Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy

A 64-year-old woman had bilateral facial weakness, mild peripheral neuropathy, incoordination, and impaired balance. A corneal transplant had been performed for corneal lattice dystrophy. Sural nerve biopsy showed mild axonal neuropathy with deposits of amyloid in the perineurium. Histochemical studies showed amyloid protein AA in the nerve, but not in cornea or muscle.     

Acute painful neuropathy in thallium poisoning

Dysesthesia, allodynia, distal muscle weakness, and sensory impairment were noted in two patients with acute thallium intoxication. Two months later, nerve conduction studies showed an axonal degeneration. Sural nerve biopsy disclosed a decreased fiber density in the large myelinated fibers. Quantitative sensory testing also revealed an impairment of pinprick, temperature, and touch sensations. Cutaneous nerve biopsy confirmed a loss of epidermal nerves indicating an involvement of the small sensory nerves.     

Postvaccinal inflammatory neuropathy: peripheral nerve biopsy in 3 cases

Autoimmune inflammatory polyneuropathy (PN) can be triggered by vaccination. We report 3 such cases. A 36-year-old female nurse presented 15 days after a hepatitis B vaccination (HBV) with acute sensory disturbances in the lower limbs. She had severe ataxia but no weakness. Cerebrospinal fluid (CSF) protein level was 84 mg/100 mL, with 3 lymphocytes. A 66-year-old man presented 21 days after HBV with severe motor and sensory PN involving all 4 limbs. A 66-year-old man presented 15 days after a yellow fever vaccination with progressive motor and sensory PN involving all 4 limbs and bilateral facial paralysis. CSF protein level was 300 mg/100 mL, with 5 lymphocytes. Six weeks later, a tracheostomy was performed. In these 3 patients, the nerve deficits lasted for months. In each case, peripheral nerve biopsy showed KP1-positive histiocytes but no T-lymphocytes in the endoneurium. On ultrastructural examination, there was axonal degeneration in the first 2 cases; in case 2, a few myelinated fibers exhibited an intra-axonal macrophage but the myelin sheath was preserved. There was only 1 example of macrophage-associated demyelination in case 2, but these were numerous in case 3. It is likely that in the first 2 cases, an autoimmune reaction against some axonal or neuronal components was triggered by HBV. It induced an acute sensory ataxic PN in case 1 and an acute motor and sensory axonal neuropathy (AMSAN) in case 2. The third patient had a chronic inflammatory demyelinating PN, likely triggered by yellow fever vaccination.     

A case of CIDP with horizontal gaze-evoked nystagmus and ataxia]

A 46-year-old man developed mild to moderate weakness in the distal muscles of lower limbs and then had gradually progressive weakness and sensory loss in four limbs. He subsequently developed difficulty in walking over a few months. Examination showed severe distal muscle weakness and atrophy, but mild proximal weakness in four limbs. Superficial sensation was decreased in both distal limbs and his vibratory sense was mildly decreased in bilateral feet. All tendon reflexes were absent. Furthermore, he showed four-limb and truncal ataxia with bilateral horizontal gaze-evoked nystagmus in both directions. Nerve conduction study revealed sensorimotor neuropathy, and sural nerve biopsy showed mixed axonal damage and demyelination. Cerebrospinal fluid protein levels were raised 212 mg/dl. Lumbar spine MRI showed marked cauda equina enhancement with gadolinium. Anti-ganglioside antibodies were negative but serum antineuronal antibodies without known antigen specificity were found. Neurootological findings indicated bilateral horizontal gaze-evoked nystagmus was caused by spinocerebellar damage. We diagnosed this case was CIDP with cerebellar ataxia. After administration of high dose steroid therapy, intravenous methylprednisolone 1000 mg/day, his symptoms including ataxia and polyneuropathy were apparently improved.     

Alcoholic neuropathy: Clinical,electrophysiological, and biopsy findings

Nerve conduction and biopsy findings from the sural nerve in 37 patients with alcohokic neuropathy were compared with findings in 6 patients who had neuropathy associated with postgastrectomy malnutrition. Half the patients with alcoholic neuropathy had both muscle weakness and sensory loss, half had only sensory impairment, but all had electromyographic signs of denervation. Only half the patients, with or without muscle weakness, had signs of malnutrition. In alcoholics, sural nerve conduction velocity was slowed to at most 60% of normal, correlating with loss of large fibers. These findings, together with a marked reduction in amplitude of the sensory potentials, are consistent with axonal loss. Myelinated fiber counts showed loss of small and large fibers in most nerves, retaining a bimodal distribution. Signs of regeneration were rare. Segmental demyelination was found in only 0.3% of teased fibers. Electron microscopy confirmed axonal degeneration of myelinated and unmyelinated fibers. Neuropathy after gastrectomy malnutrition was clinically similar to alcoholic neuropathy. Conduction velocities were slower than expected from the diameter of the largest myelinated fibers, however, and teased fibers showed segmental demyelination. The findings are against alcoholic neuropathy being due to malnutrition and suggest a toxic action on peripheral nerve.     

