Case report of restless anal syndrome as restless legs syndrome variant after COVID-19

Background Coronavirus disease 2019 (COVID-19) has a broad spectrum from respiratory and nasopharyngeal symptoms, cerebrovascular diseases, impaired consciousness, and skeletal muscle injury. Emerging evidence has indicated the neural spread of this novel coronavirus. Restless legs syndrome (RLS) is a common neurological, sensorimotor disorder, but highly under diagnosis disorder. Restless anal syndrome as restless legs syndrome variant associated with COVID-19 has been previously not published. We report a case presenting with restless anal syndrome following COVID-19. Case presentation Although a 77-year-old male with COVID-19 improved to normal respiratory function 21 days after admission and treatment of favipiravir 200 mg per day for 14 days and dexamethasone 6.6 mg per day for 5 days, the insomnia and anxiety symptoms remained. Several weeks after discharge, he gradually began to experience restless, deep anal discomfort, approximately 10 cm from the perineal region. The following features were observed in the anal region; urge to move is essential, with worsening with rest, improvement with exercise, and worsening at evening. Colonoscopy revealed internal haemorrhoids without other rectal lesions. Neurological findings including deep tendon reflex, perineum loss of sensory and spinal cord injury, revealed no abnormalities. Diabetes militias, kidney dysfunction and iron deficiency status were not confirmed. Family history of RLS and periodic limb movements were not observed. Clonazepam at 1.5 mg per day resulted in the alleviation restless anal discomfort. Conclusions We reported a case presenting with restless anal syndrome following affection of COVID-19 as restless legs syndrome variant. This case fulfilled 4 essential features of RLS, urge to move, worsening with rest, improvement with exercise, and worsening at evening. To date, no case of restless anal syndrome associated with COVID-19 has been previously published. This case report may reflect the associative impacts of COVID-19 on the neuropsychiatric state. The long-term outcomes of neuropsychiatric conditions should continue to be monitored.

A Case Report on Late-onset Friedrich's Ataxia and Response on Parkinsonism Treatment

Friedrich's ataxia is a progressive neurodegenerative disease that affects the posterior cord of the spinal tract. We present a case of an 83-year-old male with resting tremor and rigidity that had gradually worsened over the past few years. The patient has been diagnosed with Friedrich's ataxia. Unlike typical Friedrich ataxia, this patient does not have a shortened life expectancy. There is a small percentage of atypical patients demonstrate late-onset of disease, isolated spastic paraparesis without ataxia, and retained or exacerbated deep tendon reflex. Although there is no association between Parkinson's disease and Friedrich's ataxia; in our case, treatment of tremor and rigidity improves the patient's quality of life.

The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy

ObjectivesMitofusin 2 and ganglioside-induced differentiation-associated protein 1 are two main mitochondrial dynamics-related proteins. Dysfunction of these two proteins leads to different subtypes of Charcot–Marie–Tooth disease type 2A (CMT2A) and CMT2K. This study aims to report the pathological difference between CMT2A and CMT2K in a large cohort.MethodsThirty patients with molecularly confirmed CMT2A and nine with CMT2K were identified by next-generation sequencing. Sural nerve biopsies were performed in 29 patients.ResultsThe patients with both diseases showed length-dependent neuropathy with distal weakness, sensory loss, and no deep tendon reflex. Optic neuropathy appeared in 3/30 (10%) patients with CMT2A. Tendon contracture appeared in 4/9 (50.0%) patients with CMT2K. Sural biopsy revealed the loss of both myelinated and unmyelinated nerve fibers. Closely packed, irregularly oriented neurofilaments were observed in axons of unmyelinated nerve fibers in both diseases. Another important finding was the ubiquitous presence of smaller, rounded, and fragmented mitochondria in CMT2A and elongated mitochondria in CMT2K in the myelinated and unmyelinated axons.ConclusionThis study confirmed large diversity in phenotypes between CMT2A and CMT2K. Mitochondrial dynamics-related variations can induce different mitochondrial morphological changes and neurofilament accumulation in axons.

Adult Onset Alexander Disease Presenting as Psychogenic Polydipsia Induced Recurrent Hyponatremia as the Initial Symptom: A Case Report.

BackgroundAlexander disease (AxD, OMIM 203450) is a rare and generally fatal disorder of the central nervous system associated with heterozygous mutations in glial fibrillary acidic protein (GFAP) gene. Neuroradiological and clinical features of adult onset AxD is characterized by involvement of hindbrain structures. Psychiatric manifestations and extensive white matter lesions are very sparse in adult onset AxD.Case presentationWe diagnosed a female with AxD presenting with recurrent hyponatremia caused by psychogenic polydipsia as initial symptom at the onset age of 52-year-old. Neurological examination revealed slightly cognitive decline and brisk deep tendon reflex (DTR) in bilateral lower limbs. The symptoms commonly seen in adult onset AxD such as pseudobulbar signs, ataxia and spasticity were not found in the clinical course of disease. Her mother and elder brother had a history of schizophrenia. The patient has had a history of compulsive water drinking as well as personality change in recent years. Her brain magnetic resonance imaging (MRI) showed extensive involvement of white matter without atrophy of medulla oblongata and cervical spinal cord. The next generation DNA sequencing (NGS) showed a likely pathogenic nonsense mutation C1237C>T(pR413*) in GFAP-ε isoform.ConclusionsOur report enriches the understanding of familial adult onset AxD. Our case also contributes to evidence of pathogenicity of the variants in GFAP-ε as the cause of adult onset AxD.

