Charles M. Harper

Distinction between neo plastic and radiation‐induced brachial plexopathy, with emphasis on the role of EMG

results of clinical, radiologic, and electro physiologic studies are retrospectively reviewed for 55 patients with neo plastic and 35 patients with radiation-induced brachial plexopathy. The presence or absence of pain as the presenting symptom, temporal profile of the illness, presence of a discrete mass on CT of the plexus, and presence of myokymic discharges on EMG contributed significantly to the prediction of the underlying caw of the brachial plexopathy. The distribution of weakness and the results of nerve conduction studies were of no help in distinguishing neo plastic from radiation-induced brachial plexopathy.

IV immunoglobulin does not reverse established weakness in MS: A double-blind, placebo-controlled trial

Background: Immunoglobulin (Ig) administration induces remyelination in the Theiler’s virus model of MS. Methods: A randomized, double-blinded, placebo-controlled trial of IV immunoglobulin (IVIg) was performed in patients with MS who had persistent muscle weakness that had been stable for between 4 and 18 months to determine whether this would improve muscle strength (primary outcome: isometric muscle strength). Patients received either IVIg (0.4 g/kg) or placebo daily for 5 days, then single infusions every 2 weeks for 3 months (total, 11 infusions). Muscle groups identified by clinical measures to have unchanging significant weakness were the major targets for therapeutic response (targeted neurologic deficit [TND]). Results: IVIg was well tolerated. An interim analysis after 67 patients were enrolled indicated no difference in the degree of change in strength between treatment groups in either the TND or non-TND muscle groups at 6 months, and the trial was terminated. There was no apparent benefit in relapse behavior or impairment measures during the 6-month observation period. Nor was there apparent benefit in either patients who remained clinically stable or in those with evidence of disease activity. Patients with active MS during the trial worsened in both TND and non-TND muscle groups. This worsening was seen regardless of whether the clinical manifestations of disease activity involved the TND muscle groups. Conclusions: IVIg does not reverse established weakness in MS. Measurements of isometric muscle strength were reliable (reproducible) indices of strength and may be sensitive, objective methods to document functional changes in impairment in future MS trials.

Reversible MRI findings in a patient with Hashimoto's encephalopathy

Diffuse subcortical MRI signal abnormalities were seen during a subacute exacerbation in a patient with Hashimotos encephalopathy. The patient had an excellent clinical response to corticosteroids. Clinical recovery paralleled normalization of MRI abnormalities and lowering of thyroid microsomal antibody titer.

“Myelodysplasia,” Myeloneuropathy, and Copper Deficiency

We describe a patient with a suspected myelodysplastic syndrome that developed in association with a neurologic disorder resembling subacute combined degeneration but without vitamin B12 deficiency. Ultimately, the hematologic manifestations and the neurologic syndrome were linked to severe copper deficiency. Prompt and complete reversal of the hematologic abnormalities occurred with copper replacement. Serum copper determination should be included in the work-up of patients with anemia and leukopenia of unclear etiology who have associated myeloneuropathy. The hematologic picture can resemble sideroblastic anemia or myelodysplastic syndrome. Hyperzincemia can be an accompanying abnormality even without exogenous zinc ingestion. The reason for the copper deficiency may not be evident.

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

Background: Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes. Methods: Clinical, electrophysiologic, pathologic, and molecular studies were done in 39 patients. Results: In all but one patient, the disease presented in the first 2 years of life. In 9 patients, the myasthenic symptoms included constant or episodic ophthalmoparesis, and 1 patient had a pure limb-girdle phenotype. More than one-half of the patients experienced intermittent exacerbations. Long-term follow-up was available in 25 patients after start of cholinergic therapy: 21 became stable or were improved and 2 of these became asymptomatic; 3 had a progressive course; and 1 died in infancy. In 7 patients who had endplate studies, the average counts of AChR per endplate and the synaptic response to ACh were less reduced than in patients harboring low AChR expressor mutations. Eight patients were homozygous and 23 heterozygous for the common p.N88K mutation. Six mutations, comprising 3 missense mutations, an in-frame deletion, a splice-site mutation, and a nonsense mutation, are novel. Homozygosity for p.N88K was associated with varying grades of severity. No genotype-phenotype correlations were observed except in 8 Near-Eastern patients homozygous for the promoter mutation (c.-38A>G), who had a mild course. Conclusions: All but 1 patient presented early in life and most responded to cholinergic agonists. With early diagnosis and therapy, rapsyn deficiency has a benign course in most patients. There was no consistent phenotype-genotype correlation except for an E-box mutation associated with jaw deformities.

