Nonsystemic vasculitic neuropathy (NSVN) is a localized vasculitis confined to the peripheral nerves. Absence of systemic manifestations frequently leads to mis- or under diagnosis without the aid of pathologic study. NSVN may present typically with multiple mononeuropathies or less commonly with a sensorimotor polyneuropathy. We report two cases of NSVN presenting with acute severe painful neuropathy. Sural nerve pathology showed unequivocal vasculitis. High dose corticosteroid therapy was effective in controlling the pain. NSVN should be considered as a treatable cause of acute painful neuropathy.
Acute Pain* ; Diagnosis ; Mononeuropathies ; Pathology ; Peripheral Nerves ; Polyneuropathies ; Sural Nerve ; Vasculitis

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

Due to unknown underlying biochemical disorders, the delineation of Dejerine-sottas disease has been subject to recent controversy. This is a case of a 9 year-old Korean female with the clinical manifestations of sporadic occurence, chronic severe and symmetrical motor sensory polyneuropathy, thickened palpable peripheral nerves, facial diplegia, areflexia and abnormal pupillary reactivity to light. The electrophysiological studies are indicative of chronic demyelination neuropathy showing markedly slowed motor NCV, low and dispersed CMAPs and extreme dispersion of a SNAP. The pathology of the sural nerve reveals prominant hypomyelination and onion bulbs characterized by whorling concentric proliferations of the cytoplasmic processes of Schwann cells. The nosological problems of hypertrophic neuropathy in childhood are discussed.
Axons/pathology ; Case Report ; Child ; Demyelinating Diseases/pathology ; Facial Paralysis/*pathology ; Female ; Hereditary Motor and Sensory Neuropathies/*pathology ; Human ; Sural Nerve/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*

OBJECTIVETo elicit the usefulness of muscle, sural nerve and skin biopsies in neuromuscular disease, including its diagnostic value and indications for biopsy.

METHODThe authors retrospectively evaluated the clinical data of every patient who underwent muscle, sural nerve and/or skin biopsy in the department between January 1999 and December 2004.

RESULTOne hundred and two patients with the suspected neuromuscular diseases were included. Muscle disease or hereditary metabolic/degenerative diseases with muscular injury were suspected in 82 patients, specific or typical histological findings confirmed diagnosis in 33 of these patients. The diagnosis included muscular dystrophies in 13 patients; inflammatory myopathies in 4 patients; congenital centronuclear myopathies in 2 patients; vacuole myopathy in 1 patient; mitochondrial myopathies in 8 patients; lipid storage myopathy in 1 patient; glycogenosis in 1 patient; spinal muscular atrophy in 3 patients. Nonspecific changes were seen in 25 patients, and in 24 patients nothing abnormal was revealed. Neuropathy or hereditary metabolic/degenerative diseases with peripheral nerve injury were suspected in 23 patients, specific or typical histological findings confirmed diagnosis in 10 of these patients, including hereditary motor and sensory neuropathy in 9 patients and metachromatic leukodystrophy with peripheral nerve abnormality in 1 patient. Nonspecific changes were seen in 11 patients and 2 patients had normal sural nerve. Skin biopsies were performed in 8 patients, specific or typical histological findings confirmed diagnosis in 4 of these patients. The diagnosis included neuronal ceroid lipofuscinosis in 2 patients, infantile axonal dystrophy in 1 patient, vacuole lysosomal disease in 1 patient, and 4 patients had normal skin biopsy.

CONCLUSIONMuscle, sural nerve and skin biopsies play an important role in diagnosis of childhood neuromuscular disease, and should be done only in carefully selected cases after thorough clinical work-up. Muscle biopsy is essential for diagnosis of congenital and metabolic myopathies. Typical pathologic alterations of sural nerve have diagnostic value for hereditary neuropathies. Skin biopsy should be performed to verify neuronal ceroid lipofuscinosis.

Adolescent ; Biopsy ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Muscles ; pathology ; Neuromuscular Diseases ; diagnosis ; pathology ; Retrospective Studies ; Skin ; pathology ; Sural Nerve ; pathology

