Nerve ultrasound for diagnosing chronic inflammatory neuropathy: A multicenter validation study.

OBJECTIVE: To validate the diagnostic accuracy of a previously described short sonographic protocol to identify chronic inflammatory neuropathy (CIN), including chronic inflammatory demyelinating polyneuropathy (CIDP), Lewis Sumner syndrome, and multifocal motor neuropathy (MMN), and to determine the added value of nerve ultrasound to detect treatment-responsive patients compared to nerve conduction studies (NCS) in a prospective multicenter study. METHODS: We included 100 consecutive patients clinically suspected of CIN in 3 centers. The study protocol consisted of neurologic examination, laboratory tests, NCS, and nerve ultrasound. We validated a short sonographic protocol (median nerve at forearm, upper arm, and C5 nerve root) and determined its diagnostic accuracy using the European Federation of Neurological Societies/Peripheral Nerve Society criteria of CIDP/MMN (reference standard). In addition, to determine the added value of nerve ultrasound in detecting treatment-responsive patients, we used previously published diagnostic criteria based on clinical, NCS, and sonographic findings and treatment response (alternative reference standard). RESULTS: Sensitivity and specificity of the sonographic protocol for CIN according to the reference standard were 87.4% and 67.3%, respectively. Sensitivity and specificity of this protocol according to the alternative reference standard were 84.6% and 72.8%, respectively, and of NCS 76.1% and 93.4%. With addition of nerve ultrasound, 44 diagnoses of CIN were established compared to 33 diagnoses with NCS alone. CONCLUSIONS: A short sonographic protocol shows high diagnostic accuracy for detecting CIN. Nerve ultrasound is able to detect up to 25% more patients who respond to treatment. CLASSIFICATION OF EVIDENCE: This multicenter study provides Class IV evidence that nerve ultrasound improves diagnosis of CIN.

MRI for Detecting Root Avulsions in Traumatic Adult Brachial Plexus Injuries: A Systematic Review and Meta-Analysis of Diagnostic Accuracy.

Background Traumatic brachial plexus injuries affect 1% of patients involved in major trauma. MRI is the best test for traumatic brachial plexus injuries, although its ability to differentiate root avulsions (which require urgent reconstructive surgery) from other types of nerve injury remains unknown. Purpose To evaluate the accuracy of MRI for diagnosing root avulsions in adults with traumatic brachial plexus injuries. Materials and Methods For this systematic review, MEDLINE and Embase were searched from inception to August 20, 2018. Studies of adults with traumatic nonpenetrating unilateral brachial plexus injuries were included. The target condition was root avulsion. The index test was preoperative MRI, and the reference standard was surgical exploration. A bivariate meta-analysis was used to estimate summary sensitivities and specificities of MRI for avulsion. Results Eleven studies of 275 adults (mean age, 27 years; 229 men) performed between 1992 and 2016 were included. Most participants had been injured in motorcycle collisions (84%). All studies were at risk of bias, and there were high applicability concerns for the index test (ie, MRI) in four studies given the lack of diagnostic criteria, inadequate descriptions of pulse sequences, and multiplicity of reporting radiologists. Overall, 72% of patients with brachial plexus injuries had at least one root avulsion (interquartile range [IQR]: 53%-86%); meta-analysis of patient-level data was not performed because of sparse and heterogeneous data. With the nerve root as the unit of analysis, 583 of 918 roots were avulsed (median, 55%; IQR: 38%-71%); the mean sensitivity of MRI for root avulsion was 93% (95% confidence interval [CI]: 77%, 98%) with a mean specificity of 72% (95% CI: 42%, 90%). Conclusion On the basis of limited data, MRI offers modest diagnostic accuracy for traumatic brachial plexus root avulsion(s), and early surgical exploration should remain as the preferred method of diagnosis. Published under a CC BY 4.0 license. Online supplemental material is available for this article.

The coexistence of recurrent cerebral tumefactive demyelinating lesions with longitudinally extensive transverse myelitis and demyelinating neuropathy.

Combined central and peripheral demyelination (CCPD) is a rare chronic inflammatory disorder of the nervous system. In this article, we report on a CCPD patient with a very unusual pattern of central demyelination, comprising recurrent cerebral tumefactive demyelinating lesions (three times, each one in a new area of the brain) and one episode of longitudinally extensive transverse myelitis. This patient could not be classified as having multiple sclerosis, or neuromyelitis optica spectrum disorder, or any other well-known inflammatory disorder of the central nervous system, associated with demyelinating neuropathy. A diagnosis of idiopathic inflammatory demyelinating disorder (IIDD) was made while waiting for more knowledge concerning the diseases currently characterized as IIDD.

