Enlargement Of Peripheral Nerves Research Articles

The difference in nerve ultrasound and motor nerve conduction studies between autoimmune nodopathy and chronic inflammatory demyelinating polyneuropathy.

Nerve enlargement has been described in autoimmune nodopathy and chronic inflammatory demyelinating polyneuropathy (CIDP). However, comparisons of the distribution of enlargement between autoimmune nodopathy and CIDP have not been well characterized. To fill this gap, we explored differences in the ultrasonographic and electrophysiological features between autoimmune nodopathy and CIDP. Between March 2015 and June 2023, patients fulfilling diagnostic criteria for CIDP were enrolled; among them, those with positive antibodies against nodal-paranodal cell-adhesion molecules were distinguished as autoimmune nodopathy. Nerve ultrasound and nerve conduction studies (NCS) were performed. Overall, 114 CIDP patients and 13 patients with autoimmune nodopathy were recruited. Cross-sectional areas (CSA) at all sites were larger in patients with CIDP and autoimmune nodopathy than in healthy controls. CSAs at the roots and trunks of the brachial plexus were significantly larger in patients with anti-neurofascin-155 (NF155), anti-contactin-1 (CNTN1), and anti-contactin-associated protein 1 (CASPR1) antibodies than in CIDP patients. The patients with anti-NF186 antibody did not have enlargement in the brachial plexus. NCS showed more frequent probable conduction block at Erb's point in autoimmune nodopathy than in CIDP (61.9% vs. 36.6% for median nerve, 52.4% vs. 39.5% for ulnar nerve). Markedly prolonged distal motor latencies were also present in autoimmune nodopathy. Patients with autoimmune nodopathies had distinct distributions of peripheral nerve enlargement revealed by ultrasound, as well as distinct NCS patterns, which were different from CIDP. This suggests the potential utility of nerve ultrasound and NCS to supplement clinical characteristics for distinguishing nodopathies from CIDP.

Vitamin D Deficiency as a Factor Associated with Neuropathic Pain in Multibacillary Type Morbus Hansen

Objective: Morbus Hansen (MH), caused by Mycobacterium leprae, is marked by neuropathic pain. Prior studies link low vitamin D levels to diabetic neuropathic pain, yet research on its role in MH-related neuropathic pain is limited. This study investigates the role of vitamin D deficiency in MH-related neuropathic pain. Materials and Methods: An analytical cross-sectional study was conducted among multibacillary (MB) MH patients at Prof. Dr. I.G.N.G. Ngoerah Hospital, Bali from April to August 2023. Neuropathic pain was assessed using the Douleur Neuropathique 4 (DN4) questionnaire, while serum 25(OH)D levels determined vitamin D status. The cutoff for deficiency was determined via ROC curve analysis. Results: Among 42 participants, those without neuropathic pain exhibited higher mean serum vitamin D levels than those with neuropathic pain (28.69 ± 8.16 vs. 22.11 ± 9.54 ng/ml; p=0.021). The ROC curve identified a cutoff value of 30.25 ng/ml, categorizing participants into vitamin D deficiency (<30.25 ng/ml) and non-deficiency (≥30.25 ng/ml) groups. Bivariate analysis revealed a heightened incidence of neuropathic pain among MH patients with serum vitamin D levels below the designated cutoff point (OR: 6.60; 95%CI: 1.484-29.355; p=0.022). Multivariate analysis indicated that two variables significantly correlated with neuropathic pain in MH patients: vitamin D deficiency (OR: 14.337; 95%CI: 2.431-84.542; p=0.003) and peripheral nerve enlargement (OR: 12.564; 95%CI: 2.096-75.307; p=0.006). Conclusion: Disparities in average vitamin D levels were observed between MH patients with and without neuropathic pain. Vitamin D deficiency, alongside peripheral nerve enlargement, emerged as significant risk factors for neuropathic pain in MH patients.

Exuberant circumferential fibroproliferative neuromas in lipomatosis of nerve: a unifying theory. Illustrative case.

