A 21-year-old soldier was admitted due to weakness after carrying a heavy military bag and marching for a long time. Neurophysiologic investigation revealed prominent involvement of right brachial plexus and upper cervical root with mild abnormalities of multiple nerves in the other extremities. Hereditary neuropathy with liability to pressure palsy was confirmed by gene test demonstrating deletion of PMP22 gene. This study presents backpack palsy can appear as a first manifestation of hereditary neuropathy with liability to pressure. The possibility of hereditary neuropathy with liability should be strongly considered in a young patient with non-symptomatic multiple neuropathy.
Paraproteinemia is caused by a proliferation of monoclonal plasma cells or B lymphocytes. Approximately 10% of idiopathic neuropathies are associated with paraproteinemia, where a certain paraprotein acts like an antibody targeted at constituents of myelin or axolemma in peripheral nerves. The relationship between paraproteinemia and peripheral neuropathy remains unclear despite this being of interest for a long time. Neurologists frequently find paraproteinemia during laboratory examinations of patients presenting with peripheral neuropathy, especially in the elderly. The possibility of a relationship with paraproteinemia should be considered in cases without an explainable cause. We review the causal association between paraproteinemia and neuropathy as well as clinical, laboratory, and electrophysiologic features, and the treatment options for paraproteinemic neuropathy.
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A Practical Review of Paraproteinemic Neuropathy Joong-Yang Cho Korean Journal of Neuromuscular Disorders.2022; 14(2): 23. CrossRef
Some patients with leprosy may present with atypical features, such as isolated peripheral neuropathy without skin lesions, or marked proprioceptive dysfunction. We report a 56-year-old female who presented with predominant proprioceptive loss without skin lesion, but was finally confirmed as leprous neuropathy by sural nerve biopsy. It is postulated that large myelinated fibers were affected by chronic immunological reactions triggered by inactive bacterial particles, producing a peripheral neuropathy presenting as predominant proprioceptive sensory loss without typical skin lesions.
Analysis of intraepidermal nerve fibers using skin biopsy is a recently developed technique, providing diagnosticinformation on small fiber neuropathies. The specimens are obtained by 3 mm punch biopsy, which is safe andminimally invasive. Immunohistochemical staining by Protein gene product (PGP) 9.5 demonstrate not onlyintraepidermal nerve fibers but dermal structures, such as sweat gland and erector papillae. Up to now, many studiesagree that intraepidermal nerve fiber density is dramatically reduced in various sensory neuropathies. The utility ofdensity measure was confirmed with high sensitivity in the diagnosis of sensory neuropathy, comparable to sural nervebiopsy or quantitative sensory testing. Besides quantitative methods, morphological changes like axonal swelling andfragmentation can be used as predegenerative markers. This article reviews the technique of skin biopsy and clinical andexperimental usefulness of skin biopsy in diagnosing and monitoring peripheral neuropathies.
Background Peripheral neuropathy is the most frequent neurological complication in human immunodeficiency virus (HIV)infection, related with diverse etiologies including inflammation, opportunistic infection and side effects of medications. Thepurpose of the present study was to evaluate characteristics of HIV associated neuropathy according to the stage of HIVinfection. Methods: In reviewing the medical records of HIV patients who underwent electrodiagnostic studies between 1997and 2011, total 11 patients (all males; median age, 47 years; range, 28-71 years) with comorbid neuropathy were enrolled. Stageof HIV infection was categorized according to the Centers for Disease Control and Prevention (CDC) criteria. Classificationof peripheral neuropathy was based on clinical and electrophysiological features. Results: Distal symmetric polyneuropathywas observed in 8 patients (72.7%), inflammatory demyelinating polyneuropathy in 2 patients (18.1%), and polyradiculopathyin 1 patient (9.1%). Median CD4+ T cell count was 123/mm3 (range, 8-540/mm3) and 7 patients (60%) had the mostadvanced HIV disease stage (CDC-C3). There was no neuropathy caused by CMV infection. Conclusions: Distal symmetricpolyneuropathy was the most common type of neuropathy in HIV infection, but various forms of neuropathy such asinflammatory demyelinating polyneuropathy and polyradiculopathy were also present. HIV associated neuropathy is morefrequently associated with advancing immunosuppression, although it can occur in all stages of HIV infection.