Sensory ataxic neuropathy and esophageal achalasia in a patient with Sjogren's syndrome

We describe a patient who developed an ataxic sensory syndrome associated with xerophthalmia and progressive dysphagia with regurgitation. Electrophysiological findings were consistent with an axonal sensory neuropathy, and superficial peroneal nerve biopsy showed a reduction in number of myelinated fibers with epineurial inflammation. Rheumatoid factor, anti-SSA/SSB and antinuclear antibodies were positive and a diagnosis of Sjogren's syndrome was made. An endoscopic investigation revealed esophageal achalasia. We suggest that there may be a common autoimmune mechanism directed to different targets on the basis of this rare association.     

Electrophysiological findings of peripheral neuropathy in newly diagnosed type II diabetes mellitus

This study was aimed at assessing the electrophysiological signs of peripheral neuropathy in diabetes mellitus (DM) type II patients at diagnosis. Nerve conduction studies (NCS) of median, ulnar, peroneal, tibial and sural nerves were performed in 39 newly diagnosed DM subjects and compared to those of 40 healthy controls. Metabolic indices were also investigated. Electrophysiological alterations were found in 32 (82%) of the DM patients, and more than half of them (62.2%) showed multiple (two to five) abnormal parameters. Because most of the subjects (84.4%) had from two to five nerves involved, these alterations were widespread in the seven nerves evaluated. Forty-two percent of the patients had NCS alterations suggestive of distal median mononeuropathy, implying that metabolic factors in DM make the median nerve more susceptible to focal entrapment. A reduced sensory nerve action potential (SNAP) amplitude was observed in the median nerve in 70% of the patients, in the ulnar in 69% and in the sural nerve only in 22%. In the presence of a decrease in the SNAP amplitude of the ulnar or median nerve, the SNAP amplitude of the sural nerve was normal in 82 or 80% of the subjects, respectively. This finding may be in keeping with a distal involvement of the sensory fibres, as explored by routine median or ulnar NCS. No correlation was found between metabolic indices and NCS parameters. In conclusion, a high percentage of newly diagnosed DM patients show signs of neuropathy, and upper limb nerve sensory NCS seem to be more sensitive in detecting it than lower limb NCS.     

An atypical case of mononeuritis multiplex in primary Sjogren's syndrome

We present an atypical case of peripheral nervous system (PNS) involvement in Sjogren's syndrome in a 63 year-old woman. Symptoms of an entrapment neuropathy were the first manifestation of the systemic disease and they were subsequently coupled to those of a mononeuritis multiplex. Clinical and laboratory signs for the diagnosis of Sjogren's syndrome became subsequently overt. The mononeuritis multiplex remained clinically limited to the upper limbs and characterized by unusually severe motor symptoms which progressed up to the development of a final complete deplegia. By contrast, sensory symptoms at the upper limbs remained mild over the entire course of the disease and the lower limbs revealed a subclinical sensory-motor damage only during the late stage.     

Sensory loss in multifocal motor neuropathy: A clinical and electrophysiological study

Some patients fulfilling the criteria for the diagnosis of multifocal motor neuropathy with conduction block (MMN‐CB) at the onset of disease may subsequently develop a sensory loss associated with electrophysiological sensory abnormalities. The latter could represent an overlap between MMN‐CB and multifocal acquired demyelinating sensory and motor (MADSAM) neuropathy. The objective was to specify the features of MMN‐CB with sensory loss (MMN‐CB‐Se). Five patients in a series of 11 consecutive patients who fulfilled the criteria of the American Association of Neuromuscular and Electrodiagnostic Medicine for MMN‐CB at the first examination and were treated periodically with intravenous immunoglobulin (IVIg) developed sensory loss in the course of the disease. In these five patients we compared the clinical, laboratory, and electrophysiological features found after the development of sensory loss with those at the first examination. The mean time to appearance of objective sensory signs was 7.2 years. In three of the five patients the sensory loss was preceded by intermittent paresthesias in the same nerve territories as the motor involvement. The most frequent electrophysiological abnormality was amplitude reduction of sensory nerve action potentials. There were no bilateral or symmetrical clinical and electrophysiological sensory abnormalities. Anti‐GM1 IgM antibodies were positive in four patients. MMN‐CB‐Se could be an overlap between MMN‐CB and MADSAM. It shares the distribution of the sensory disorders encountered in MADSAM, but it is closer to MMN‐CB on clinical and therapeutic levels. Study of more patients would be useful to classify this subgroup more accurately. Muscle Nerve, 2009     