Lipomatosis of nerve (LN) is a rare disorder characterized by the massive enlargement of peripheral nerves, frequently accompanied by generalized fibroadipose proliferation and skeletal overgrowth. The authors have been routinely following a 20-year-old male for lipomatosis of median nerve at the wrist noted shortly after birth. He had undergone resection of the lesion accompanied by sural nerve grafting at another institution. Clinically, although his neurological loss of function has been stable, he has had continued soft tissue growth. Serial magnetic resonance imaging has revealed persistent LN proximal to the repair sites with evidence of fatty proliferation in the sural grafts and continued LN and fatty proliferation distally. There has been a progressive circumferential pattern of fibrosis around the proximal and distal suture lines, which has a similar radiological pattern to desmoid type fibromatosis (a pattern recently described in neuromuscular choristoma [NMC] desmoid-type fibromatosis). Considering the similar reaction of nerve in both LN and NMC despite differing genetic cascades, the authors believe a unifying process occurs in both lesions. The pattern of circumferential fibroproliferation would be most consistent with neuron-mediated growth from unspecified trophic factors, supporting a previously reported a nerve-derived "inside-out mechanism." The clinical consequences of this unifying process are presented.

Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A.

Charcot-Marie-Tooth disease type 1A (CMT1A) is characterized by enlargement and stiffness of peripheral nerves due to edema with large numbers of "onion bulbs" in the endoneurium. Ultrasound elastography seems to be an ideal method to detect this condition. The aim of this study was to analyze the shear wave elastography (SWE) features of peripheral nerves in patients with CMT1A. We included 24 CMT1A patients with a mean age of 28 years, along with 24 age- and gender-matched controls. All patients presented with mutations of the PMP22 gene and showed length-dependent polyneuropathy. The motor nerve conduction velocity (MNCV) of the median nerve ranged from 5.2 to 37.4 m/s. SWE and cross-sectional area (CSA) were used to evaluate the bilateral median nerves at predefined sites in both patients and con-trols. The average elastography value (EV) of the median nerve was 73.5±11.7 kPa in patients with CMT1A and 37.5±6.1 kPa in control subjects. The difference between the two groups was statistically significant (P<0.05). In CMT1A pa-tients, the average EV at the proximal and distal parts of the median nerve were 81.4±9.4 kPa and 65.2±8.1 kPa, respectively. The average CSAs at the proximal and distal parts of the median nerve were 0.29±0.06 cm2 and 0.20±0.05 cm2, respectively. The EV on SWE was positively correlated with CSA (p< 0.01) and negatively correlated with MNCV in the median nerve (p< 0.01). Peripheral nerve stiffness dramatically increases in CMT1A and is correlated with the severity of nerve involvement.

Clinical profile of patients with pure neuritic leprosy: 20 years’ experience at a tertiary referral centre from North India

Introduction Pure neuritic leprosy (PNL) is characterized by enlargement of peripheral nerves, sensory loss without any cutaneous lesions, skin slit smear negativity and a variable lepromin test and histopathology. Methods This was a retrospective analysis of the clinical records of all the leprosy patients enrolled in the Leprosy Clinic, during the years 1999–2019. The patient records fulfilling the diagnostic criteria of PNL were considered for analysis. Results A total of 1225 patients registered leprosy cases, out of which 41 (3.3%) patients were diagnosed with PNL. Mean age was 31 years and 80% patients were male. Multiple nerves were affected in 25 (61%) patients and one nerve was found to be affected in only 16 (39%) patients. Grade 2 deformities were seen in 26 (63%) patients. All patients were treated with multi-drug therapy - 25 patients received the multibacillary regimen and 16 received the paucibacillary regimen; 27 (66%) patients completed the treatment as prescribed. Conclusion Leprosy is the most common treatable cause of peripheral neuropathy. Therefore, early detection of leprosy neuropathy is important for preventing deformities and disabilities. It may be advisable to treat all PNL cases with the multibacillary multidrug therapy in view of higher rate of deformities.

Letter to editor: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.

The data summarized in this letter provide further evidence that the pathogenic mechanism underlying peripheral nerve enlargement as a phenotypic manifestation in PROS (PIK3CA-related overgrowth spectrum) may be genetically distinct from that of intraneural perineuriomas or soft tissue perineuriomas.

Nerve ultrasound evaluation of Guillain-Barré syndrome subtypes in northern China.

