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

Birnbaum, Julius; Lalji, Aliya; Piccione, E; Izbudak, Izlem

doi:10.1097/md.0000000000008483

Cited by 7 publications

(2 citation statements)

References 55 publications

(59 reference statements)

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“…Because large-fiber cell bodies are often also attacked, patients can have ataxia or reduced proprioception, hyporeflexia and abnormal nerve conduction study results, or somatosensory-evoked potentials. Magnetic resonance imaging may become useful …”

Section: Non–length-dependent and Patchy Presentationsmentioning

confidence: 99%

Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy

2019

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IMPORTANCE Small-fiber polyneuropathy involves preferential damage to the thinly myelinated A-delta fibers, unmyelinated C sensory fibers, or autonomic or trophic fibers. Although this condition is common, most patients still remain undiagnosed and untreated because of lagging medical and public awareness of research advances. Chronic bilateral neuropathic pain, fatigue, and nausea are cardinal symptoms that can cause disability and dependence, including pain medication dependence.OBSERVATIONS Biomarker confirmation is recommended, given the nonspecificity of symptoms. The standard test involves measuring epidermal neurite density within a 3-mm protein gene product 9.5 (PGP9.5)-immunolabeled lower-leg skin biopsy. Biopsies and autonomic function testing confirm that small-fiber neuropathy not uncommonly affects otherwise healthy children and young adults, in whom it is often associated with inflammation or dysimmunity. A recent meta-analysis concluded that small-fiber neuropathy underlies 49% of illnesses labeled as fibromyalgia. Initially, patients with idiopathic small-fiber disorders should be screened by medical history and blood tests for potentially treatable causes, which are identifiable in one-third to one-half of patients. Then, secondary genetic testing is particularly important for familial and childhood cases. Treatable genetic causes include Fabry disease, transthyretin and primary systemic amyloidosis, hereditary sensory autonomic neuropathy-1, and ion-channel mutations. Immunohistopathologic evidence suggests that small-fiber dysfunction and denervation, especially of blood vessels, contributes to diverse symptoms, including postexertional malaise, postural orthostatic tachycardia, and functional gastrointestinal distress. Preliminary evidence implicates acute or chronic autoreactivity in some cases, particularly in female patients and otherwise healthy children and young adults. Different temporal patterns akin to Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy have been described; here, corticosteroids and immunoglobulins, which are often efficacious for inflammatory neuropathic conditions, are increasingly considered.CONCLUSIONS AND RELEVANCE Because small fibers normally grow throughout life, improving contributory conditions may permit regrowth, slow progression, and prevent permanent damage. The prognosis is often hopeful for improving quality of life and sometimes for abatement or resolution, particularly in the young and otherwise healthy individuals. Examples include diabetic, infectious, toxic, genetic, and inflammatory causes. The current standard of care requires prompt diagnosis and treatment, particularly in children and young adults, to restore life trajectory. Consensus diagnostic and tracking metrics should be established to facilitate treatment trials.

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Section: Non–length-dependent and Patchy Presentationsmentioning

confidence: 99%

Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy

2019

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“…Small case series have demonstrated non-enhancing, longitudinally extensive dorsal column lesions in patients with sensory neuronopathies, indicative of the degeneration of central afferent connections between the DRG and dorsal columns 198. A small case series of patients with CISP suggested that MRI abnormalities such as nerve root enlargement or enhancement may be useful diagnostically in patients with normal nerve conduction study results 125.…”

Section: Diagnostic Approachmentioning

confidence: 99%

Diagnosis and management of sensory polyneuropathy

Gwathmey

Pearson

2019

BMJ

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Sensory polyneuropathies, which are caused by dysfunction of peripheral sensory nerve fibers, are a heterogeneous group of disorders that range from the common diabetic neuropathy to the rare sensory neuronopathies. The presenting symptoms, acuity, time course, severity, and subsequent morbidity vary and depend on the type of fiber that is affected and the underlying cause. Damage to small thinly myelinated and unmyelinated nerve fibers results in neuropathic pain, whereas damage to large myelinated sensory afferents results in proprioceptive deficits and ataxia. The causes of these disorders are diverse and include metabolic, toxic, infectious, inflammatory, autoimmune, and genetic conditions. Idiopathic sensory polyneuropathies are common although they should be considered a diagnosis of exclusion. The diagnostic evaluation involves electrophysiologic testing including nerve conduction studies, histopathologic analysis of nerve tissue, serum studies, and sometimes autonomic testing and cerebrospinal fluid analysis. The treatment of these diseases depends on the underlying cause and may include immunotherapy, mitigation of risk factors, symptomatic treatment, and gene therapy, such as the recently developed RNA interference and antisense oligonucleotide therapies for transthyretin familial amyloid polyneuropathy. Many of these disorders have no directed treatment, in which case management remains symptomatic and supportive. More research is needed into the underlying pathophysiology of nerve damage in these polyneuropathies to guide advances in treatment.

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Dysimmune small fiber neuropathies

Oaklander

2020

Dysimmune Neuropathies

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

Cited by 7 publications

References 55 publications

Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy

Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy

Diagnosis and management of sensory polyneuropathy

Dysimmune small fiber neuropathies

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