Subacute demyelinating polyradiculoneuropathy complicating Epstein-Barr virus infection in GATA2 haploinsufficiency.

INTRODUCTION: Autosomal dominant haploinsufficiency of GATA2 causes monocytopenia and natural killer cell lymphopenia, resulting in predisposition to mycobacterial, fungal, and viral infections. METHODS: Herein we report on the clinical, serologic, electrophysiologic, and pathologic evaluations of a 29-year-old woman with GATA2 haploinsufficiency and active Epstein-Barr virus (EBV) infection complicated by subacute painful neuropathy. RESULTS: Nerve conduction and electromyography studies showed predominantly demyelinating sensorimotor polyradiculoneuropathy. Lumbar spine MRI showed thickening and enhancement of the cauda equina nerve roots. Serum and cerebrospinal fluid anti-IgG and IgM EBV capsid and nucleic acid antibodies were positive. Sural nerve biopsy showed microvasculitis and an increased frequency of fibers with segmental demyelination. Intravenous immunoglobulin and steroids improved the patient's neuropathy. CONCLUSION: GATA2 mutation-related immunodeficiency may predispose to EBV-associated subacute demyelinating polyradiculoneuropathy by both viral susceptibility and immune dysregulation. In patients who present in this manner, immunodeficiency syndromes should be considered when lymphomatous infiltration is excluded. Immunotherapy can be helpful. Muscle Nerve 57: 150-156, 2018.

Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.

Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case series. The aim of our study was to describe the clinical features, diagnostic results, treatment and outcomes in a large cohort of patients with CCPD. Thirty-one patients entered this retrospective, observational, two-center study. In 20 patients (65%) CCPD presented, after an infection, as myeloradiculoneuropathy, encephalopathy, cranial neuropathy, length-dependent peripheral neuropathy, or pseudo-Guillain-Barré syndrome. Demyelinating features of peripheral nerve damage fulfilling European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria for CIDP were found in 23 patients (74%), and spatial dissemination of demyelinating lesions on brain MRI fulfilling the 2010 McDonald criteria for multiple sclerosis (MS) in 11 (46%). Two thirds of the patients had a relapsing or progressive disease course, usually related to the appearance of new spinal cord lesions or worsening of the peripheral neuropathy, and showed unsatisfactory responses to high-dose corticosteroids and intravenous immunoglobulins. The clinical presentation of CCPD was severe in 22 patients (71%), who were left significantly disabled. Our data suggest that CCPD has heterogeneous features and shows frequent post-infectious onset, primary peripheral nervous system or central nervous system involvement, a monophasic or chronic disease course, inadequate response to treatments, and a generally poor outcome. We therefore conclude that the current diagnostic criteria for MS and CIDP may not fully encompass the spectrum of possible manifestations of CCPD, whose pathogenesis remains largely unknown.

The diagnostic value of midbrain hyperechogenicity in ALS is limited for discriminating key ALS differential diagnoses.

BACKGROUND: Hyperechogenicity of the substantia nigra was recently reported in patients with sporadic ALS with a frequency similar to PD. Data on the diagnostic utility compared to key differential diagnoses of ALS do not exist yet. METHODS: We prospectively enrolled 43 patients with ALS, 29 with myasthenia gravis, 25 patients with inflammatory neuropathy, and 13 with cervical canal stenosis. All patients were examined by a blinded investigator using transcranial B-mode sonography planimetrically measuring hyperechogenic areas of the midbrain representing the substantia nigra. RESULTS: Mean midbrain hyperechogenic area was increased in ALS compared to non-ALS differentials. ROC analysis revealed only small area under the curve for detecting ALS (AUC: 0.669 [95%CI: 0.56-0.78]; p = 0.006). Highest Youden index was observed for area size of <0.14 cm(2) (Youden index: 0.28). Using this cut-off score and that generated from normative data of healthy controls, area size measurements provided a sensitivity of only 46-58% and specificity of 69-83% for detecting ALS. No correlations of hyperechogenic area sizes in ALS patients were found to age, gender, ALS subtype (bulbar versus spinal form), disease duration or ALS-FRS-R score. CONCLUSIONS: Midbrain hyperechogenicity is reproducibly found in ALS patients, but its diagnostic value for discriminating ALS from its key differentials is limited.

Nerve ultrasound findings in neuropathy associated with anti-myelin-associated glycoprotein antibodies.