Ultrasound (US) studies have demonstrated patchy enlargement of spinal and peripheral nerves in Guillain-Barré syndrome (GBS). However, whether ultrasound yields useful information for early classification of GBS has not been established. We aimed to evaluate nerve ultrasound in patients with GBS in northern China and compare the sonographic characteristics between demyelinating and axonal subtypes. Between November 2018 and October 2019, 38 hospitalized GBS patients within 3wk of disease onset and 40 healthy controls were enrolled. Ultrasonographic cross-sectional areas (CSA) of the peripheral nerves, vagus nerve, and cervical nerve roots were prospectively recorded in GBS subtypes and controls. Ultrasonographic CSA exhibited significant enlargement in most patients' nerves compared with healthy controls, most prominent in cervical nerves. The CSA tended to be larger in acute inflammatory demyelinating polyneuropathy (AIDP) than in acute motor axonal neuropathy (AMAN)/acute motor and sensory axonal neuropathy (AMSAN), especially in cervical nerves (C5: 5.9 ± 1.6 mm2 vs. 7.0 ± 1.7 mm2 , p=.042; C6: 10.5 ± 1.8 mm2 vs. 12.0 ± 2.1 mm2 , p=.033). The chi-squared test revealed significant differences in nerve enlargement in C5 (p < .001), C6 (p < .001), the proximal median nerve (p < .001), and the vagus nerve (p=.003) between GBS and controls. The vagus nerve was larger in patients with autonomic dysfunction than in patients without it (2.3 ± 1.0 mm2 vs. 1.4 ± 0.5 mm2 , p=.003). The demyelinating subtype presented with more significant cervical nerve enlargement in GBS. Vagus nerve enlargement may be a useful marker for autonomic dysfunction.

High-resolution ultrasound in the assessment of peripheral nerves in leprosy: A comparative cross-sectional study.

Detection of peripheral nerve thickening and nerve function impairment is crucial in the diagnosis and the management of leprosy. (1) To document the cross-sectional area, echotexture and blood flow of peripheral nerves in healthy controls and leprosy cases using high-resolution ultrasound, (2) to compare the sensitivities of clinical examination and high-resolution ultrasound in detecting peripheral nerve thickening in leprosy. Peripheral nerves of 30 leprosy patients and 30 age- and sex-matched controls were evaluated clinically and by high-resolution ultrasound. When the cross-sectional area of a peripheral nerve on high-resolution ultrasound in a leprosy patient was more than the calculated upper bound of the 95% confidence interval for mean for that specific nerve in controls, that particular peripheral nerve was considered to be enlarged. Cross-sectional areas more than 7.1 mm2 for the radial nerve, 8.17 mm2 for ulnar, 10.17 mm2 for median, 9.50 mm2 for lateral popliteal and 11.21mm2 for the posterior tibial nerve were considered as nerve thickening on high-resolution ultrasound. High-resolution ultrasound detected 141/300 (47%) nerves enlarged in contrast to the 60 (20%) diagnosed clinically by palpation (P < 0.001). Clinical examination identified thickening in 31/70 (44.3%) nerves in cases with impairment of nerve function and 29/230 (12.6%) in the absence of nerve function impairment. High-resolution ultrasound detected thickening in 50/70 (71.4%) nerves with impairment of function and in 91/230 (39.6%) nerves without any impairment of function. A single-centre study design was the major study limitation. High-resolution ultrasound showed greater sensitivity than clinical examination in detecting peripheral nerve thickening in leprosy cases. High-resolution ultrasound, may therefore improve the sensitivity of the diagnostic criterion of peripheral nerve enlargement in the diagnosis and classification of leprosy.

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.

SummaryIndividuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this article, we describe three individuals with this clinical entity and mosaic PIK3CA variants c.3140A>G (p. His1047Arg), c.328_330delGAA (p. Glu110del), and c.1353_1364del (p.Glu453_Leu456del). We conclude that the identification of these mosaic variants in individuals with orofacial asymmetry presenting histopathologically perineurial hyperplasia and/or intraneural pseudo-onion bulb perineurial cell proliferations supports the inclusion of this clinical entity in the PIK3CA-related overgrowth spectrum.

