Small fibre neuropathy in sarcoidosis

Sarcoidosis is characterized by multisystem granulomatous formation particularly in the chest. In this case report, we present an uncommon case highlighting significant peripheral nerve involvement, a phenomenon that is not well recognized  in sarcoidosis. The patient presented with severe incapacitating pain. Sarcoidosis as being the underlying cause was only established after extensive investigations. This case highlights the importance of recognizing small fibre peripheral polyneuropathy as a possible presentation of sarcoidosis. This could help to direct appropriate  medical intervention

Neurofascin-155 IgM autoantibodies in patients with inflammatory neuropathies

Objectives Recently, IgG autoantibodies against different paranodal proteins have been detected and this has led to important advances in the management of inflammatory neuropathies. In contrast, not much is known on IgM autoantibodies against paranodal proteins. Methods In the present study, we screened a large cohort of patients (n=140) with inflammatory neuropathies for IgM autoantibodies against neurofascin-155, neurofascin-186 or contactin-1. Results IgM autoantibodies against neurofascin-155 were detected by ELISA in five patients, four with inflammatory demyelinating polyradiculoneuropathy (CIDP) and one with Guillain-Barre syndrome (GBS), and were confirmed by ELISA-based preabsorption experiments and Western blot. Titres ranged from 1:100 to 1:400. We did not detect IgM anti-neurofascin-186 or anti-contactin-1 antibodies in this cohort. All patients presented with distally accentuated tetraparesis and hypesthesia. Remarkably, tremor was present in three of the patients with CIDP and occurred in the patients with GBS after the acute phase of disease. Nerve conduction studies revealed prolonged distal motor latencies and F wave latencies. Nerve biopsies showed signs of secondary axonal damage in three of the patients, demyelinating features in one patient. Teased fibre preparations did not demonstrate paranodal damage. Conclusion In summary, IgM neurofascin-155 autoantibodies may be worth testing in patients with inflammatory neuropathies. Their pathogenic role needs to be determined in future experiments

A Systematic Review of Pharmacologic and Rehabilitative Treatment of Small Fiber Neuropathies

The aim of this systematic review is to guide the physician in defining the pharmacologicand rehabilitative therapeutic approaches for adopting the best strategies described in the currentliterature. The search was conducted in PubMed, EMBASE, Cochrane Library and Web of Scienceto identify the treatment of small fiber neuropathies. Two reviewers independently reviewed andcame to a consensus on which articles met inclusion/exclusion criteria. The authors excluded theduplicates, animal studies and included the English articles in which the treatment of patients withsmall fiber neuropathies was described. The search identified a total of 975 articles with the keywords“small fiber neuropathy” AND “rehabilitation” OR “therapy” OR “treatment”. Seventy-eight selectedfull-text were analyzed by the reviewers. Forty-two publications met the inclusion criteria and wereincluded in the systematic review to describe the rehabilitative and pharmacologic treatment of smallfiber neuropathies. Despite the range of different protocols of treatment for small fiber neuropathy,other robust trials are needed. In addition, always different therapeutic approaches are used; a uniqueprotocol could be important for the clinicians. More research is needed to build evidence for the beststrategy and to delineate a definitive therapeutic protocol

Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain

Introduction Small fiber neuropathies (SFN) are associated with a reduction in quality of life. In adults, epidermal nerve fiber density (END) analysis is recommended for the diagnosis of SFN. In children, END assessment is not often performed. We analyzed small nerve fiber innervation to elucidate the potential diagnostic role of skin biopsies in young patients with pain. Methods Epidermal nerve fiber density and sudomotor neurite density (SND) were assessed in skin biopsies from 26 patients aged 7 to 20 years (15 female patients) with unexplained chronic pain. The results were compared with clinical data. Results Epidermal nerve fiber density was abnormal in 50% and borderline in 35% of patients. An underlying medical condition was found in 42% of patients, including metabolic, autoimmune, and genetic disorders. Discussion Reduction of epidermal nerve fibers can be associated with treatable conditions. Therefore, the analysis of END in children with pain may help to uncover a possible cause and guide potential treatment options

Case Report: A Patient with Gait Dysfunction with Acute Inflammatory Demyelinating Polyneuropathy Masquerading as Diabetic Polyneuropathy

New onset gait dysfunction often prompts admission to the hospital for further evaluation. The typical patient is an elderly person who normally is self-sufficient but had recently experienced a decline in their ability to care for themselves. Sometimes, however, those who present with gait dysfunction do not fit the expected demographic. These individuals raise concern for less common “zebra” presentations of neurological dysfunction. We describe one such rare case of a 39-year-old female with a new onset of type 2 diabetes mellitus and recent COVID-19 infection that presented to the emergency department with a sensation of bilateral lower extremity burning with sensorineural changes, weakness, and an inability to ambulate. Emergency department labs and preliminary imaging were grossly unremarkable. Treatment as an inpatient with IViG led to significant improvement in symptoms. Gait dysfunction is a common presentation in the ED. Recognizing abnormalities to the typical demographic and presentation are important in proper disease workup and remaining vigilant in the face of atypical diagnoses

Mechanisms of nerve damage in neuropathies associated with hematological diseases: lesson from nerve biopsies

Despite the introduction of non-invasive techniques in the study of peripheral neuropathies, sural nerve biopsy remains the gold standard for the diagnosis of several neuropathies, including vasculitic neuropathy and neurolymphomatosis. Besides its diagnostic role, sural nerve biopsy has helped to shed light on the pathogenic mechanisms of different neuropathies. In the present review, we discuss how pathological findings helped understand the mechanisms of polyneuropathies complicating hematological diseases

GBS100: Celebrating a Century of Progress in Guillain-Barré Syndrome

No abstract available