy (patient one, after four months) and chronic stages (patients two and three, after five and three years, respectively).Interventions:Patient one was treated with rituximab combined with intravenous immunoglobulin therapy.Outcomes:Patient one was initially wheelchair-bound and had improved ambulation after treatment. In this patient, serial MRI studies revealed partial resolution of dorsal column lesions, associated with decreased sensory ataxia and improved nerve-conduction studies.Lessons:In addition to vitamin B12 and copper deficiency, it is important to include sensory neuronopathies in the differential diagnosis of dorsal column lesions. MRI spinal-cord lesions have similar appearances in the earlier as well as chronic phases of a sensory neuronopathy, and therefore suggest that such dorsal column lesions may reflect inflammatory as well as a gliotic burden of injury. MRI may also be a useful longitudinal indicator of treatment response.

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“…Wegweisend für die Diagnosestellung einer SN kann eine MRT mit Nachweis von Signalveränderungen in den Hinterwurzelganglien und Hintersträngen sein[22]. ▪ Bei autoimmuner autonomer Ganglionopathie können antiganglionäre Acetylcholin-Rezeptor-AK oder Antikörper gegen Calcium-Kanäle vom N-Typ nachweisbar sein.…”

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Immunvermittelte / inflammatorische und hereditäre Neuropathien – Übersicht und diagnostischer Algorithmus

Schlotter‐Weigel

Senderek

2018

Fortschr Neurol Psychiatr

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ZusammenfassungDiese Arbeit gibt eine praxisnahe Übersicht über immunvermittelte / inflammatorische und hereditäre Neuropathien mit Empfehlungen zur weiterführenden Diagnostik. Zur großen Gruppe der immunvermittelten / inflammatorischen Neuropathien zählen u. a. das Guillain-Barré-Syndrom und die chronisch-inflammatorische demyelinisierende Polyradikuloneuropathie mit ihren Subtypen, die vaskulitischen, paraneoplastischen, paraproteinämischen und die Kollagenose-assoziierten Neuropathien. Neben den klinischen Besonderheiten wie zeitlichem Verlauf und Verteilungstyp werden charakteristische Befunde der Elektroneurografie und Antikörper-Diagnostik berücksichtigt. Bei den hereditären Neuropathien sprechen neue Studien für eine Prävalenz von 10–28 pro 100 000 Einwohner in Europa. In den letzten 20 Jahren hat die molekulargenetische Diagnostik bei hereditären Neuropathien große Fortschritte gemacht. Mittlerweile sind über 80 Neuropathie-Gene bekannt. Neben der elektroneurografischen Einteilung in demyelinisierende, axonale und intermediäre Formen sind die Unterscheidung in sensomotorische, motorische, sensible oder autonom-sensible Neuropathien sowie die Berücksichtigung von klinischen Besonderheiten und ethnischer Zugehörigkeit hilfreich für die Bahnung der molekulargenetischen Diagnostik.

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Neuroimaging in Sensory Neuronopathy

Cited by 12 publications

References 27 publications

Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies

Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies

Magnetic resonance imaging of the spinal cord in the evaluation of 3 patients with sensory neuronopathies

Immunvermittelte / inflammatorische und hereditäre Neuropathien – Übersicht und diagnostischer Algorithmus

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