Ocular neuropathy in peripheral neuropathies

Ocular movements and coordination require complex and integrated functions of somatic and autonomic nervous systems. Neurological disorders affecting these nervous systems may cause ocular dysfunction involving extraocular muscles and pupils. In this article, the prevalence, clinical presentations, and management of ocular neuropathy related to certain peripheral neuropathies, including diabetic neuropathy, Guillain–Barré syndrome (GBS), chronic inflammatory neuropathies, human immunodeficiency virus (HIV)‐associated neuropathy, and hereditary neuropathies, are examined in detail. Muscle Nerve 46: 681–686, 2012     

Monofocal motor neuropathy: Improvement with intravenous immunoglobulin

Multifocal motor neuropathy (MMN) is a chronic, immune-mediate, peripheral myelinopathy. Inherent in its name, MMN implies involvement of two or more motor nerves. We report three patients with weakness and partial motor conduction block restricted to a single nerve and localized to sites that are not at risk for entrapment or compression injury. None of the patients had sensory involvement and all showed a favorable response to intravenous immunoglobulin therapy. Based on these observations and reports of three additional patients, we believe that monofocal motor neuropathy is a partial form of MMN and should be treated as such.     

Peripheral neuropathy in Cockayne syndrome

Two siblings with Cockayne syndrome are reported. In one case a sural nerve biopsy showed a demyelinating peripheral neuropathy with occasional inclusions in Schwann cells made up of electron dense finely granular material intermingled with vacuoles or lamellar structures. The significance, if any, of this accumulated material remains unclear. The presence, in addition, of small finely lamellar intra-axonal osmiophilic bodies suggests an associated axonal involvement

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Sommario Vengono descritti due casi di Sindrome di Cockayne. In un caso è stata effettuata una biopsia del nervo surale che ha evidenziato una neuropatia periferica di tipo demielinizzante con rare inclusioni nelle cellule di Schwann, formate da materiale osmiofilo finemente granulare, vacuoli e strutture lamellari. Il significato di tali inclusioni è molto incerto. La presenza inoltre di corpi osmiofili lamellari intrassonali suggerisce una associata compromissione assonale.

     

Additional causes for distal sensory polyneuropathy in diabetic patients

OBJECTIVE: To assess the frequency of additional causes of distal sensory polyneuropathy (DSP) in patients with diabetes mellitus (DM). METHODS: Retrospective review of patients with DM and DSP during a 5 year period. A quantitative sensory score (QSS) was determined at the initial evaluation and extensive laboratory and EMG studies were performed. Patients with one or more potential causes for DSP were compared to those with DM alone. RESULTS: Fifty five patients (53%) had potential additional causes for DSP. These included: neurotoxic medications (seven), alcohol abuse (six), and B12 deficiency and renal disease (four each). The most common laboratory abnormalities were: abnormally low levels of vitamin B6 (11) or B1 (10), monoclonal gammopathy (eight), and hypertriglyceridaemia (eight). Twenty six (25%) subjects had more than one additional cause. Nine (9%) had three or more demyelinating features on EMG. There was a trend toward a lower QSS score (p = 0.05) and reduced mean amplitude of the sensory potentials in those with additional causes. Those with additional causes more often had upper limb sensory symptoms (p = 0.001) and sensory findings (p = 0.003). CONCLUSION: There was a high frequency of additional sources of DSP in patients with DM. These patients more often had sensory symptoms and findings in the hands. Tests that may be useful in the evaluation of DSP in diabetic patients include measures of vitamins B1, B6, B12, serum triglycerides, and immunofixation.     

Multifocal sensory demyelinating neuropathy: Report of a case

Introduction: Multifocal sensory demyelinating neuropathy has not been adequately reported in the literature. Methods: A 42‐year‐old man with numbness of the left hand for 3 years and of the right hand for 6 months had a pure multifocal sensory neuropathy involving both hands, most prominently affecting 2‐point discrimination, number writing, and object recognition of the left hand. Near‐nerve needle sensory and mixed nerve conduction studies were performed on the left ulnar nerve. Results: Studies of the left ulnar nerve documented a demyelinating neuropathy characterized by temporal dispersion and marked decrease in the amplitudes of the sensory and mixed compound nerve potentials in the above‐elbow‐axilla segment. With intravenous immunoglobulin treatment, there was improvement in his neuropathic condition. Conclusion: In this study I describe a case of multifocal sensory demyelinating neuropathy as a counterpart of multifocal motor neuropathy. Muscle Nerve 56 : 825–828, 2017     