Alternative Leprosy Treatment Using Rifampicin Ofloxacin Minocycline (ROM) Regimen – Two Case Reports

Abstract Introduction. Leprosy is a disease that predominantly affects the skin and peripheral nerves, resulting in neuropathy and associated long-term consequences, including deformities and disabilities. According to the WHO classification, there are two categories of leprosy, paucibacillary (PB) and multibacillary (MB). The standard treatment for leprosy employs the use of WHO MDT (Multi Drug Treatment) regimen, despite its multiple downsides such as clofazimine-induced pigmentation, dapsone-induced haematological adverse effects, poor compliance due to long therapy duration, drug resistance, and relapse. Multiple studies and case reports using ROM regimen have reported satisfactory results. Nevertheless, there are still insufficient data to elucidate the optimum dosage and duration of ROM regimen as an alternative treatment for leprosy. Previous experience from our institution revealed that ROM regimen given three times weekly resulted in a satisfactory outcome. Case Reports. We report two cases of leprosy treated with ROM regimen from our institution. The first case was PB leprosy in a 64-year-old male who presented with a single scaly plaque with erythematous edge on the right popliteal fossa. Sensibility examination showed hypoesthesia with no peripheral nerve enlargement. Histopathological examination confirmed Borderline Tuberculoid leprosy. ROM regimen was started three times weekly for 6 weeks and the patient showed significant clinical improvement at the end of the treatment with no reaction or relapse until after 6 months after treatment. The second case was MB leprosy in a 24-year-old male patient with clawed hand on the 3rd-5th phalanges of the right hand and a hypoesthetic erythematous plaque on the forehead. Histopathology examination confirmed Borderline leprosy. The patients received ROM therapy 3 times a week with significant clinical improvement after 12 weeks. Conclusion. ROM regimen given three times weekly for 6 weeks in PB leprosy and 12 weeks in MB leprosy resulted in a significant clinical improvement. Thus, ROM regimen could be a more effective, safer, faster alternative treatment for leprosy.

Identical twins with borderline lepromatous leprosy mimicking extensive alopecia areata: A rare presentation

Nineteen-year old identical female twins presented with complaints of progressive hair loss all over the body, sparing the scalp, axillae and pubic region along with a few atrophic scars on the knees, thighs and elbows. A possible diagnosis of atypical presentation of alopecia areata was made. However, in view of history of borderline tuberculoid leprosy in their younger sibling, a complete examination for leprosy was done. There was asymmetrical enlargement of multiple peripheral nerves without any sensory or motor loss. Histopathology confirms the diagnosis of BL Hansens. Such a presentation of leprosy in identical twins is not reported in literature.

