eNeurologicalScieNeurologicalSci Vol 16

September 2019

Original Articles

A quality improvement curriculum for the neurology clerkship: A practice-based approach to discharge education

Robert P. McInnis, Andrew J. Lee, Brian Schwartz, Muhammad Fazal, Anna Hohler

  • Article 100196
  • https://doi.org/10.1016/j.ensci.2019.100196
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  • Abstract

    In the Neurology Clerkship at our institution, we introduced a medical education curriculum to increase student competency in providing discharge education to patients with neurologic disease, and to increase knowledge of QI principles. The curriculum was peer-based, in that it was developed by medical students, experienced by medical student clerks, and modified over time with their feedback, which was tracked using exit surveys. Patients counseled were predominantly male (67%) and white (55%), with stroke or TIA together representing the most common diagnoses (58%). A high proportion of students (>85%) agreed that the clerkship project was effective in teaching discharge education, the risk factors for readmission, and increased confidence in providing discharge education. We conclude that medical students are poised to learn QI principals through practice-based curricula, and through practice may improve the quality and safety of care for patients with neurologic disease. This curriculum can be implemented within other services, and with different learners.

Poor emotional well-being is associated with rapid progression in amyotrophic lateral sclerosis

Tino Prell, Robert Steinbach, Otto W. Witte, Julian Grosskreutz

  • Article 100198
  • https://doi.org/10.1016/j.ensci.2019.100198
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  • Abstract

    The study aimed to determine the impact of emotional well-being on disease aggressiveness and survival in amyotrophic lateral sclerosis (ALS). In 224 patients with ALS (without significant cognitive deficits) the revised ALS Functional Rating Scale (physical function), the ALS Assessment Questionnaire (ALSAQ-40) for health-related Quality of Life and survival data were collected. Data analysis comprised logistic regression, Kaplan-Meier curves analyses and Cox regression model. Most patients reported to be worried about how the disease will affect them in the future and 67% reported to feel depressed. Patients with good emotional well-being were characterized by better physical function (higher ALSFRS-R) and lower disease aggressiveness. The association between high emotional well-being and lower disease aggressiveness was confirmed in the univariate analysis and also after adjustment for known predictors of disease progression. In the Kaplan-Meier survival curve analysis the overall 1-year, 2-year and 3-year mortality did not significantly differ between patients with poor and good emotional well-being. Our study demonstrates an association between emotional well-being and disease progression. Knowing that subjective well-being is neither a necessary nor a sufficient cause of health, longitudinal studies are necessary to explore when well-being does and does not influence disease progress and survival in ALS.

Association of sickle cell trait with measures of cognitive function and dementia in African Americans

Nemin Chen, Christina Caruso, Alvaro Alonso, Vimal K. Derebail, ... Hyacinth I. Hyacinth

  • Article 100201
  • https://doi.org/10.1016/j.ensci.2019.100201
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  • Abstract


    The incidence and prevalence of cognitive decline and dementia are significantly higher among African Americans compared with non-Hispanic Whites. The aim of this study was to determine whether inheritance of the sickle cell trait (SCT) i.e. heterozygosity for the sickle cell mutation increases the risk of cognitive decline or dementia Among African Americans.


    We studied African American participants enrolled in the Atherosclerosis Risk in Communities study. SCT genotype at baseline and outcome data from cognitive assessments at visits 2, 4 and 5, and an MRI performed at visit 5 were analyzed for the association between SCT and risk of cognitive impairment and/or dementia.


    There was no significant difference in risk factors profile between participants with SCT (N = 176) and those without SCT (N = 2532). SCT was not independently associated with a higher prevalence of global or domain-specific cognitive impairment at baseline or with more rapid cognitive decline. Participants with SCT had slightly lower incidence of dementia (HR = 0.63 [0.38, 1.05]). On the other hand, SCT seems to interact with the apolipoprotein E ε4 risk allele resulting in poor performance on digit symbol substitution test at baseline (z-score = −0.08, Pinteraction = 0.05) and over time (z-score = −0.12, Pinteraction = 0.04); and with diabetes mellitus leading to a moderately increased risk of dementia (HR = 2.06 [0.89, 4.78], Pinteraction = 0.01).