Deep Tendon Reflex: The Tools and Techniques. What Surgical Neurology Residents Should Know

The deep tendon reflex (DTR) is a key component of the neurological examination. However, interpretation of the results is a challenge since there is a lack of knowledge on the important features of reflex responses such as the amount of hammer force, the strength of contraction, duration of the contraction and relaxation. The tools used to elicit the reflexes also play a role in the quality of the reflex contraction. Furthermore, improper execution techniques during the DTR assessment may alter the findings and cloud the true assessment of the nervous system. Therefore, understanding the basic principles and the key features of DTR allows for better interpretation of the reflex responses. This paper discusses the brief history of reflexes, the development of the reflex hammer, and also the key features of a reflex response encompassing the amplitude of force needed to elicit a reflex response, the velocity of contraction, the strength of contraction, and the duration of contraction and relaxation phases. The final section encloses the techniques of eliciting DTR in the upper extremities, trunk, and lower extremities, and the interpretation of these reflexes.

A Smart Tendon Hammer System for Remote Neurological Examination

The deep tendon reflex exam is an important part of neurological assessment of patients consisting of two components, reflex elicitation and reflex grading. While this exam has traditionally been performed in person, with trained clinicians both eliciting and grading the reflex, this work seeks to enable the exam by novices. The COVID-19 pandemic has motivated greater utilization of telemedicine and other remote healthcare delivery tools. A smart tendon hammer capable of streaming acceleration measurements wirelessly allows differentiation of correct and incorrect tapping locations with 91.5% accuracy to provide feedback to users about the appropriateness of stimulation, enabling reflex elicitation by laypeople, while survey results demonstrate that novices are reasonably able to grade reflex responses. Novice reflex grading demonstrates adequate performance with a mean error of 0.2 points on a five point scale. This work shows that by assisting in the reflex elicitation component of the reflex exam via a smart hammer and feedback application, novices should be able to complete the reflex exam remotely, filling a critical gap in neurological care during the COVID-19 pandemic.

Para Infectious Guillain–Barre Syndrome (GBS) in Covid-19 – A Case Report

Covid-19 is a disease caused by severe acute respiratory syndrome corona virus 2 (SARS-CoV-2). SARS-CoV-2 which affects respiratory, gastrointestinal and neurological systems. It not only causes atypical pneumonia with acute respiratory distress syndrome (ARDS), but also, acute cardiac damage, acute renal failure and gastrointestinal complications.1 It is a disorder that not only presents with fever and respiratory symptoms but can involve the nervous system with varied presentations in form of cerebrovascular accident, loss of taste, loss of smell, myelopathy, neuropathy, meningitis and encephalitis.2 Some cases of Guillain–Barre syndrome (GBS) associated with SARS-CoV-2 have been reported in the literature. GBS is acute immune mediated inflammatory polyradiculopathy.3 GBS presents as limb weakness or cranial nerve weakness, loss of deep tendon reflex, autonomic dysfunction due to peripheral nerve demyelination and sensory root demyelination.

The Flipped Classroom Is Effective for Medical Students to Improve Deep Tendon Reflex Examination Skills: A Mixed-Method Study

Background: Deep tendon reflexes (DTR) are a prerequisite skill in clinical clerkships. However, many medical students are not confident in their technique and need to be effectively trained. We evaluated the effectiveness of a flipped classroom for teaching DTR skills. Methods: We recruited 83 fifth-year medical students who participated in a clinical clerkship at the Department of General Medicine, Chiba University Hospital, from November 2018 to July 2019. They were allocated to the flipped classroom technique (intervention group, n=39) or the traditional technique instruction group (control group, n=44). Before procedural teaching, while the intervention group learned about DTR by e-learning, the control group did so face-to-face. A 5-point Likert scale was used to evaluate self-confidence in DTR examination before and after the procedural teaching (1=no confidence, 5=confidence). We evaluated the mastery of techniques after procedural teaching using the Direct Observation of Procedural Skills (DOPS). Unpaired t-test was used to analyze the results of the 5-point Likert scale and DOPS. We assessed self-confidence in DTR examination before and after procedural teaching using a free description questionnaire in the two groups. Additionally, in the intervention group, focus group interviews (FGI) (7 groups, n=39) were conducted to assess the effectiveness of the flipped classroom after procedural teaching.Results: Pre-test self-confidence in the DTR examination was significantly higher in the intervention group than in the control group (2.8 vs. 2.3, P=0.005). Post-test self-confidence in the DTR examination was not significantly different between the two groups (3.9 vs. 4.1, P=0.31), and so was mastery (4.3 vs. 4.1, P=0.68). The questionnaires before the procedural teaching revealed themes common to the two groups, including “lack of knowledge” and “lack of self-confidence.” Themes about prior learning, including “acquisition of knowledge” and “promoting understanding,” were specific in the intervention group. The FGI revealed themes including “application of knowledge,” “improvement in DTR technique,” and “increased self-confidence.” Conclusions: Teaching DTR skills to medical students in flipped classrooms improves readiness for learning and increases self-confidence in performing the procedure at a point before procedural teaching.