Inflammatory pseudotumor of nerve: clinicopathological characteristics and a potential therapy

We sought to determine the clinical, electrophysiological, neuroimaging, and pathological features of inflammatory pseudotumor of nerve. Five patients were identified. All cases presented with a gradually progressive mononeuropathy with symptoms of weakness, sensory loss, and prominent neuropathic pain. The median duration of symptoms was 7 months (range 3-36 months). Electrophysiological results were in keeping with chronic axonal mononeuropathies with variable findings of active denervation and reinnervation. MRI demonstrated irregular, large masses involving and surrounding nerve with heterogenous signal characteristics on T1- and T2-weighted and post-contrast sequences. Histopathological features of the nerve slightly varied but shared commonalities including chronic inflammatory infiltrates, increased collagen, and increased numbers of microvessels. Axonal degeneration and decreased density of myelinated fibers were also noted. Three patients were treated with weekly courses of intravenous steroids for 3 months. All reported improvement in pain and weakness. Inflammatory pseudotumor of nerve is not a neoplasm and has reactive features of inflammation, increased vascularity, and marked fibrosis. It presents as a progressive axonal mononeuropathy with weakness, sensory loss, and pain that may be episodic. The primary pathophysiology is unknown but the inflammation and response to treatment suggests that there may be an immune component.     

Acute motor and sensory axonal neuropathy (AMSAN) in a 15-year-old boy presenting with severe pain and distal muscle weakness

Acute motor and sensory axonal neuropathy (AMSAN) is a recently described subtype of Guillain-Barré syndrome characterized by acute onset of distal weakness, loss of deep tendon reflexes and sensory symptoms. Electrophysiological studies show mildly reduced nerve conduction velocities combined with a marked reduction of muscle action and sensory nerve action potentials. Here, we report a 15-year-old boy who suffered from severe burning and knife-like pain that increased over a period of three months and resulted in a disrupted sleep pattern and suicidal intentions as well as marked loss of weight. In addition, he developed muscle weakness in his hands and feet. Neurophysiological and histopathological studies revealed AMSAN. Marked improvement of his condition was achieved by treatment with intravenous immunoglobulins, high-dose methylprednisolone, and a combination of gabapentin, antidepressants, and an oral morphine.     

Sensori-motor neuropathy associated with congenital bilateral club feet: histological and ultrastructural study of the sural nerve

A 53-year-old female with sensori-motor neuropathy associated with bilateral club feet was reported. She was admitted because of numbness in the bilateral feet and gait disturbance. Her parents were not related. There was no family history of any neurological diseases. She had bilateral club feet which were present at birth to developed in early childhood. She could walk, but could not run. Since 5 years prior to the admission she noted gradually increasing disturbance of gait. Neurological examination revealed muscular weakness and wasting in the distal parts of the lower extremities and decreased deep tendon reflexes. There were hypesthesia, hypalgesia and dysesthesia in the lateral portions of the bilateral feet. Deep sensation was normal. There was no weakness or wasting in the upper extremities. Motor nerve conduction velocities were normal and sensory nerve conduction velocities were reduced in the median nerve. No action potentials could not be elicited in the bilateral tibial and peroneal nerves. A sural nerve biopsy showed a markedly hypertrophic perineurium, 28-150 micron thick, a large Renaut body measured 140 micron by 200 micron in diameters and a markedly reduced number of the myelinated fibers. Fiber size histogram showed many unmyelinated fibers larger than 1 micron, despite loss of fibers of the usual size. Therefore, a part of the unmyelinated fibers might be demyelinated. There were no axonal degeneration and onion-bulb formation. Segmental demyelination was found in approximately 30% of the myelinated fibers.(ABSTRACT TRUNCATED AT 250 WORDS)     

Magnetic resonance imaging findings in bilateral Bell's palsy.