感觉神经定量检测在糖尿病周围神经病诊断中的应用价值

目的探讨感觉神经定量检测在糖尿病周围神经病诊断中的应用价值。方法对我院内分泌科2013-05—2014-10住院的108例糖尿病患者,男70例,女38例;年龄18~83岁,平均54.96岁,进行感觉神经定量检测。结果感觉神经定量检测正常患者8例(7.4%),感觉神经定量检测异常,诊断为周围神经病患者100例(92.6%),在异常患者中,有无髓鞘神经纤维(C纤维)损伤81例(75%),早期神经损伤41例(40.0%)。结论感觉神经定量检测可以准确、客观地检测糖尿病周围神经病,并可检测早期神经损伤,且作为一种无创的检测,患者依从性强,很适用于临床。     

Clinicopathological studies of peripheral neuropathy in Churg–Strauss syndrome

Clinicopathological studies were performed on the visceral organs and the sural nerve of a male patient with Churg–Strauss syndrome (CSS) in order to understand the mechanisms of peripheral nervous system damage. A 67‐year‐old man, with a 2‐year history of bronchial asthma, developed acutely painful paraplegia and dyspnea. Laboratory data showed a leukocytosis, an elevated serum creatinine kinase (CK) and marked eosionophilia. Autoantibodies including p‐ and c‐ANCA were negative. Electrophysiological studies revealed a severe sensory‐motor neuropathy of multiple mononeuritis type. Steroid pulse therapy performed a day after biopsy of skin, muscle and sural nerve was effective in resolving his respiratory and neurological dysfunction but a perforation of an intestinal ulcer occurred which required surgical intervention. In the biopsied sural nerve and the surgically resected intestine and mesentery there was vasculitis with fibrinoid necrosis accompanied by numerous eosinophils and macrophages containing eosinophil cationic protein (ECP). These findings suggest that in addition to ischemic changes due to vasculitis some neurotoxic substances generated by the eosinophils may be involved in the development of neuropathy in CSS.     

Demyelinating peripheral neuropathy in Creutzfeldt-Jakob disease.

We describe 2 patients of Jewish Libyan descent, who presented with a clinical syndrome compatible with Creutzfeldt-Jakob disease and who were found to have a mutation of codon 200 in the prion protein. The patients developed symptoms and signs of peripheral nerve involvement diagnosed by electrodiagnostic and histopathological studies as demyelinating neuropathy. This may be a rare manifestation of Creutzfeldt-Jakob disease.     

Krabbe's disease presenting as a peripheral neuropathy

A 13-year-old female initially presented with scoliosis and pes cavus. Initial examination revealed distal lower extremity weakness and sensory loss, as well as greater auricular nerve hypertrophy. There was a Babinski sign on the right. Nerve conduction velocities were consistent with a demyelinating neuropathy. Four years after initial presentation she developed lower extremity spasticity and bilateral Babinski signs. Magnetic resonance imaging of the brain showed diffuse white matter disease. Laboratory evaluation revealed an abnormally low galactocerebroside beta-galactosidase level. Nerve biopsy demonstrated inclusions consisting of globoid clusters and evidence of demyelination. DNA analysis was used to identify mutations consistent with Krabbe's disease. Patients presenting with an atypical peripheral neuropathy should be evaluated for Krabbe's disease. © 1997 John Wiley & Sons, Inc. Muscle Nerve, 20: 1024–1028, 1997     

Median nerve ultrasound in diabetic peripheral neuropathy with and without carpal tunnel syndrome

Introduction: Median nerve ultrasound shows increased cross‐sectional area (CSA) in carpal tunnel syndrome (CTS) and diabetic peripheral neuropathy (PN). The role of ultrasound in diagnosing CTS superimposed on diabetic PN is unknown. The objective of this study is to evaluate ultrasound for diagnosis of CTS in diabetic PN. Methods: Prospective recruitment of diabetics with electrodiagnostically proven PN, subdivided into cases (with CTS) or controls (without CTS). The gold standard for CTS was clinical diagnosis. NCS were correlated with blinded median nerve CSA ultrasound measurements. Results: Eight cases (CTS) and eight controls (no CTS) were recruited. Nerve conduction studies (NCS): Median nerve distal latencies (antidromic sensory; palmar; lumbrical motor; and lumbrical motor to ulnar interosseous difference) were significantly prolonged in CTS cases. No ultrasound measurement (distal median CSA, wrist‐forearm ratio, wrist‐forearm difference) reached significance to detect CTS. Area under the curve was greatest for lumbrical distal latency by receiver operator characteristic analysis (0.85). Conclusions: In this pilot study, NCS may be superior to ultrasound for identification of superimposed CTS in diabetic PN patients, but larger numbers are needed for confirmation. Muscle Nerve 47: 437–439, 2013     