Massive enlargement of all peripheral nerves

A 29 year old woman presented with three months of intermittent but increasing bifacial paraesthesia. On close questioning she reported five years of mild intermittent paraesthesiae in both hands and very mild proximal upper limb weakness. Examination revealed a small area of pinprick loss over the left cheek as the only abnormality. Nerve conduction study of both upper limbs demonstrated symmetric distal sensory and motor abnormalities strongly suggestive of demyelination (small or absent sensory potentials and markedly prolonged distal motor latencies). The remainder of extensive neurophysiologic assessment was normal. MRI brain and whole spine revealed massive symmetric enlargement of multiple cranial nerves, nerve roots, brachial and lumbosacral plexuses (Fig. 1A–F), without contrast enhancement. CSF showed albuminocytologic dissociation (protein 1.48 g/L) and extensive blood tests and whole body PET scan were normal. The most likely diagnosis isA.SarcoidosisB.Charcot Marie Tooth (CMT)C.Chronic Inflammatory Demyelinating Polyradiculopathy (CIDP)D.Leprosy CIDP was diagnosed based on these neurophysiologic, CSF and MRI findings and intravenous immunoglobulin (ivIg) was eventually commenced due to increasing symptoms. One year following presentation the patient was largely asymptomatic on maintenance monthly ivIg, with significant improvement in neurophysiologic parameters but no change in MRI features. The striking feature of this case was the extreme discordance between a mild clinical presentation of CIDP and the MRI findings of widespread and massive hypertrophy of multiple cranial nerves, nerve roots and plexuses. This point is highlighted by noting that the dramatic lumbar root and plexus MRI abnormalities were associated with absolutely no symptoms, signs or neurophysiological abnormalities. Massive peripheral nerve enlargement has a relatively limited differential diagnosis. Congenital causes, such as Charcot-Marie-Tooth or Neurofibromatosis; and acquired pathology, in particular leparomatous disease or an infiltrative process such as systemic amyloidosis, seemed unlikely given demyelinating neurophysiology that was clearly reversible with ivIg. Massive nerve root thickening on MRI has been reported in inflammatory conditions. The most common of these being CIDP, but to our knowledge this is the first report of massive cranial nerve enlargement in the condition [1Duggins A.J. McLeod J.G. Pollard J.D. et al.Spinal root and plexus hypertrophy in chronic inflammatory demyelinating polyneuropathy.Brain. 1999; 122: 1383-1390Crossref PubMed Scopus (193) Google Scholar, 2Adachi Y. Sato N. Okamoto T. et al.Brachial and lumbar plexuses in chronic inflammatory demyelinating polyradiculoneuropathy: MRI assessment including apparent diffusion coefficient.Neuroradiology. 2010; 53 ([published Online First: Epub Date]): 3-11https://doi.org/10.1007/s00234-010-0684-7Crossref PubMed Scopus (69) Google Scholar, 3Shibuya K. Sugiyama A. S-i Ito et al.Reconstruction magnetic resonance neurography in chronic inflammatory demyelinating polyneuropathy.Ann Neurol. 2015; 77 ([published Online First: Epub Date]): 333-337https://doi.org/10.1002/ana.24314Crossref PubMed Scopus (85) Google Scholar]. The initial report correlated massive root hypertrophy with a long and disabling disease course [[1]Duggins A.J. McLeod J.G. Pollard J.D. et al.Spinal root and plexus hypertrophy in chronic inflammatory demyelinating polyneuropathy.Brain. 1999; 122: 1383-1390Crossref PubMed Scopus (193) Google Scholar]. However subsequent case series have not found any definite correlation between nerve hypertrophy and disease severity or duration [2Adachi Y. Sato N. Okamoto T. et al.Brachial and lumbar plexuses in chronic inflammatory demyelinating polyradiculoneuropathy: MRI assessment including apparent diffusion coefficient.Neuroradiology. 2010; 53 ([published Online First: Epub Date]): 3-11https://doi.org/10.1007/s00234-010-0684-7Crossref PubMed Scopus (69) Google Scholar, 3Shibuya K. Sugiyama A. S-i Ito et al.Reconstruction magnetic resonance neurography in chronic inflammatory demyelinating polyneuropathy.Ann Neurol. 2015; 77 ([published Online First: Epub Date]): 333-337https://doi.org/10.1002/ana.24314Crossref PubMed Scopus (85) Google Scholar]. It is possible that MRI features differ between the various subtypes of CIDP and focal demyelination on neurophysiological testing of peripheral nerves has been associated with focal reversible contrast enhancement [3Shibuya K. Sugiyama A. S-i Ito et al.Reconstruction magnetic resonance neurography in chronic inflammatory demyelinating polyneuropathy.Ann Neurol. 2015; 77 ([published Online First: Epub Date]): 333-337https://doi.org/10.1002/ana.24314Crossref PubMed Scopus (85) Google Scholar, 4Kuwabara S. Nakajima M. Matsuda S. Hattori T. Magnetic resonance imaging at the demyelinative foci in chronic inflammatory demyelinating polyneuropathy.Neurology. 1997; 48 ([published Online First: Epub Date]): 874-877https://doi.org/10.1212/wnl.48.4.874Crossref PubMed Google Scholar]. However in routine practice MRI abnormalities simply provide supportive evidence of CIDP without specific management implications. The remarkable findings in our case suggest that massive hypertrophy can occur with very mild clinical disease. We propose that recurrent or chronic subclinical inflammation, demyelination and repair can lead to massive hypertrophy, almost as an oyster lays down layers of a pearl. Dr Fong was involved in the management and care of the patient and preparation and drafting of the manuscript. No disclosures relevant to this study are reported. Dr Masters was involved in the management and care of the patient and preparation and drafting of the manuscript and figures. No disclosures relevant to this study are reported. Dr Watson was involved in the management and care of the patient and preparation and drafting of the manuscript. No disclosures relevant to this study are reported.

Use of real-time PCR to rule out Marek’s disease in the diagnosis of peripheral neuropathy

ABSTRACTThis article reports nine cases of neurological disease in brown layer pullets that occured in various European countries between 2015 and 2018. In all cases, the onset of neurological clinical signs was at 4–8 weeks of age and they lasted up to 22 weeks of age. Enlargement of peripheral nerves was the main lesion observed in all cases. Histopathological evaluation of nerves revealed oedema with moderate to severe infiltration of plasma cells. Marek’s disease (MD) was ruled out by real-time PCR as none of the evaluated tissues had a high load of oncogenic MD virus (MDV) DNA, characteristics of MD. Based on the epidemiological data (layers with clinical signs starting at 5–8 weeks of age), gross lesions (peripheral nerve enlargement with a lack of tumours in other organs), histopathological lesions (oedema and infiltration of plasma cells), and no evidence of high load of MDV DNA, we concluded that those cases were due to peripheral neuropathy (PN). PN is an autoimmune disease easily misdiagnosed as MD, leading to a costly enforcement of the vaccination protocol. Additional vaccination against MD does not protect against PN and could worsen the clinical signs by over-stimulating the immune system. Differential diagnosis between PN and MD should always be considered in cases of neurological disease with enlargement of peripheral nerves as the only gross lesion. This case report shows for the first time how real-time PCR to detect oncogenic MDV is a very valuable tool in the differential diagnosis of PN and MD.