Bell's palsy (idiopathic facial paralysis) is the most common cause of unilateral peripheral facial neuropathy. Bilateral involvement occurs in less than 10% of cases. The authors describe a 20-year-old man with bilateral idiopathic facial weakness. Brain magnetic resonance imaging (MRI) showed abnormal bilateral enhancement of the proximal intracanalicular segments of VII/VIII nerve complexes. The enhancement was most prominent in the leptomeningeal regions. There was no facial nerve swelling. Three months later he had improving residual bifacial weakness. To the authors' knowledge, this is the first report of abnormal MRI findings in bilateral Bell's palsy.     

Length-dependent weakness and electrophysiological signs of secondary axonal loss in chronic inflammatory demyelinating polyradiculoneuropathy

In chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) the pathophysiology underlying permanent muscle weakness and sensory loss was studied in 22 stabilized long-term CIDP patients clinically characterized using isokinetic dynamometry, quantitative sensory testing, and neuropathy scores. Conduction velocity (CV), distal latency (DLAT), minimal F-wave latency (FLAT), compound muscle action potential (CMAP), and amplitude decay between distal and proximal stimulation sites were determined in the median, ulnar, peroneal, and tibial motor nerves and sensory CV and nerve action potentials in the median and sural nerves. Amplitude of CMAP and the DLAT were related to quantitative muscle strength, whereas CV, FLAT, amplitude decay, and dispersion were not consistently related to strength. Furthermore, CMAP and muscle strength were significantly more reduced distally than proximally. In conclusion, the electrophysiological signs of axonal loss and the associated length-dependent muscle weakness suggest secondary axonal loss in addition to primary demyelination in CIDP.     

A case of mitochondrial myopathy with mononeuritis multiplex

A case of mitochondrial myopathy with mononeuritis multiplex was described. A 55-year-old man was hospitalized because of blepharoptosis and muscle weakness. His mother also showed blepharoptosis in her elderly stage of life. He had been healthy until 46 years of age, when he first noticed difficulty of speech, followed by bilateral blepharoptosis, weakness of upper limbs, and sensory disturbance in the left occipital, and left upper and lower extremities. These symptoms progressed slowly. On admission, bilateral blepharoptosis was recognized. Slightly to moderate muscle wasting and weakness were observed in the face, neck, trunk, and extremities. Areflexia was observed in the upper extremities. Paresthesia was observed in the left occipital and left hip, and superficial sensation was impaired in the left upper and lower extremities. Electromyographic examination of extremities showed neurogenic changes in the distal muscles and myogenic changes in the proximal muscles. Motor conduction velocities were normal, but sensory conduction velocities decreased in amplitude on the left upper extremity and were not evoked on the left lower extremity. Muscle biopsy specimen revealed numerous "ragged-red" fibers. Cytochrome c oxidase stain showed a decrease in intensity of staining. A sural nerve biopsy showed slight axonal degeneration and slight loss of nerve fibers. Biochemical analysis on biopsy muscle showed partial deficiency of cytochrome c oxidase activity.     

A case of mononeuropathy multiplex associated with anti-GM1 and -SGLPG antibodies in a patient with ongoing Hashimoto disease]

We reported a case of mononeuropathy multiplex associated with anti-GM1 and -SGLPG antibodies in a patient with ongoing Hashimoto disease. A 56-year-old woman was admitted with asymmetrical patchy sensory and motor disturbance in the extremities. Muscle atrophy and weakness in the left palm and bilateral tibialis anterior muscles were also noted. Deep tendon reflexes were normal in all the extremities. Superficial and deep sensations were reduced in the hands and feet bilaterally, and the distribution of sensory loss was irregular. Her serum was positive for antinuclear antibody, rheumatoid factor, anti-RNP antibody, and anti-SS-A antibody. Serial electrophysiological studies suggested that the predominant process was axonal degeneration of the sensorimotor nerves. On sural nerve biopsy, there were no findings of vasculitis but severe axonal degeneration was observed. Thin-layer chromatography with immunostaining revealed anti-GM1 and -SGLPG antibodies. Treatment with corticosteroids was successful. In this case, the anti-GM1 antibody may have played a role in the pathogenesis of mononeuropathy multiplex associated with autoimmune disease.     