BACKGROUND AND PURPOSE: No systematic nerve ultrasound (US) studies on patients with neuropathy and anti-myelin-associated glycoprotein (anti-MAG) antibodies are available. PATIENTS AND METHODS: Twenty-eight patients (18 men, 10 women, mean age 69.2 ± 10.9 years; mean disease duration 6.9 years) with anti-MAG neuropathy underwent nerve US. Echotexture, nerve cross-sectional area (CSA) and intra-nerve and inter-nerve CSA variability were assessed. The frequency (number of nerves with enlarged CSA, 'enlarged nerves sum score') and distribution (proximal versus distal, arms versus legs, symmetry) of US abnormalities were considered. Controls included two groups: four patients with immunoglobulin M (IgM) paraproteinaemic neuropathy without anti-MAG antibodies and five with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated with IgM paraprotein. RESULTS: In all, 26/28 patients had increased CSA (23 with at least one nerve outside entrapment sites). Intra-nerve CSA variability was abnormal in 21/28 patients (in 14 for increased nerve CSA outside entrapment sites). Inter-nerve CSA variability was abnormal in 16 patients (of whom half for CSA increase out of entrapment sites). The enlarged nerves sum score in anti-MAG neuropathy patients was greater than in MAG-negative paraproteinaemic neuropathies and lower than in CIDP. Intra-nerve variability appeared instead similar in anti-MAG and controls. No correlation was found between US findings and Inflammatory Neuropathy Cause and Treatment Group (INCAT) disability score or disease duration. DISCUSSION: Amongst the different measures to assess the US pattern (symmetry/asymmetry, proximal/distal distribution and sum score), the enlarged nerves sum score was the most useful for differentiating the three groups of patients with demyelinating neuropathies and may contribute to diagnosis in a typical cases.

P1-latency interroot comparison enhances the validity of scalp-recorded somatosensory-evoked potentials to diagnose nerve root dysfunction in sciatica.

STUDY DESIGN: A prospective validity study was done of scalp-recorded somatosensory-evoked potentials as a diagnostic procedure to show lumbosacral radiculopathy in 100 consecutive patients with unilateral or bilateral sciatica. OBJECTIVE: To determine the validity gained by the use of P1-latency interroot comparison to show P1-latency prolongation. SUMMARY OF THE BACKGROUND DATA: The validity of scalp-recorded somatosensory-evoked potentials in diagnosing lumbosacral radiculopathy has been debated and is uncertain. METHOD: Sensory nerves representing nerve roots L4, L5, and S1 were stimulated bilaterally. Height-corrected P1-latency, two new P1-interroot comparison-based criteria, and absence of P1 were studied. The gold standard was defined as clinically-involved nerve roots with radiologic nerve root compression. The false-positive nerve root compression rate was determined, and the gold standard was corrected accordingly. Clinically relevant cut-off values were defined by multilevel likelihood ratio analysis. RESULTS: The positive and negative likelihood ratios of P1-latency prolongation were 6.79 and 0.53, respectively, for the gold standard, and 10.57 and 0.21, respectively, for the corrected gold standard. The validity was not reduced when scalp-recorded, somatosensory-evoked potentials were blinded to the radiologic results. Absence of P1 was associated to the gold standard and the corrected gold standard. Compared with the combined use of P1-latency interside difference and height-corrected latency, the combination of P1-interroot comparison and height-corrected P1-latency increased the sensitivity by 20% for the gold standard and 32% for the corrected gold standard, and when absent P1 was added, the overall sensitivity was 53% for the gold standard and 81% for the corrected gold standard. The corresponding specificity was 92%, and in asymptomatic nerve roots it was 98%. CONCLUSION: The P1-interroot comparison permits the use of scalp-recorded somatosensory-evoked potentials as a contributory "rule in" procedure in patients with sciatica.

Videofluoroscopic evaluation of patients with Guillain-Barré syndrome.

We reviewed 14 patients with clinically confirmed Guillain-Barré syndrome for swallowing dysfunction. All had swallowing dysfunction varying from mild to severe. Six patients (43%) had equivalent impairment during oral and pharyngeal phases. Seven patients (50%) had more severe functional abnormalities during the pharyngeal phase than during the oral phase. One patient (7%) had moderate disorder during the oral phase and mild disorder during the pharyngeal phase. Thirty-six percent of the patients had moderate-to-severe dysfunction during the oral phase, and 71% had moderate-to-severe dysfunction during the pharyngeal phase. In 5 patients who had multiple sequential examinations, moderate or severe swallowing disorders improved to mild-to-moderate disorders within 4-8 weeks after the onset of the symptoms. Residual swallowing disorders may be seen in those who had severe swallowing dysfunction during the later phases of their disease. Further investigations are needed to determine if swallowing abnormalities persist after complete recovery from Guillain-Barré syndrome.