Nerve ultrasound as follow-up tool in treated multifocal motor neuropathy.

High-resolution ultrasound is a valuable tool in supporting the diagnosis of multifocal motor neuropathy (MMN) but longitudinal data under therapy are lacking. The change in peripheral nerve ultrasound pattern in patients with MMN was assessed over time. Patients with MMN received a thorough initial examination and follow-up over a period of 6-12months using high-resolution ultrasound of the cervical roots and the nerves of the arms and legs, nerve conduction studies, Medical Research Council Sum Score (MRCSS) and Rotterdam Inflammatory Neuropathy Cause and Treatment Group (INCAT) score to evaluate changes under treatment. The Ultrasound Pattern Sum Score (UPSS) was used as standardized peripheral nerve ultrasound protocol. Seventeen patients with MMN received initial examinations of whom 12 were successfully followed up. All patients with MMN showed at least localized but often multifocal peripheral nerve enlargement. An enlarged overall cross-sectional area as well as enlarged single fascicles (>3mm²) in clinically and electrophysiologically affected (>90%) and unaffected (>70%) nerves were found. The UPSS did not correlate with clinical disability at both visits. However, the change in clinical disability (evaluated as difference in MRCSS) and the change in UPSS correlated significantly inversely (P=0.004). High-resolution sonography of peripheral nerves revealed multifocal nerve enlargement in MMN. Distinct enlargement patterns may support the diagnosis. Ultrasound findings did not correlate well with clinical severity or electrophysiological findings at initial presentation. As changes in UPSS correlated significantly with the clinical course in terms of muscle strength (MRCSS), sonographic assessment may represent a useful tool for therapeutic monitoring.

SEZARY SYNDROME MIMICKING GENERALIZED PSORIASIS VULGARIS

Background: Sezary syndrome is the one type of cutaneous T cell. This disease is characterized by reddish patches or plaques on the skin which extends to whole body into erythroderma, lymphadenopathy and presence of atypical lymphocytes called Sezary cells.Purpose: To know clinical manifestation, examination and management of Sezary syndrome which clinically resembles generalized psoriasis.Case: A man 60 years old came with scaly plaques reddish brown on almost of his body accompanied by lymphadenopathy on the supraclavicular lymph node right and left and accompanied by intense itchy also. Another clinical features were alopecia, palmoplantar hyperkeratosis, onychodysthropy, facies leonine without anesthesia on the lesion and without enlargement of peripheral nerve. From laboratory test, there is an increasing in the number of leukocytes, from the peripheral blood smear examination found Sezary cells and histopathology showed focal athrophy and acanthosis of the epidermis and dense infiltration of lymphocytes in the dermo-epidermal junction and superficial dermis. Case management: Patient received methotrexate (MTX) 3 x 5 mg (1 cylcle) with mometasone furoate 0,1% cream and CTM 3x1 tablet for adjunctive therapy. Methotrexte was discontinued because there are increasing of liver function and deterioration of patient’s condition. After 25 days of treatment, the patient got sepsis and then the patient died. Conclusion: Early onset of Sezary syndrome in this case is difficult to know because the clinical manifestation is similar with psoriasis vulgaris. Supporting examination such as laboratory test, blood smears and histopathology examination could help diagnosis. The presence of lymphadenopathy, atypical lymphocytes in the peripheral blood and extensive skin involvement reflecting the poor prognosis. The most common cause of death was sepsis.

Pain and quality of life in leprosy patients in an endemic area of Northeast Brazil: a cross-sectional study.