The electrophysiological profile of hereditary motor and sensory neuropathy-Lom

OBJECTIVE: To make electrophysiological observations on a large kindred with hereditary motor and sensory neuropathy-Lom (HMSN-L) containing 27 affected individuals. CLINICAL FINDINGS: Onset was in early childhood with gait difficulty related to progressive lower limb weakness. Upper limb weakness developed later. Bulbar involvement was present in one third of the patients, and deafness appeared during the second or third decades. ELECTROPHYSIOLOGICAL FINDINGS: Electromyographic evidence of denervation was progressive, more severe distally, and greater in the legs, being total in distal lower limb muscles in most patients. Sensory action potentials were absent and motor nerve conduction was severely slowed. This included proximal upper limb (musculocutaneous and axillary), hypoglossal, and facial nerves. The severity of slowing increased during childhood. M waves, often multiple, were recorded in all affected individuals. The blink reflex showed an unusual three component response. The latencies of all three components were prolonged. CONCLUSIONS: HMSN-L is shown to be a demyelinating neuropathy involving severe and early axonal loss. The progressive slowing of nerve conduction during childhood differs from the static reduction seen in type I HMSN.     

Ciguatera and peripheral neuropathy: a case report

Ciguatera is the most frequently observed form of tropical fish poisoning. It appears as a syndrome associating general signs, gastrointestinal, cardiac and neurological problems. Peripheral and central nervous system signs may be observed. We report a case of a 60-year-old man who developed Ciguatera poisoning with diarrhea, facial paresthesia, myalgia, cramps and weakness. Physical examination revealed a motor distal deficit of the four limbs, myokymia and ataxia. EMG testing was in favor of an axonal neuropathy. Neurologic symptoms persisted for two months. This case illustrates a new pathophysiological mechanism of neuropathy: "axonal channelopathy. Abnormalities of peripheral nerve sodium and potassium channels result in clinical and electrophysiological manifestations unrelated to axonal degeneration or demyelinization. The ciguatoxin mainly acts on sodium channels. Prolonged sodium channel activation results in repetitive axon firing. Recently ciguatoxin was recently demonstrated to have a novel action, blocking the sodium channel leading to slowed nerve conduction and decreased motor and sensory action potential amplitudes.     

CIGUATERA AND PERIPHERAL NEUROPATHY: A CASE REPORT

Ciguatera is the most frequently observed form of tropical fish poisoning. It appears as a syndrome associating general signs, gastrointestinal, cardiac and neurological problems. Peripheral and central nervous system signs may be observed. We report a case of a 60-year-old man who developed Ciguatera poisoning with diarrhea, facial paresthesia, myalgia, cramps and weakness. Physical examination revealed a motor distal deficit of the four limbs, myokymia and ataxia. EMG testing was in favor of an axonal neuropathy. Neurologic symptoms persisted for two months. This case illustrates a new pathophysiological mechanism of neuropathy: "axonal channelopathy". Abnormalities of peripheral nerve sodium and potassium channels result in clinical and electrophysiological manifestations unrelated to axonal degeneration or demyelinization. The ciguatoxin mainly acts on sodium channels. Prolonged sodium channel activation results in repetitive axon firing. Recently ciguatoxin was demonstrated to have a novel action, blocking the sodium channel leading to slowed nerve conduction and decreased motor and sensory action potential amplitudes.     

An autopsy case of origin-unidentified meningeal carcinomatosis presenting with monoradiculopathy multiplex in the lower extremities]

A 54-year-old man with a history of partially dissected epidermoid cyst in the left cerebellopontine angle suffered from a slowly progressive dysesthesia and weakness in the lower extremities and trunk. Neurological examination revealed segmental muscular weakness and sensory disturbance in those regions, giving rise to the possibility of monoradiculopathy multiplex, as well as loss of tendon reflexes, dysuria and right facial nerve palsy. Electrophysiological studies indicated irregular motor axonopathy or neuronopathy and interruption of more central sensory pathways than the lumbosacral spinal nerve roots with spared peripheral sensory nerves. Although MRI demonstrated enhanced lesions in the cauda equina and lumbosacral leptomeninges, CSF cytology or a cauda equina biopsy showed no malignancy. His symptoms gradually progressed and he died 15 months after the onset. The autopsy failed to reveal any tumors in the general systemic internal organs. Histopathology demonstrated meningeal carcinomatosis with squamous-type carcinoma cells scattered in the cerebrospinal leptomeninges, and perineurium in almost all the spinal and cranial nerve roots, causing severe axonal degeneration. The dorsal root ganglions escaped tumor cell invasion. Absence of the malignant tumors in the systemic organs and the history of the operated epidermoid cyst indicate that the tumor may be the cause of the meningeal carcinomatosis in this case. Meningeal carcinomatosis almost always shows rapid progression and extremely poor prognosis with several month survival in general, and little attention has been paid that it can exhibit symptoms and signs of segmental involvement in the lumbosacral regions. Our present case prompts us to bear in mind that patients with this condition can survive fairly long, and raises the possibility that a careful neurological examination with segmental involvement will reveal such a feature more frequently than considered so far in this condition.     