2型糖尿病并发糖尿病周围神经病变与代谢综合征的关系

目的 探讨2型糖尿病(T2DM)并发糖尿病周围神经病变(DPN)与代谢综合征(MS)的关系。方法 选取我院收治的T2DM患者95例,按是否并发MS进行分组,并发MS 45例为研究组,无MS为对照组50例。2组均进行电生理检查、MS相关指标的血液、尿液标本测定,统计2组DPN发生率,比较2组SCV和MCV及MS相关指标水平,并进行影响DPN的多因素Logistic回归分析。结果 研究组DPN发生率为62.22%,对照组为12.00%,差异有统计学意义(P0.01)。2组左右腓神经SCV、MCV比较有显著差异(P0.01)。2组TC、TG、LDL-C比较差异无统计学意义(P0.05),2hINS、UA、HbA1c、CRP、UAER水平比较有明显差异(P0.01)。多因素Logistic回归分析结果显示,HbA1c、UAER、2hINS、CRP等MS相关指标异常均为DPN的危险因素。结论 T2DM并发DPN与MS密切相关,MS相关指标,如HbA1c、UAER、2hINS等水平过高是导致DPN发生的高危因素,故临床在控制血糖的时候应注重患者MS相关指标的检测与调控。     

Diabetes mellitus and the peripheral nervous system: manifestations and mechanisms

Diabetes targets the peripheral nervous system with several different patterns of damage and several mechanisms of disease. Diabetic polyneuropathy (DPN) is a common disorder involving a large proportion of diabetic patients, yet its pathophysiology is controversial. Mechanisms considered have included polyol flux, microangiopathy, oxidative stress, abnormal signaling from advanced glycation endproducts and growth factor deficiency. Although some clinical trials have demonstrated modest benefits in disease stabilization or pain therapy in DPN, robust therapy capable of reversing the disease is unavailable. In this review, general aspects of DPN and other diabetic neuropathies are examined, including a summary of recent therapeutic trials. A particular emphasis is placed on the evidence that the neurobiology of DPN reflects a unique yet common and disabling neurodegenerative disorder.     

HIV neuropathy in South Africans: Frequency,characteristics, and risk factors

The purpose was to estimate the frequency, characteristics, and risk factors of HIV‐associated distal sensory polyneuropathy (DSP) among South Africans who attend an urban community‐based clinic. In a cross‐sectional study, neuropathy status was determined in 598 HIV‐infected adults using validated tools (Brief Peripheral Neuropathy Screen and a modified version of the Total Neuropathy Score) to categorize subjects as DSP versus no DSP. Symptomatic DSP (SDSP) required the presence of at least two neuropathic signs together with symptoms. Clinical, anthropometric, and laboratory evaluations were prospectively performed. CD4 counts, antiretroviral therapy (ART), and questionnaires regarding previous tuberculosis (TB) and alcohol exposure were collected retrospectively. Approximately half (49%) of the study population were diagnosed with DSP, and 30% of the study population were diagnosed with SDSP. In multivariate analyses the odds ratio (OR) (95% confidence interval) of DSP were independently associated with ART use (OR 1.7, 1.0–2.9), age (per 10 year increment) (OR 1.7, 1.4–2.2), and prior TB (OR 2.0, 1.3–3.0). Pain or paresthesias were reported as moderately severe by 70% of those with SDSP. Stavudine use was significantly associated with DSP. DSP is a clinically significant problem in urban HIV‐infected Africans. Our findings raise the possibility that the incidence of DSP may be reduced with avoidance of stavudine‐containing regimens in older subjects, especially with a history of prior TB infection. Muscle Nerve, 2010     

Sensorimotor neuropathy in hemophagocytosis syndrome

Hemophagocytosis syndromes are uncommon disorders marked by generalized proliferation of benign histiocytes and multiple organ failure. A 24-year-old woman presented with a fulminant illness consisting of fever, hepatic insufficiency and anemia, followed by respiratory compromise, cardiomyopathy, and uremia. She developed a sensorimotor polyneuropathy, with normal cerebrospinal fluid findings. Sural nerve biopsy demonstrated mild to moderate axonopathy, with regeneration and occasional segmental demyelination/remyelination. The recent and old hemorrhages present in the perineurium, and the marked infiltration by foamy histiocytes (macrophages) distributed mostly in the subperineural space, were presumably responsible for the Wallerian degeneration. Documentation of histiocytes in peripheral nerves in hemophagocytosis syndrome has not previously been shown.