Sj?gren syndrome and subacute demyelinating polyradiculopathy: an unusual association

INTRODUCTION: Sj?gren's syndrome is a chronic inflammatory condition of unknown aetiology and autoimmune pathology. The defining feature is the dry syndrome, expressed as xerophthalmia and xerostomia. Extra-glandular involvement at many other levels may also occur. Neurological involvement is not unusual. The peripheral nervous system is most frequently involved, and a predominantly sensitive symmetrical distal polyneuropathy may be the first sign of the condition. Other patterns of peripheral involvement are also associated with the syndrome. We present a case of subacute demyelinating polyradiculopathy associated with primary Sj?gren's syndrome. CLINICAL CASE: A 28 year old woman with dry syndrome presented with paraesthesia in her hands and feet, distal weakness, which had progressed proximally in the muscles of her arms and legs, and bilateral facial weakness. The condition progressed for eight weeks. When complementary tests were done, alterations typical of this condition (FR, ANA, anti-Ro and anti-La) were seen and also others typical of the dry syndrome (Schirmer's test). Therefore, in view of these findings and the clinical features, after other conditions had been ruled out, a diagnosis of primary Sj?gren's syndrome was made. The type of neuropathy was determined by the clinical features, electromyography and CSF findings. Treatment with corticosteroids gave good results. CONCLUSIONS: Demyelinating polyradiculopathy is a form of peripheral nervous system involvement which is rarely seen in this disorder. In the differential diagnosis Sj?gren's syndrome should be considered, an orientative history taken, autoantibodies determined and an ophthalmological examination made.     

The orthopaedic implications of peripheral limb ischaemia in infants and children

Peripheral limb ischaemia is rare in children. We have treated only 12 infants and children with this condition in the past 15 years at the Royal Hospital for Sick Children in Glasgow. There were nine neonates and three older children. Most were suffering from life-threatening illnesses or severe infection. Two were born with ischaemic arms with no apparent cause. We have analysed the factors leading to ischaemia, the outcome of the initial treatment and the later orthopaedic problems. Two required amputation of both legs, one of an arm, two of feet and one of toes. Two had skin grafts. All surgery was performed after demarcation was well established and delayed closure was used after amputation. Five children developed limb-length discrepancy or an angular deformity. To date two have required additional corrective surgery.     

Polyneuropathy in patients with periodic leg movements during sleep

INTRODUCTION: Periodic legs movements of sleep (PLMS) are rhythmic, standard and repetitive contractions of muscles of the extremities during the sleep. It is known that the patients with restless legs syndrome (RLS) have disorders during the sleep: increase in the latency of the sleep, increased number of arousal, etc.; most of them have also periodic movements of the legs during the sleep. OBJECTIVE: The relationship of the periodic movements of the legs during the sleep with polyneuropathy is not clear. Some authors have found evidence of electrophysiological and pathological of signs of axonal mild polyneuropathy in patients with restless legs syndrome. In this work, we evaluated nine patients that were diagnosed of PLMS, to determine the prevalence of neuropathy in such sample. METHOD: Polysomnography of nocturnal sleep of 7-8 hours was performed, including electromyographic recording of both anterior tibialis muscles; and electroneurographic study of peroneal, sural, ulnar and median nerves. DISCUSSION: Just in none of the nine studied cases were obtained electrophysiological signs of neuropathy; though it has been able to demonstrate the existence of mild alteration of the peripheral nervous system, fundamentally of sensory character; nevertheless, C we think that it would have to be studied the existence of polyneuropathy in all the patients with PLMS in order to discard potentially tractable organic causes.     

Propafenone-induced peripheral neuropathy

Propafenone hydrochloride, a class IC antiarrhythmic drug, is used in the treatment of ventricular and supraventricular arrhythmias. Herein we describe a patient with episodic jabbing and crushing pain in his hands and feet, aching in his forearms, and hyperesthesias of his extremities. He had been taking propafenone for 1 year because of ventricular arrhythmias. Results of a nerve conduction velocity test were abnormal. Electron microscopic findings on a sural nerve biopsy specimen represented distal small fiber neuropathy. Findings on a thermoregulatory sweat test and on autonomic tests were abnormal, compatible with a distal small fiber neuropathy. To our knowledge, peripheral neuropathy has not previously been reported to occur with use of propafenone. In this patient, propafenone seemed to be responsible for the development of peripheral neuropathy, which resolved after use of the drug had been discontinued.     