A case of facial diplegia due to EB virus infection

A case of facial diplegia due to EB virus infection is reported. A 56-year-old man developed headache, arthralgia and low grade fever. Two days later he noted dysesthesia of the bilateral extremities. Eight days later, disturbances of bilateral mouth and eye closing appeared, which brought him to our hospital on January 6, 1986. Neurological examinations disclosed bilateral peripheral facial palsy and glove and stocking type sensory impairment. Muscle weakness, pathological reflexes were not noted. Examination of CSF on admission revealed a cell count of 63/mm3 and a protein concentration of 45 mg/dl. The lumbar puncture, done 7 days later, revealed a cell count of 17/mm3, and a protein concentration of 41 mg/dl. Serum Epstein-Barr virus titers were times 40 (VCA IgG) and less than X10 (EBNA) on admission. Nine days later, serum EB virus titer increased to times 160 (VCA IgG). He was diagnosed as having polyneuropathy due to EB virus infection from the clinical manifestations and serum antibody titer for EB virus. EB virus infection produces various neurological manifestations. Facial nerve palsy is reported as one of the rare complications. However, most of these cases are associated with Guillain-Barré syndrome (GBS). As far as we know, only 10 cases of bilateral facial nerve palsy in the absence of GBS have appeared in the literature. In our case, bilateral facial nerve palsy appeared as a part of polyneuropathy in the absence of GBS. EB virus should be considered as one of etiologies of bilateral facial nerve palsy.     

Electrodiagnosis of the cranial nerves

Isolated facial weakness suggests either a contralateral hemispheric lesion or a disease of the facial nerve per se. The presence of sensory symptoms usually indicates a central facial weakness, which characteristically involves the lower part of the face. In contrast, the absence of sensory disturbances suggests a peripheral nerve lesion, some system diseases such as amyotrophic lateral sclerosis, or a stroke sparing the sensory cortex. Sporadic cases of Bell's palsy rank the first in incidence. Although its exact etiology remains unknown, accumulating evidence suggests reactivation of herpes simplex virus type I. A facial palsy that develops in patients with diabetes mellitus tends to show a more severe involvement with substantial denervation. Acoustic neuroma, strategically located at the cerebellopontine angle, may compress the facial nerve. Peripheral facial palsy may herald other symptoms of multiple sclerosis in young adults. Serial electrodiagnostic studies help delineate the course of the illness. The amplitude of the direct response elicited by stimulation of the facial nerve after the fourth to fifth day of onset serves as the best means predicting the eventual outcome of recovery. Blink reflex studies usually show an absent or delayed R1, implicating the central reflex arc, which includes the intrapontine portion of the facial nerve.     

Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement

We report dizygotic twins who first presented at the age of 6 months with severe diaphragmatic weakness and marked abnormalities of autonomic function. A female sibling had earlier died from a disorder with similar clinical features. Both twins had a severe axonal polyneuropathy with generalized hypotonic limb weakness together with diaphragmatic paralysis resulting in respiratory failure. Associated features were tachycardia, increased sweating, elevated body temperature, and hypertension, suggesting autonomic dysfunction. Nerve conduction studies indicated an axonopathy affecting both motor and sensory nerve fibres. Sural nerve biopsy in one twin performed at the age of 7 months showed a reduced population of myelinated nerve fibres, particularly those of larger diameter, with no indication of hypomyelination, demyelination or axonal atrophy. Examples of axonal forms of hereditary motor and sensory neuropathy (HMSN) with onset in infancy are very rare and autonomic involvement associated with this condition has not so far been described.     

Idiopathic distal small fiber neuropathy

We describe the clinical details of 20 elderly patients with idiopathic small fiber neuropathy. This neuropathy is ubiquitous in practice but has not been well characterized. The clinical syndrome is relatively stereotyped and appears to be a frequent cause of burning feet in the elderly. The main features were burning, painful paresthesias and dysesthesias in the feet, lancinating pains, moderate to severe distal small fiber sensory loss, absent ankle reflexes, and minimal or no distal foot weakness. All but 2 had mild loss of vibration sense but none had significant proprioceptive loss or sensory ataxia. EMG was normal in 9 while the others had a mild sensorimotor axonal neuropathy. Sural nerve biopsy was normal in 3 and showed axonal loss in 6. Progression was slow, and although pain was a troublesome symptom, no patient became disabled. Symptoms were refractory to most symptomatic therapies but several patients improved with gammaglobulin infusions.