Peripheral neuroepithelioma is a rare tumor, comprising less than 1% of all soft tissue malignancies arising from the peripheral nonautonomic nervous system. Most peripheral neuroepitheliomas reported were located in the extremities, thoraco-pulmonary region, and pelvic areas, and as many as 30% of cases were associated with peripheral nerve. We report one case of peripheral neuroepithelioma arising in the kidney, mimicking renal cell carcinoma on the CT scan.
Adult ; Case Report ; Female ; Human ; Kidney Neoplasms/*pathology ; Neuroectodermal Tumors, Primitive, Peripheral/*pathology ; Peripheral Nervous System Diseases/*pathology

We reviewed dinical, histological and ultrastructural findings of 124 cases of sural nerve biopsy specimens to delineate the trends of peripheral nerve diseases in our institute. Eighty-one were men and 43 were women. We categorized them into five groups: specific diagnosis (66 cases, 53.2%), axonal degeneration type (47 cases, 37.9%), demyelinating type (4 cases, 3.2%), mixed axonal degeneration-demyelinating type (6 cases, 4.8%) and normal (1 case, 0.9%). Cases with specific diagnosis included 21 inflammatory demyelinating polyneuropathy (15 chronic inflammatory demyelinating polyradiculoneuropathy, 6 Guillain-Barre disease), 13 hereditary motor and sensory neuropathy (7 Charcot-Marie-Tooth type I, 6 Charcot-Marie-Tooth type II), 10 vasculitis, 6 toxic neuropathy, 4 leprosy, 3 diabetic neuropathy, 2 alcoholic neuropathy, 1 Fabry's disease and other specific diseases (5 cases). In our cases, the proportion of specific diagnoses was higher, while the proportion of demyelinating peripheral neuropathies and normal were lower than those of Western series. The results of this study indicate that 1) a dose clinicopathologic correlation is important to make a precise diagnosis of peripheral nerve biopsy, 2) Biopsy under strict indication may reduce unnecessary histologic examination, 3) There is no difference in disease pattern of peripheral neuropathy between Western people and Koreans.
Adult ; Biopsy ; Charcot-Marie-Tooth Disease/pathology ; Demyelinating Diseases/pathology ; Fabry Disease/pathology ; Female ; Hereditary Motor and Sensory Neuropathies/pathology ; Human ; Korea ; Leprosy/pathology ; Male ; Microscopy, Electron ; Nerve Fibers, Myelinated/pathology ; Peripheral Nerves/ultrastructure ; Peripheral Nerves/pathology ; Peripheral Nervous System Diseases/pathology* ; Peripheral Nervous System Diseases/microbiology ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/pathology ; Sural Nerve/ultrastructure ; Sural Nerve/pathology*

In recent years, the sural nerve biopsy has become a commonly performed procedure in the diagnostic work-up of patients with peripheral neuropathy. This paper reviews the diagnostic usefulness and limitations of this procedure. Based on 385 sural nerve biopsies, we found clinically helpful or relevant information in 45% of cases. In 24% of cases, specific diagnoses were obtained, among which vasculitic neuropathy was most common.
Biopsy/methods/standards ; Evaluation Studies ; Histological Techniques ; Human ; Peripheral Nervous System Diseases/classification/*diagnosis ; Spinal Nerves/*pathology ; Sural Nerve/*pathology

Peripheral neuropathy or amyotropic lateral sclerosis can be associated with renal cell carcinoma. We report a 63-year-old male patient with renal cell carcinoma who developed an atypical, progressive neuropathy after nephrectomy.
Carcinoma, Renal Cell/*complications/pathology ; Humans ; Kidney Neoplasms/*complications/pathology ; Male ; Middle Aged ; Nephrectomy ; Peripheral Nervous System Diseases/*etiology

Compared with biochemical information available about the diseases in the central nervous system, that for peripheral neuropathy is quite limited primarily due to the difficulties in obtaining samples. Characterization of the core pathology is a prerequisite to the development of personalized medicine for genetically heterogeneous diseases, such as hereditary motor and sensory neuropathy (HMSN). Here, we first documented the transcriptome profile of distal sural nerve obtained from HMSN patients. RNA-seq analysis revealed that over 12,000 genes are expressed in distal sural nerve. Among them 4,000 transcripts are novel and 10 fusion genes per sample were observed. Comparing dataset from whole exome sequencing revealed that over 1,500 transcriptional base modifications occur during transcription. These data implicate that dynamic alterations are generated when genetic information are transitioned in distal sural nerve. Although, we could not find significant alterations associated with HMSN, these data might provide crucial information about the pathophysiology of HMSN. Therefore, next step in the development of therapeutic strategy for HMSN might be unveiling biochemical and biophysical abnormalities derived from those potent variation.
Central Nervous System ; Dataset ; Exome ; Gene Expression Profiling* ; Hereditary Sensory and Motor Neuropathy ; Humans ; Pathology ; Peripheral Nervous System Diseases ; Sural Nerve* ; Transcriptome ; Precision Medicine