Childhood Onset of Stiff-Man Syndrome

IMPORTANCE Reports of pediatric-onset stiff-man syndrome (SMS) are rare. This may be an underrecognized disorder in child neurology practice. OBJECTIVE To describe patients with disorders in the SMS spectrum beginning in childhood. DESIGN, SETTING, AND PARTICIPANTS This study was a medical record review and serological evaluation conducted at child and adult neurology clinics at the Mayo Clinic, Rochester, Minnesota. Systematic review of the literature was conducted of patients who presented from 1984-2012 with onset of symptomatic SMS occurring at age 18 years or younger. MAIN OUTCOMES AND MEASURES Response to symptomatic and immunotherapies, patient and physician reported, including modified Rankin scale. RESULTS We identified 8 patients with childhood-onset SMS, representing 5% of patients with SMS evaluated at Mayo Clinic during a period of 29 years (4 were girls). The median age at symptom onset was 11 years (range, 1-14 years). The diagnosis in 3 patients was not established until adulthood (median symptom duration at diagnosis, 14 years; range, 0-46 years). The phenotypes encountered were: classic SMS (n = 5, involving the low back and lower extremities), variant SMS (n = 2, limited to 1 limb [with dystonic posture] or back), and progressive encephalomyelitis with rigidity and myoclonus (n = 1). Initial misdiagnoses included functional movement disorder (n = 2), generalized dystonia and parkinsonism (n = 1), and hereditary spastic paraparesis (n = 1). Six patients had 1 or more coexisting autoimmune disorders: type 1 diabetes mellitus (n = 4), thyroid disease (n = 2), and vitiligo (n = 2). Serologic study results revealed glutamic acid decarboxylase 65-IgG in all cases (median value, 754 nmol/L; range, 0.06-3847 nmol/L; normal value, ≤ 0.02 nmol/L) and glycine receptor antibody in 3 cases. Improvements were noted with symptomatic therapy (diazepam, 6 of 6 patients treated, and oral baclofen, 3 of 3 treated) and immunotherapy (intravenous immune globulin, 3 of 4 treated and plasmapheresis, 3 of 4 treated). The 3 patients with glycine receptor antibody all improved with immunotherapy. At last follow-up, 4 patients had mild or no symptoms, but 4 had moderate or severe residual symptoms and required maintenance symptomatic therapy (n = 5) and immunotherapy (n = 4). Ten of 12 pediatric SMS cases identified by literature review had a severe whole-body phenotype resembling progressive encephalomyelitis with rigidity and myoclonus. CONCLUSIONS AND RELEVANCE Childhood-onset SMS is a rare but underrecognized and treatable disorder. Serological and electrophysiological testing aid diagnosis.

Accuracy of electromyography needle placement in cadavers: Non‐guided vs. ultrasound guided

Accuracy of needle electromyography is typically ensured by use of anatomical landmarks and auditory feedback related to voluntary activation of the targeted muscle; however, in certain clinical situations, landmarks may not be palpable, auditory feedback may be limited or not present, and targeting a specific muscle may be more critical. In such settings, image guidance might significantly enhance accuracy.