    SCT was not an independent risk factor for prevalence or incidence of cognitive decline or dementia, although it may interact with and modify other putative risk factors for cognitive decline and dementia.


Case Reports

Leigh syndrome with atypical cerebellar lesions

Marcos Gil Alberto da Veiga, Clara Marecos, Sofia Temudo Duarte, José Pedro Vieira, Carla Conceição

  • Article 100197
  • https://doi.org/10.1016/j.ensci.2019.100197
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  • Abstract

    Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis. It can be caused by more than 75 different gene mutations, of nuclear and mitochondrial origin, involving all respiratory chain complexes, with less than 25% of Leigh syndrome having mitochondrial DNA mutations. The typical pathologic hallmarks are focal, bilateral, and symmetric lesions in the basal ganglia, thalamus, cerebellum, cerebral white matter and spinal cord gray matter, usually with T2WI and FLAIR hyperintensity. The basal ganglia and thalami frequently present with a pattern of cytotoxic edema. We present one case with clinical and analytical features consistent with Leigh Syndrome, with peculiar imaging features, showing dominant cerebellar edematous changes with unexpected petechial component suggestive of microangiopathy. To our knowledge, these features are unreported and suggest the existence of microvascular lesions. Based on the reported imaging findings, we propose that Leigh Syndrome should be added to the differential diagnosis of acute cerebellitis.

Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype

Apirada Thongsing, Theeraphong Pho-iam, Chanin Limwongse, Surachai Likasitwattanakul, Oranee Sanmaneechai

  • Article 100200
  • https://doi.org/10.1016/j.ensci.2019.100200
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  • Abstract

    Case series reports on clinical features of pediatric hereditary neuropathy in Thailand is scarce. Subtype and clinical presentation in childhood-onset CMT differ from adult-onset. The aim of this study is to investigate the CMT phenotype in Thai children.

    We retrospectively reviewed children diagnosed with CMT who followed up with Pediatric Neurology, Siriraj Hospital from January 1999 to June 2016. CMT subtypes determined by clinical presentation and neurophysiologic studies. Mutation analysis of PMP22 genes was performed in all demyelinating cases. The disease burden was assessed by CMT Neuropathy Score version 2 (CMTNSv2), CMT Examination Score (CMTES) and CMT Pediatric Scale (CMTPedS). 30 patients from 29 families with Hereditary Neuropathies, 25 diagnosed with CMT and 5 with HSAN. 8-year-old was the average age at first medical visit with disease-related problems. Twenty (67%) were male. Twenty-three were sporadic (77%). 16.7% was autosomal dominant and 6.7% was autosomal recessive. Clinical presentations in CMT children were walking difficulty and foot deformities. Nine (36%) CMT patients had demyelinating and sixteen (64%) had axonal. Forty percent had a history of delayed walking after 15-month-old. Foot deformities presented in all CMT patients, and twelve had foot surgery. 2 axonal CMT patients were wheelchair-dependence. Mean (SD) CMTNSv2, CMTES and CMTPedS were 15.44(9), 11.05(7) and 34(4) respectively. Our findings suggest Thai CMT children are predominantly axonal type. Patients with low socioeconomic status and mild symptoms may not seek healthcare. International collaboration in genetic testing is crucial in diagnosis and initiation of clinical trials in future.