A case of progressive saccular aneurysm caused by localized dissection of descending aorta

A 37-year-old man with alcoholic polyneuropathy showed involuntary movement as intermittent flexion-extension or abduction-adduction of his toes identical to "painful legs and moving toes (PLMT)" and muscle cramps. Regarding the sequential spreading of PLMT and cramps from unilateral to contralateral leg muscles and phasic discharges observed by a needle EMG in the foot muscles during PLMT, we suppose that a spinal or supraspinal mechanism was responsible for the production of those movements. This case showed novel aspects of PLMT which was induced by sensory stimulation of the left lower leg and subsequently initiated cramps. The destruction of the lumbar sympathetic ganglion remarkably ameliorated the spontaneous PLMT and cramps, whereas sensory stimulation of the left lower leg still induced those movements. Therefore, we think that sensory inputs from peripheral nerves played a critical role in the generation of PLMT and cramps, and abnormal activities of spinal sympathetic nerves exacerbated those involuntary movements. Sensory induced PLMT may be a subgroup of this movement disorder.     

Flexor tendon transfer for metatarsophalangeal instability of the second toe

Flexor to extensor transfer was used to treat painful second metatarsophalangeal joint instability in thirteen feet in eleven patients. All patients had their pain reproduced with vertical stress motion of 50% to 100% at the metatarsophalangeal joint. Seven feet had concomitant hallux valgus correction, two feet had no hallux valgus, and four feet underwent no correction for asymptomatic hallux valgus. Results at an average of 33.4 months followup showed that all patients had substantial pain relief, with eight patients becoming pain-free, and five patients experiencing mild pain. All but one were satisfied with their result. Stiffness appeared to be the source of the mild residual pain. All toes, including six toes with preoperative medial crossover toe deformity, were corrected into valgus alignment with adjacent toes. All toes operated on for the first time were able to touch the ground with grasp postoperatively. Flexor to extensor transfer is successful in reducing the second toe and relieving pain caused by instability of the second metatarsophalangeal joint, but may require rapid postoperative mobilization to ensure passive dorsiflexion equal to that of the adjacent toes to reduce postoperative uncomfortable stiffness.     

The determinants of user satisfaction with community psychiatric nursing care

A 70-year-old diabetic woman with sensory polyneuropathy presented with osteonecrosis of the toes and a plaque-like lesion on the dorsum of the ipsilateral foot. Histological diagnosis of eccrine syringofibroadenoma (ES) was made. A review of the literature reveals several cases of solitary ES of the foot in diabetic patients with peripheral neuropathy. This variant of ES seems to be an eccrine sweat duct hyperplasia during the restoration of skin structures damaged by traumas in a situation of peripheral neuropathy. Diabetes and polyneuropathy should be searched for in patients with ES, particularly in acral locations.     

Comparison of a neurothesiometer and vibration in measuring vibration perception thresholds and relationship to nerve conduction studies

OBJECTIVE: To compare vibration perception thresholds (VPTs) obtained with two different instruments, a neurothesiometer and a vibratron, and to characterize variability of repeat measures and correlation with sural nerve conduction parameters. RESEARCH DESIGN AND METHODS: A total of 152 patients with diabetic peripheral neuropathy received electrodiagnostic evaluation and quantitative VPT testing with the Vibratron II and the Horwell Neurothesiometer. Of the patients, 42 returned for repeat nerve conduction studies and VPT testing with both types of equipment on three separate occasions. RESULTS: The variability of repeat testing for the vibratron was 34 and 31% in the right and left first toes, respectively. Variability for neurothesiometer was 8 and 6% for the right and left toes. This variability compares with that of sural nerve conduction velocity of 2% and that of sural nerve amplitude of 8% in this series of patients. CONCLUSIONS: We conclude that VPT determined with the neurothesiometer is less variable than with the vibratron and more reflective of peripheral nerve function. Our results indicate that the neurothesiometer can be used reliably in clinical research trials.     