The significance of intraoperative electromyographic lateral spread in predicting outcome of microvascular decompression for hemifacial spasm

OBJECTIVES During microvascular decompression (MVD) of the facial nerve for hemifacial spasm (HFS), an abnormal muscle response can be recorded upon stimulation of the facial nerve, also known as the lateral spread response. This response may vanish after MVD and has been associated with a successful outcome. The purpose of this study was to determine if resolution of lateral spread correlated with the elimination of HFS in a single surgeons experience. Design and SETTING  (1) Retrospective analysis of 38 patients undergoing MVD with intraoperative electromyography for HFS. (2) Meta-analysis of studies from the literature. MAIN OUTCOME MEASURE Presence or absence of HFS and any complications. RESULTS Lateral spread response was seen in 36 patients; 20 patients had full resolution. Of these, 15 patients became HFS free, and 5 five patients still had some degree of HFS. Sixteen patients had a persistent lateral spread response despite a technically successful MVD; 11 of these became spasm free, and 5 still suffered from some degree of facial twitching. Analyzing 16 studies reporting a total of 1301 patients, a significant correlation (p < 0.0001) between response cessation and resolution of HFS was found. CONCLUSION The role of monitoring lateral spread response as a predictor for clinical outcome is limited.

IVIG versus PLEX in the treatment of worsening myasthenia gravis: What is the evidence? A critically appraised topic

Background:Immune therapies such as intravenous immunoglobulin (IVIG) and plasma exchange (PLEX) are first line in the treatment of worsening myasthenia gravis. Although PLEX is favored in myasthenic crisis, IVIG is increasingly used in exacerbations due to cost and ease of administration. Objectives:To review and critically assess current evidence on the effects of IVIG and PLEX on functional outcomes in patients with worsening myasthenia gravis. Methods:A structured critical appraisal was conducted on the objective topic. This included a creation of a structured question based on a clinical scenario, comprehensive literature search, selection of evidence for review, and critical appraisal of selected evidence. Evidence was summarized and commentary provided. Participants included consultant and resident neurologists, a medical librarian, clinical epidemiologists, and content experts in the field of neuromuscular neurology. Results:A single-blinded, randomized-controlled trial that compared IVIG and PLEX in 84 patients with worsening myasthenia gravis was selected for review. Primary outcome measure was functional status at 14 days after treatment, as assessed by the Quantitative Myasthenia Gravis Score. Change in Quantitative Myasthenia Gravis Score at day 14 for all subjects was 4.0, without statistically significant differences between IVIG and PLEX groups. Conclusions:IVIG and PLEX are equally effective in worsening myasthenia gravis. Treatment decisions may depend on several variables, including presence of respiratory distress, medical comorbidities, access to medication, and cost. PLEX will likely remain the treatment of choice in true myasthenic crisis.

Online Physician Reviews Do Not Reflect Patient Satisfaction Survey Responses

&NA; Online physician reviews have become increasingly prevalent and are a common means by which patients explore medical options online. Currently, there are no data comparing physicians with negative online reviews and those without negative reviews. We sought to compare industry‐vetted patient satisfaction surveys (PSSs), such as Press Ganey (PG) PSSs, between those physicians with negative online reviews and those without negative reviews. Overall, there were 113 unique individuals with negative online reviews from September 1, 2014, to December 31, 2014, with 8 being nonphysicians. We matched 113 physicians in similar departments/divisions. We obtained PG PSS scores of both groups and compared the mean scores of the 2 groups. Press Ganey PSS scores were available for 98 physicians with negative online reviews compared with 82 matched physicians without negative online reviews. The mean raw PG PSS scores were not different between the 2 groups (4.05; 95% CI, 3.99‐4.11 vs 4.04; 95% CI, 3.97‐4.11; P=.92). We also noted no difference in mean scores on questions related to physician‐patient communication and interaction skills between those with poor online reviews and those without (4.38; 95% CI, 4.32‐4.43 vs 4.41; 95% CI, 4.35‐4.47; P=.42). However, there was a significantly lower non–physician‐specific mean in those with negative online reviews (3.91; 95% CI, 3.84‐3.97) vs those without negative online reviews (4.01; 95% CI, 3.95‐4.09) (P=.02). Here, we provide data indicating that online physician reviews do not correlate to formal institutional PG PSS. Furthermore, physicians with negative online reviews have lower scores on non–physician‐specific variables included in the PG PSSs, emphasizing that these discrepancies can negatively affect overall patient experience, online physician reviews, and physician reputation. It is prudent that an improved mechanism for online ratings be implemented to better inform patients about a physicians online reputation.