BackgroundPain emerges as a challenge in the treatment of leprosy patients. In this study, we describe the prevalence and type of pain in patients with leprosy, and its effect on patients’ quality of life in an endemic area of Northeast Brazil.FindingsA cross-sectional survey of 260 patients attending leprosy reference centres in Sergipe, Northeast Brazil was conducted. Individuals were assessed for the presence and type of pain, skin sensory loss, peripheral nerve enlargement, touch and pinprick sensations, mechanical allodynia and nerve palpation. Participants completed the Douleur Neuropathique 4 questionnaire, and we also used the Brief Pain Inventory scale and the World Health Organization Quality of Life-BREF instrument to arrive at our results. One hundred and ninety-five (75 %) patients reported pain, mostly of the neuropathic type. Pain was moderate in 84 (43.1 %) and severe in 94 (48.2 %) participants. The presence of pain was associated with disability (p = 0.001), leprosy reactions (p = 0.004) and lower quality of life. Most patients with neuropathic pain were treated with steroids, despite their low efficacy for this type of pain.ConclusionPain is highly prevalent among leprosy patients and is associated with low quality of life. Leprosy management should include a systematic assessment of the type of pain a patient experiences in order to provide adequate treatment.Electronic supplementary materialThe online version of this article (doi:10.1186/s40249-016-0113-1) contains supplementary material, which is available to authorized users.

Phenotypes of Charcot-Marie-Tooth Syndrome and Differential Diagnosis Focused in Inflammatory Neuropathies

Charcot-Marie-Tooth disease (CMT), the most frequent form of inherited neuropathy, is a genetically heterogeneous syndrome of the peripheral nervous system with a rather homologous clinical phenotype (slowly progressive distal weakness and muscle atrophy, skeletal deformities, and areflexia in each limb). CMT1 is the autosomal-dominant demyelinating form, and CMT1A (mostly PMP22 duplication) is the most frequent subtype, followed by CMTX1, HNPP (hereditary neuropathy with liability to pressure palsies), CMT1B, or CMT2. As CMT is characterized by slowly progressive motor and sensory disturbances in each limb, it could be misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP) occasionally. Some points can distinguish demyelinating CMT from CIDP. CMT1 patients do not show the conduction block that is frequent in CIDP. In addition, ultrasonographic findings are useful because CMT1 suggests diffuse enlargement of peripheral nerves, whereas CIDP is characterized by asymmetrical or focal enlargement of peripheral nerves. Some CMT1 cases show favorable responses to immunomodulating therapeutics such as corticosteroids, IVIg, and plasma exchange. Such CIDP-like CMT1 (especially CMT1B or CMT2A) shows moderate to high levels of cerebrospinal fluid protein and infiltrated inflammatory macrophages.

Nerve Ultrasound in Peripheral Neuropathies: A Review.

Peripheral neuropathies are one of the most common reasons for seeking neurological care in everyday practice. Electrophysiological studies remain fundamental for the diagnosis and etiological classification of peripheral nerve impairment. The recent technological development though of high resolution ultrasound has allowed the clinician to obtain detailed structural images of peripheral nerves. Nerve ultrasound mainly focuses on the evaluation of the cross sectional area, cross sectional area variability along the anatomical course, echogenity, vascularity and mobility of the peripheral nerves. An increase of the cross sectional area, hypervascularity, disturbed fascicular echostructure and reduced nerve mobility are some of the most common findings of entrapments neuropathies, such as the carpal or cubital tunnel syndrome. Both the cross-sectional area increase and the hypervascularity detected with the Doppler technique seem to correlate significantly with the clinical and electrophysiological severity of the later mononeuropathies. Significantly greater cross sectional area values of the clinically affected cervical nerve root are often detected in cases of cervical radiculopathy. In such cases, the ultrasound findings seem also to correlate significantly with disease duration. On the other hand, multifocal cross sectional area enlargement of cervical roots and/or peripheral nerves is often documented in cases of immune-mediated neuropathies. None of the later pathological ultrasound findings seem to correlate significantly with the electrophysiological parameters or the functional disability. The aim of this review is to provide a timely update on the role of neuromuscular ultrasound in the diagnostic of the most common entrapment and immune-mediated peripheral neuropathies in clinical practice.