BACKGROUND: Organophosphate induced delayed polyneuropathy(OIDP) by ingestion is not common, and the mechanism is not well known. In this study, we present clinical characteristics, electrophysiological findings and pathology of sural nerve in our four cases with OIDP. METHODS: Retrospectively, we reviewed 38 patients diagnosed as organophosphate intoxication at Asan Medical Center from January, 1990 to July, 1998. Among these patients we present four patients with OIDP, who received electrophysiological and pathological studies and discuss similar cases from the literature. RESULTS: OIDP occurred usually 2-4 weeks after exposure. They complained quadriplegia, paresthesia and pain mainly in distal extremities. Two patients had facial diplegia. No definite pyramidal sign was found in all patients. Elelctrophysiological study showed sensorimotor(predominantly motor) axonal polyneuropathy with marked denervation potentials in all tested muscles. Follow-up electrophysiological study after two years showed slightly increased amplitude of sensory nerve or compound motor action potentials with persistent denervation potentials in the distal muscles. Sural nerve biopsy confirmed severe axonal neuropathy with marked decrease of large and small myelinated fibers with myelin ovoids. CONCLUSIONS: OIDP was a cause of severe generalized weakness and paresthesia, decreased sensation in distal extremities after high dose organophosphate ingestion and usually occurred two to four weeks later. The prognosis was poor in patients who had severe weakness of four extremities with facial diplegia at the initial examination.
Action Potentials ; Axons ; Biopsy ; Chungcheongnam-do ; Denervation ; Eating ; Extremities ; Follow-Up Studies ; Humans ; Muscles ; Myelin Sheath ; Organophosphate Poisoning* ; Paresthesia ; Pathology ; Polyneuropathies* ; Prognosis ; Quadriplegia ; Retrospective Studies ; Sensation ; Sural Nerve

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

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.
Atrophy ; Case Report ; Fingers ; Human ; Hypohidrosis/pathology* ; Hypohidrosis/complications ; Infant ; Korea ; Male ; Mental Retardation/pathology ; Mental Retardation/complications ; Microscopy, Electron ; Nerve Fibers/ultrastructure ; Nerve Fibers/pathology ; Pain Insensitivity, Congenital/pathology* ; Pain Insensitivity, Congenital/complications ; Self Mutilation/pathology ; Self Mutilation/etiology ; Sural Nerve/pathology ; Tongue

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12. The present study aimed at evaluating the deletion of the 17p11.2-p12 region in Korean subjects with families exhibiting HNPP phenotype, and to determine the clinical, electrophysiological and morphological aspects specifically associated with this deletion in HNPP patients. By genotyping six microsatellite markers (D17S921, D17S955, D17S1358, D17S839, D17S122 and D17S261), HNPP with the deletion was observed in 79% (19 of 24) of HNPP families. Nerve conduction studies were performed in 35 HNPP patients from these 19 families. The observed HNPP deletion frequency in Koreans is consistent with findings in other populations. Disease onset occurred at a significantly earlier age in patients with recurrent pressure palsies than in those with a single attack (P<0.01). Nerve conduction studies demonstrated diffuse mild to moderate slowing of nerve conduction velocities that were worse over the common entrapment sites, regardless of the clinical manifestations. A long duration of compound muscle action potentials without a conduction block or a temporal dispersion is a characteristic of this disease. A sural nerve biopsy with teasing was performed in four patients, and tomacula of the myelin sheath was found in 56.4%. Our findings appear to support the existence of a phenotype/genotype correlation in HNPP patients of Korean ancestry with the deletion, and suggest that HNPP patients with earlier symptom onset face an increased chance of having recurrent attacks.
Adolescent ; Adult ; Age of Onset ; Aged ; Charcot-Marie-Tooth Disease/genetics ; Child ; Child, Preschool ; *Chromosome Deletion ; *Chromosomes, Human, Pair 17 ; DNA Mutational Analysis ; Electrophysiology ; Female ; Genotype ; Hereditary Motor and Sensory Neuropathies/*genetics/pathology/physiopathology ; Humans ; Korea ; Male ; Microsatellite Repeats ; Middle Aged ; Paralysis/*genetics/pathology/physiopathology ; Pedigree ; Phenotype ; Research Support, Non-U.S. Gov't ; Sural Nerve/pathology/physiopathology

We report a 46-year-old woman with primary biliary cirrhosis (PBC) presenting with Sjogren's syndrome and systemic mononuclear inflammatory vasculopathy. Biopsy specimens of sural nerve showed findings consistent with vasculitic neuropathy. Perivascular inflammatory mononuclear cell infiltration was observed on muscle biopsy specimen. The findings of abdominal computed tomography and brain magnetic resonance imaging were suggestive of vasculitis. Clinical manifestations and radiologic findings were improved after high dose prednisolone therapy.
Biopsy, Needle ; Case Report ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Human ; Liver Cirrhosis, Biliary/diagnosis+ACo- ; Liver Cirrhosis, Biliary/complications+ACo- ; Middle Age ; Prednisone/administration +ACY- dosage ; Sjogren's Syndrome/pathology ; Sjogren's Syndrome/diagnosis+ACo- ; Sjogren's Syndrome/complications ; Sural Nerve/pathology ; Treatment Outcome ; Vasculitis/pathology ; Vasculitis/drug therapy ; Vasculitis/diagnosis+ACo- ; Vasculitis/complications