Adult-onset Still's disease presenting with aseptic meningitis as the first symptom in an elderly patient

Naohito Ito, Makoto Takahashi, Yusuke Miwa, Shinji Kagami, ... Satoshi Orimo

Varicella zoster encephalitis in an immunocompromised patient presented with migraine-type headache: A case report

Shitiz Sriwastava, Anila Kanna, Omar Basha, Jian Xu, ... Edwin George

  • Article 100205
  • https://doi.org/10.1016/j.ensci.2019.100205
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  • Abstract

    Varicella zoster virus (VZV) has been increasingly linked with encephalitis and atypical presentations in immunosuppressed patients. We present a patient with history of immunosuppressant intake for polymyositis who initially presented with throbbing frontal headache that raised the suspicion of migraine. She did not respond to anti-migraine medication and later developed stimulus-induced myoclonus. She then had significant neurological decline and eventually became encephalopathic. Her initial imaging of brain was unremarkable which warranted further investigations. She was then diagnosed to be VZV positive in the cerebrospinal fluid (CSF) sample that confirmed VZV encephalitis. She responded well to IV Acyclovir treatment and her neurological function improved significantly. In this case, there was delay in diagnosis of VZV in the setting of immunosuppression and non-specific clinical presentation. Therefore, we encourage to strongly consider early VZV diagnostic workup and treatment in immunocompromised patients who can present with non-specific symptoms without a typical cutaneous rash.

Effect of intravenous immunoglobulin therapy on anti-NT5C1A antibody-positive inclusion body myositis after successful treatment of hepatitis C: A case report

Motonori Takamiya, Yoshiaki Takahashi, Mizuki Morimoto, Nobutoshi Morimoto, ... Koji Abe

  • Article 100204
  • https://doi.org/10.1016/j.ensci.2019.100204
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  • Abstract

    Inclusion body myositis (IBM) is the commonest idiopathic inflammatory myopathy of older persons. Pathophysiological mechanism of IBM remains unknown; however, an association of IBM with chronic hepatitis C virus (HCV) infection and serum autoantibodies against skeletal muscle protein 5′-nucleotidase 1A (NT5C1A) has recently been reported. No effective treatment for IBM has yet been developed. We here present a 70-year-old man who was anti-NT5C1A antibody-positive in association with IBM and chronic hepatitis C. The initial treatment of ombitasvir/paritaprevir/ritonavir for his chronic hepatitis C was successful; however, his symptoms of IBM did not improve. On the contrary, his quadriplegic paralysis became more severe and he developed dysphagia. Next, steroid pulse therapy was initiated for IBM and, although his hyper-creatine phosphokinase-emia improved, his symptoms did not; indeed, they worsened. Subsequent intravenous immunoglobulin therapy (IVIg) resulted in obvious improvement in his dysphagia. Thereafter IVIg therapy was repeated at approximately 2-monthly intervals. His dysphagia remained improved for more than 1 year; however, his quadriplegia continued to progress slowly. Although IBM can reportedly be associated with hepatitis C, we inferred that there was no direct relationship between these conditions in our patient because his IBM did not improve after treatment of his hepatitis C. Although his IBM-associated quadriplegia did not improve, IVIg therapy did result in improvement in his dysphagia.


Letters to the Editor

Severe relapse of anti-NMDA receptor encephalitis 5 years after initial symptom onset

Hideto Nakajima, Kiichi Unoda, Makoto Hara

  • Article 100199
  • https://doi.org/10.1016/j.ensci.2019.100199
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  • Abstract

    Anti-NMDAR encephalitis is characterized by abnormal behaviour, cognitive dysfunction, seizures, disturbance of consciousness, central hypoventilation, and movement disorders, with a tendency to occur in younger women. Immunotherapy and tumour removal, where applicable, are effective for this disorder. However, previous papers have shown neurological relapse in 12–24% of cases. We present a case of anti-NMDAR encephalitis relapse 5 years after the initial episode. Although the relapse was much more severe than the initial episode, she recovered with aggressive therapy using first- and second-line immunotherapies. Anti- NMDAR encephalitis could relapse with a more severe clinical course after several years. Aggressive immunotherapy including cyclophosphamide must be necessary even for recurrent cases of anti-NMDAR encephalitis.