Investigating persistent bilateral ankle swelling

This paper presents a case-report of a young female reporting sudden onset ankle swelling and pain, subcutaneous inflmmation and progressive bilateral pes planus, in the context of no associated co-morbidities or risk factors for autoimmune and infective conditions. We discussed the appropriate imaging techniques which facilitated the diagnosis, which included Xrays, ultrasound and MRI scans used to rule out soft tissue injuries, stress fractures, inflmmatory arthritis, and other causes of peripheral nerve entrapment and tendon pathology. The patient was diagnosed with polyarteritis nodosa based on deep skin biopsy. This is the fist case ever reported showing signifiant peripheral nerve enlargement in the context of small vessel vasculitis. The imaging step-up approach is discussed in relation to the sensitivity and specifiity of different imaging techniques for assessing joint, bone, tendon, ligament and nerve-related pathology. The rarity of this diagnosis in the context of a very common presentation emphasised the need for specialist referral and has signifiant educational value.

Clinical Features of and Treatment Outcome of Neurolymphomatosis: Single Institutional Experience over 7 Years

Abstract Introduction: Neurolymphomatosis (NL) is an extremely rare neurological manifestation of non-Hodgkin lymphoma (NHL) in which peripheral nerve infiltration of lymphoma cells is a dominant feature both clinically and pathologically. Previously, we reported a high frequency of NL as a relapse disease of intravascular large B cell lymphoma (IVL), although NL could present as an initial disease as well as relapsed disease in other types of NHL. In addition, the clinical features and treatment outcomes of NL are largely unknown. However, the recent increase in use of PET/CT in lymphoma has facilitated the diagnosis of NL. Here, we report our experience with NL at our hospital over the period from January 2006 to July 2014. Methods: We reviewed the clinical records at the Hematology/Oncology Department of Kameda Medical Center. The diagnosis of NL required: 1) clinical symptoms and neurological examination findings related to the cranial or spinal nerves; and 2) histological confirmation of malignant lymphoma cells within the peripheral nerve, nerve root/plexus, or cranial nerve; or 3) CT/MRI demonstration of nerve enhancement and/or enlargement of peripheral nerve(s) or nerve root that were also demonstrated by the accumulation of FDG by FDG-PET/CT. Patients with stomach limited mucosa-associated lymphoid tissue (MALT) lymphoma and leukemic infiltration of peripheral nerve due to acute leukemia were excluded from the study. Results: Over the past 7 years, there were 514 patients diagnosed with NHL. Among them, we identified 9 patients (1.8%) diagnosed as having NL. The patients consisted of 2 men and 7 women with a median age of 72 years (range: 63 – 83 years). All 9 patients were histologically diagnosed as a diffuse large B-cell lymphoma (DLBCL). NL occurred as part of the presenting disease in 3 patients and as a relapse disease in the remaining 6 patients. 4 NL patients presented as a relapse disease of IVL, 2 as a relapse disease of nodal DLBCL, and 3 as a concomitant extranodal DLBCL (stomach, ileum, and uterus). CD5 was positive in 7 cases (78%). Diagnosis of NL was made by neurological findings, enlargement and enhancement of affected cranial or peripheral nerves by MRI, and FDG-uptake of affected nerve demonstrated by PET/CT in all patients. Autopsy also confirmed the lymphoma infiltration in 1 patient. The affected nerves included the lumbosacral nerve (5 patients), brachial plexus (2 patients), peroneal nerve (1 patients), cranial nerves (4 patients), especially oculomotor nerve (2 patients), trigeminal nerve (2 patients). Cerebrospinal fluid cytology was positive in 4 cases (44%). All 9 patients received a treatment regimen including high-dose methotrexate (MTX) in addition to rituximab containing systemic chemotherapy. Six patients received involved nerve irradiation, 4 patients at relapse and 2 at presentation. Neurological symptoms of the all patients responded promptly. Six patients subsequently developed CNS involvement despite the prophylactic use of high-does MTX. Six patients died due to progressive NL with a median of 11.3 months after NL development. Three patients are still alive 8, 9, and 92 months from the diagnosis. Two patients received autologous stem cell transplantation (auto-SCT), one survived for more than 7 years but the other relapsed 4 months after auto-SCT and being treated with radiation and chemotherapy. Conclusions: NL occurs in a minority of patients (1.8%) and can present in diverse ways, both at initial diagnosis of lymphoma or after treatment. All of them were DLBCL and 78% were CD5-positive. IVL is a most common type of lymphoma subtype in which develop NL. Contemporary imaging techniques including MRI and PET/CT, can often detect relevant neural involvement. Prognosis remains poor once patient developed NL despite the use of high-dose MTX and rituximab containing aggressive chemotherapy included auto-SCT. Only involved nerve irradiation was effective for the relief of neurologic symptoms. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.