46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty

We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (growth and severe mental retardation, cranial and facial dysmorphism, complete syndactyly of fingers 3/4, partial syndactyly of toes 2/3) and facial but no body asymmetry. At the age of 5 months central hypothyroidism and precocious puberty were diagnosed. Thin pigmented streaks were visible on the wrists and legs of the patient at the age of 16 months. This is the first patient reported so far with 46,XX/69,XXX mixoploidy suffering from hypothyroidism and precocious puberty.     

Entrapment neuropathies

Relative frequency of entrapment neuropathies was studied from amongst the patients referred to an electrodiagnostic medicine laboratory for electrophysiological studies. During the study period electrophysiological procedures were done on 650 patients with various peripheral nerve disorders. The entrapment neuropathies constituted 8.5%. Carpal tunnel syndrome (CTS) was the commonest entrapment neuropathy (83.6%). Diagnosis of CTS was established in 84 Patients referred with the diagnosis of CTS. Electrophysiological tests confirmed the diagnosis of thoracic outlet syndrome in 4 (15.4%) of the 26 patients referred with this diagnosis and in 5 (19.3%) of them the diagnosis turned out to be CTS. Diagnosis of cubital tunnel syndrome was not suspected clinically in all the 3 patients, they were referred with the diagnosis of ulnar neuropathy. In both the patients with tarsal tunnel syndrome the initial diagnosis was peripheral neuropathy.     

Foot dystonia and lumbar canal stenosis

We describe a patient who developed involuntary, painless, dystonic contraction of the toes of the right foot on standing or walking. The development of this abnormal movement had been preceded by sensory disturbance on the soles of both feet, triggered by dorsiflexion of the feet. Examination showed that weight bearing on the right foot and walking brought on clawing of the toes of the right foot, which was relieved within seconds of taking pressure off the right foot. There was sensory and reflex evidence of bilateral S1 root disturbance confirmed by electrophysiology. Magnetic resonance imaging of the lumbar spine showed marked stenosis of the lumbar canal with compression of the L5 and S1 nerve roots bilaterally. The patient underwent a lumbar laminectomy with nerve root exit foramina decompression, which abolished the foot dystonia and has considerably improved the sensory disturbance. This case demonstrates that lumbar canal stenosis and/or nerve root compression, may be responsible for foot dystonia. Amelioration of the abnormal movement by surgical decompression argues strongly in favour of this hypothesis.     

GABA and mood disorders: a brief review and hypothesis

Considerable evidence implicates the neurotransmitter gamma-aminobutyric acid (GABA) in the biochemical pathophysiology of mood disorders. Animal models of depression show regional brain GABA deficits and GABA agonists have antidepressant activity in these models. Somatic treatments for depression and mania upregulate the GABAB receptor, similar to the effect of GABA agonists. Clinical data indicate that decreased GABA function accompanies depressed or manic mood states. GABA agonists are effective antidepressant and antimanic agents. Low GABA levels are found in brain, cerebrospinal fluid and plasma of patients with depression and in plasma of patients with mania. Plasma GABA levels, which reflect brain GABA, are not normalized with treatment and clinical remission in depression, suggesting low GABA is not a marker for mood state. Some somatic treatments, including valproic acid and electroconvulsive shock, reduced plasma GABA and response to these correlates with higher levels of baseline plasma GABA. From these data, a GABA hypothesis for mood disorders is formulated. Low GABA function is proposed to be an inherited biological marker of vulnerability for development of mood disorders. Environmental factors, including stress and excessive alcohol use, may increase GABA, causing symptoms of depression or mania. Treatment, or the passage of time, then returns GABA to its presymptomatic baseline as the symptoms remit. This hypothesis, applicable to a subset of mood disordered persons, is testable.     