OBJECTIVES: Rodenticide Vacor causes a severe peripheral neuropathy in humans. Electrophysiologic studies on a peripheral motor nerve-skeletal system of Vacor-treated rat showed decreased amplitude of muscle action potential without conduction velocity abnormalities. The ultrastructural studies of the neuromuscular junction were performed to clarify the anatomic site of the Vacor-induced peripheral neuropathy in male Wistar rats. METHODS: After oral administration of a single dose of Vacor, 80 mg/kg of body weight, to the experimental animals, neuromuscular junctions within the interosseous muscles of the hind foot were observed in time. RESULTS: No axon terminal change was noted until 24 hours after the administration of Vacor. Remarkable loss of presynaptic vesicles and swollen endoplasmic reticulum in the axon terminal were developed at 3 days after Vacor treatment. Progressive degenerative changes consisting of marked loss of presynaptic vesicles, focal disruption of membrane in the axon terminal with disappearance of the number of the damaged axon terminal appeared, and flattening of postsynaptic folds was also seen. CONCLUSIONS: These results suggest that degenerative changes in axon terminal at neuromuscular junction may contribute to the peripheral neuropathy developed in the early phase of Vacor poisoning.
Animal ; Diabetic Neuropathies/physiopathology ; Diabetic Neuropathies/pathology* ; Diabetic Neuropathies/chemically induced* ; Human ; Male ; Microscopy, Electron ; Neuromuscular Junction/ultrastructure ; Neuromuscular Junction/physiopathology ; Neuromuscular Junction/drug effects ; Peripheral Nervous System Diseases/physiopathology ; Peripheral Nervous System Diseases/pathology ; Peripheral Nervous System Diseases/chemically induced ; Phenylurea Compounds/toxicity* ; Rats ; Rats, Wistar ; Rodenticides/toxicity*

Compound nerve action potential (CNAP) of the mixed peripheral nerve is composed of A alpha beta, A delta, and C potentials. All components of CNAPs in the sciatic nerve were recorded by stimulating the tibial nerve of both control and lead-poisoned rats. Marked decrease of nerve conduction velocity and prolonged duration were found in A alpha beta and A delta fibers especially in large myelinated A alpha beta fibers. The amplitude decreased in A alpha beta potential, but the area did not change. In C potential produced by activation of unmyelinated fibers, nerve conduction velocity slightly decreased, but the amplitude and area did not significantly change. Pathologic correlates revealed prominent segmental demyelination with significant decrease of large myelinated fiber densities. Minimal axonal degeneration of unmyelinated fibers was present. We can conclude that electrophysiologic changes in the lead-poisoned rats correlate with pathologic changes in them.
Animals ; Electrochemistry ; Lead Poisoning/complications/*pathology ; Neural Conduction ; Peripheral Nervous System Diseases/chemically induced/*pathology ; Rats ; Rats, Inbred Strains ; Sciatic Nerve/pathology

OBJECTIVETo review the literature on the use of brain imaging, including functional magnetic resonance imaging (fMRI), positron emission tomography (PET), magnetic resonance spectroscopy (MRS) and voxel-based morphometry (VBM) in investigation of the activity in diverse brain regions that creates and modulates chronic neuropathic pain.

DATA SOURCESEnglish literatures from January 1, 2000 to July 31, 2007 that examined human brain activity in chronic neuropathic pain were accessed through MEDLINE/CD ROM, using PET, fMRI, VBM, MRS and receptor binding.

STUDY SELECTIONPublished articles about the application of fMRI, PET, VBM, MRS and chronic neuropathic pain were selected.

DATA EXTRACTIONData were mainly extracted from 40 representative articles as the research basis.

RESULTSThe PET studies suggested that spontaneous neuropathic pain is associated with changes in thalamic activity. Both PET and fMRI have been used to investigate the substrate of allodynia. The VBM demonstrated that brain structural changes are involved in chronic neuropathic pain, which is not seen in a matched control group. However, the results obtained had a large variety, which may be due to different pain etiology, pain distribution, lesion tomography, symptoms and stimulation procedures.

CONCLUSIONSApplication of the techniques of brain imaging plays a very important role in the study of structural and functional reorganization in patients with neuropathic pain. However, a unique "pain matrix" has not been defined. Future studies should be conducted using a prospective longitudinal research design, which would guarantee the control for many confounding factors.

Brain ; pathology ; physiopathology ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Pain ; pathology ; physiopathology ; Peripheral Nervous System Diseases ; pathology ; physiopathology ; Positron-Emission Tomography ; Receptors, Dopamine ; metabolism ; Receptors, Opioid ; metabolism

Neurogenic bladder in systemic lupus erythematosus (SLE) has been considered to occur rarely. Myelopathy, cyclophosphamide treatment, vasculitis have been implicated as the causes of the bladder pathology in patients with SLE. In this report, we describe a 46-year- old female with SLE who simultaneously combined with the neurogenic bladder. The diagnosis of neurogenic bladder, attributed to peripheral neuropathy, was made on the basis of cystometrography and clinical symptom. Steroid therapy couldn't improve the clinical manifestation of neurogenic bladder despite the amelioration of the other lupus symptom.
Cyclophosphamide ; Diagnosis ; Female ; Humans ; Lupus Erythematosus, Systemic* ; Pathology ; Peripheral Nervous System Diseases ; Spinal Cord Diseases ; Urinary Bladder ; Urinary Bladder, Neurogenic* ; Vasculitis

Peripheral neuropathies occur in lymphoma patients. Causes of neuropathy include chemotherapy, opportunistic infections, and the lymphoma itself. We report a patient with lymphoma whose chief complaint was a sensory loss in the hands and feet. Electrophysiologic studies and sural nerve biopsy showed sensory polyneuropathies. We hypothesize that this neuropathy is associated with lymphoma-related ganglionopathy, and among the possible causes, we suspect that a systemic cause such as a paraneoplastic syndrome is the most likely pathogenic etiology. However, further follow-up will be necessary to see whether sensory symptoms change with lymphoma treatment.
Adult ; Biopsy ; Electrophysiology ; Hodgkin Disease/*complications/*diagnosis ; Human ; Lymphatic Metastasis ; Lymphoma/*metabolism ; Male ; Peripheral Nervous System Diseases/*complications/*pathology ; Sensation Disorders/complications/pathology