CT muscle imaging and the clinical assessment of neuromuscular disease.

Twenty patients with neurogenic disorders, polymyositis, or muscular dystrophies were assessed clinically and by CT imaging of limb, limb girdle, and trunk muscles, using a standard protocol. On each side of these patients 26 movements were graded by the MRC scale, and 20 muscles were assessed by CT imaging. The clinical and CT findings could be compared, in a blind evaluation, in 10 muscles on each side. A quantitative assessment of the CT muscle images were also made. The CT images showed striking abnormalities, even in many muscles of normal strength by clinical testing. Asymmetrical involvement of muscles was found in all the disorders studied, even when not suspected on clinical examination. Muscles in patients with muscular dystrophy were more abnormal than those in patients with neurogenic disorders. In polymyositis the attenuation values were intermediate to the other two groups. A "washed-out" appearance with very low attenuation values was very suggestive of muscular dystrophy. Involvement of paraspinal and rectus abdominis muscles was uncommon in neurogenic disorders. The gracilis muscle was relatively resistant to degeneration. CT imaging can enhance the clinical assessment of patients with neuromuscular disease, often revealing unexpected abnormalities.

The significance of x-ray examinations of limb musculature in neuromuscular diseases with special regard to childhood diseases.

On the basis of examinations performed on 29 children suffering from various muscular diseases, the authors give a detailed discussion of the application, indication and advantages of muscles x-rays in diagnosing neuromuscular diseases. With the help of x-rays of the musculature an inside view can be obtained in vivo, in a non-invasive manner, of structural changes in the muscles, and the progress of the disease can be followed up objectively. The method opens up new possibilities of diagnosis and promotes a more thorough knowledge of the pathological processes.

Pulmonary involvement in diseases of other systems.

The lungs are often affected in multisystemic processes or in disorders that have their predominant manifestations in other organ systems. Assessment of the type and distribution of the radiographic pattern is helpful in developing an appropriate differential diagnosis for these predominantly extrapulmonary diseases.

[Radiculomyelopathy due to calcification of the cervical ligamenta flava--report of 2 cases and a review of literature].

Calcification of ligamenta flava in the cervical spine is rarely seen. Only few cases in the literature have been available. Recently we have had experience with two cases on that lesion who had progressive radiculomyelopathy. The purpose of this report is not only case presentation but also an analysis of 11 cases from the literature in clinical, radiological and histological aspects. Case 1 was a 60-year-old woman who had numbness in both hands, mild weakness of the right foot on walking and clumsiness of the right hand. Ten years before she had suffered tbc. meningitis, but no history of neck injury. Neurological examination revealed spastic paresis in right extremities, muscle atrophy in both forearms, hypesthesia and hypalgesia in both hands and feet. Vibration sense was disturbed below the knee joint and both feet. Sphincter function was normal. Radiological examination of cervical spine revealed oval calcified nodules in the posterior spinal canal at the level of C34, C45, C56 and C67. These were all situated in the paramedian portion and symmetrically situated at C56. Air myelogram demonstrated that the spinal cord was displaced forward and choked by the posterior situated calcification. Cervical laminectomy was carried out from C2 through Th1 and calcified nodules in the hypertrophied ligamenta flava were successfully removed. Case 2 was also 66-year-old woman who had been suffering from cerebral thrombosis with left hemiparesis. In addition with left hemiparesis she started to complain with paresthesia in right hand, deteriorated numbness in left extremities and gait disturbance developed a year later.(ABSTRACT TRUNCATED AT 250 WORDS)

Ophthalmoplegia, ataxia and hyporeflexia (Fisher's syndrome). With a midbrain lesion demonstrated by CT scanning.

This report concerns a patient with ophthalmoplegia, ataxia and hyporeflexia (Fisher's syndrome) with a lesion in the midbrain tegmentum demonstrated by computerized-tomography (CT) scanning. Spontaneous recovery was almost complete 1 month after the onset. Based upon its strategic location, it is suggested that the lesion can explain the findings in the patient. The CT finding, if confirmed, will necessitate a reconsideration of our current pathogenetic views about Landry-Guillain-Barré syndrome in general and Fisher's syndrome in particular.