Clinical and electrophysiological findings and follow-up in tarsal tunnel syndrome

The authors report clinical and electrophysiological findings in 59 patients with tarsal tunnel syndrome (TTS) and follow-up in 23 of them. The entrapment was prevalent in females; was bilateral in 6 patients and involved medial plantar in 7 and lateral plantar nerves in two cases. Eleven presented with other nerve entrapment syndromes or focal mononeuropathies, due to hereditary neuropathy with liability to pressure palsy or systemic diseases. The other 48 subjects had TTS without any other related entrapment syndromes: 23 were idiopathic cases, 13 had a history of local trauma, 3 had systemic diseases and the others had external or intrinsic compressions. The most frequent symptoms were paraesthesia or dysaesthesia (86% of feet) and pain (55%). Hypoaesthesia of the sole and weakness of toe flexion were evident in 74% and 22% of feet, respectively. Absence of sensory action potential or slowing of sensory conduction velocity (SCV) of the plantar nerves were present in 77% of feet; significant differences of SCV between affected and unaffected plantar nerves and/or between distal sural and plantar nerves were evident in 14%. Abnormalities of plantar SCV were therefore absent in only 9% of feet. Distal motor latency was delayed in 55% and electromyography showed neurogenic changes in 45% of sole muscles. Five cases (6 feet) underwent surgery with excellent or good results in 5, 4 of them also showing improvement in distal conduction of the plantar nerves. Nine were treated with local steroid injections, with good results shown in 6 patients. Nine other patients who did not receive any therapy showed a disappearance of symptoms or good outcome in 6 cases. The subjects with poor therapeutic results had S1 radiculopathy or systemic diseases. The authors underline that patients with connective tissue diseases should not be treated by surgical decompression because they may have subclinical neuropathy. Some subjects with idiopathic or trauma-induced TTS recover spontaneously. Surgical release should be limited to cases with space-occupying lesions and when conservative treatments fail.     

Elevated quantitative vibrotactile threshold among workers previously poisoned with methamidophos and other organophosphate pesticides

To evaluate chronic effects of acute organophosphate pesticide poisoning, quantitatively determined vibrotactile thresholds were measured as an index of peripheral neuropathy among agricultural workers in Nicaragua. Thirty-six male workers were evaluated between 10 and 34 months after hospitalization for acute organophosphate poisoning and compared to an age- and sex-matched community reference group. Vibrotactile thresholds were measured quantitatively in right and left index fingers and right and left great toes. Study subjects were stratified into three groups: 1) never poisoned; 2) poisoned with organophosphates other than methamidophos, agents which have not been reported to cause peripheral neuropathy; and 3) poisoned with methamidophos, a peripheral neurotoxin. For all digits, there was a statistically significant trend of increasing age- and height-adjusted thresholds across these three exposure categories. Over one fourth of patients previously poisoned with methamidophos we studied had abnormal vibrotactile thresholds. These results suggest that previously reported cases of organophosphate-induced delayed polyneuropathy may represent only the worst disease in a spectrum of impairment, a sequela of exposure that may be much more common than previously thought.     

Influence of phenoxyherbicides and their metabolites on the form of oxy- and deoxyhemoglobin of vertebrates

We describe the clinical features, natural history, and neuropathology of 32 patients presenting with "burning feet," for whom no specific cause was identified. All had neuropathic pain in the feet and morphological abnormalities of cutaneous innervation in skin obtained using punch biopsy. Most (29) had an abnormal sensory examination. All had normal strength, proprioception, tendon reflexes, and nerve conductions. Two clinical patterns were apparent, based on natural history and spatial distribution of cutaneous denervation. Most (28) patients presented with neuropathic pain initially restricted to the feet and toes but extending more proximally to involve the legs and hands with time. Intraepidermal nerve fiber (IENF) density was most severely reduced distally, with more normal IENF densities in skin from proximal sites. In contrast, a minority (4) presented with the abrupt onset of generalized cutaneous burning pain and hyperesthesia. In these patients, IENF densities were reduced in skin from both proximal and distal sites. Absolute IENF densities in calf skin were reduced below the lower limit of normal (5th percentile) in 26 (81%). Of the 6 who underwent sural nerve biopsy, 4 had selective loss of small myelinated and/or unmyelinated axons and 2 had normal histology and fiber densities despite reduced IENF densities in skin biopsy specimens. Punch skin biopsy from proximal and distal sites is a useful means of assessing these distinctive patients and may provide further insight into pathophysiology.     

Disappearance of soft tissue and the disarticulation of human remains from aqueous environments

Human remains recovered from aquatic environments were scored for regional presence of soft tissue, exposure of bone, and loss of body parts to determine the general pattern of soft tissue loss and loss of body parts. Regions scored were: the cranium, mandible, neck, hands, forearms, upper arms, feet, legs, pelvic girdle, and trunk. Initial disappearance of soft tissue, resulting in exposure of underlying bones, occurred in areas thinly overlain by soft tissue beginning with the head, hands, and anterior lower legs. Disappearance of body parts followed the general sequence: bones of the hands and wrists, bones of the feet and ankles, and the mandible and cranium. The lower legs, forearms, and upper arms are the next units to separate from the body. Known postmortem intervals for remains analyzed ranged from weeks to years and could not reliably be estimated based on the condition of the body at the time of recovery. As parts drop away from a floating carcass in large or current-driven bodies of water, they are often separated from the major body unit. This complicates recovery. Knowledge of disarticulation sequences allows more informed assessment of skeletal element recoveries to be expected and assists in the interpretation of artifacts and events produced by different disarticulating environments.     

The interleukin-5 messenger RNA expression in a patient with idiopathic hypereosinophilic syndrome

Interleukin-5 has a specific role in various eosinophilic activities. It is the predominant cytokine produces by activated T-lymphocytes isolated from patients with idiopathic hypereosinophilic syndrome. We studied a young patient suffering from idiopathic hypereosinophilic syndrome who presented with Horner's syndrome, peripheral neuropathy and skin ulcers. The IL-5 gene expression by CD4+ T-lymphocytes and the peripheral eosinophil count were raised. The skin ulcers continued to deteriorate despite a swift reduction of the IL-5 gene expression and peripheral eosinophil count following systemic corticosteroid treatment. We suggest that peripheral eosinophilia may not be responsible for the damage in skin lesions and more aggressive treatment may be required.     

Subacute multifocal painful neuropathy with spontaneous remission

We present the cases of two patients with subacute onset of multifocal painful neuropathy with spontaneous remission and no relapse. The distribution of pain in patient 1 was hands (median > ulnar nerve region) and feet (peroneal and terminal tibial nerve regions), and in patient 2, hands (ulnar nerve region) and feet, left worse than in right. Both patients experienced facial numbness. Deep tendon reflexes were intact except for absent ankle jerks in patient 2. Motor nerve conduction studies demonstrated a marked prolongation of the distal motor latencies with normal proximal segment conduction velocities, suggesting distal demyelination. Cerebrospinal fluid protein concentration was elevated in patient 2, but no definite abnormality was found on sural nerve biopsy. A demyelinating neuropathy with a monophasic self-limited course may be consistent with Guillain-Barre syndrome (GBS). However, the multifocal painful sensory symptoms with facial numbness and the marked distal nerve conduction slowing in our cases are not consistent with GBS.     

Pathophysiology and treatment of painful diabetic neuropathy of the lower extremity

BACKGROUND: Symptomatic peripheral neuropathy is the most common complication of diabetes mellitus, affecting up to 62% of Americans with diabetes. METHODS: We reviewed the literature using the National Library of Medicine's MEDLINE search service. In total, we reviewed 54 articles. RESULTS: Hyperglycemia leads to increased activity in the polyol pathway in nerve cells; this ultimately results in abnormal nerve function. Numerous pharmacologic agents have been used to treat symptomatic peripheral neuropathy, but all of these drugs can be associated with adverse side effects. Recent work has indicated that subsensory electrical stimulation may be preferred to pharmacotherapy, since it is equally effective and has a more favorable safety profile. CONCLUSION: Although the pathophysiology of diabetic neuropathy is well understood, treatment of the symptoms associated with this condition can be challenging. Additional research is needed to reveal a safe and effective treatment for this debilitating sequela of diabetes mellitus.     

Clonazepam: benzodiazepine therapy for the restless legs syndrome

Clonazepam is one of several agents used for the treatment of the restless legs syndrome of ESRD. The drug's pharmacokinetic profile demonstrates safety in patients with altered kidney function. Future studies may provide an enhanced understanding of the physiological basis of the disorder to lead to improved pharmacological therapy. Other medication alternatives such as narcotics, dopamine agonists, clonidine, and gabepentin are available for patients unable to tolerate or receive benefit from clonazepam.