A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.

BACKGROUND: We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. CASE PRESENTATION: A 35-year-old Chinese male patient presented with a history of progressive finger weakness. Physical examination revealed differential finger extension weakness, together with predominant finger abduction, elbow flexion, ankle dorsiflexion and toe extension weakness. Muscle MRI showed disproportionate fatty infiltration of the glutei, sartorius and extensor digitorum longus muscles without significant wasting. Muscle biopsy and ultrastructural examination showed a non-specific myopathic pattern without nemaline or cap inclusions. Genetic sequencing revealed a novel heterozygous p.Ser246Leu variant (c.737C>T) of the TPM3 gene which is predicted to be pathogenic. This variant is located in the area of the TPM3 gene where the protein product interacts with actin at position Asp25 of actin. Mutations of TPM3 in these loci have been shown to alter the sensitivity of thin filaments to the influx of calcium ions. CONCLUSION: This report further expands the phenotypic spectrum of myopathies associated with TPM3 mutations, as mutations in TPM3 had not previously been reported with adult-onset distal myopathy. We also discuss the interpretation of variants of unknown significance in patients with TPM3 mutations and summarise the typical muscle MRI findings of patients with TPM3 mutations.

Presentation of Dyke-Davidoff-Masson Syndrome in adult male.

Dyk-Davidoff-Masson Syndrome (DDMS) is one of the rare neurological conditions attributed to the development of drug-resistant epilepsy (DRE). The DDMS condition is characterized by cerebral hemisphere asymmetry, where atrophy occurs on one side of the brain and clinically manifests as hemiparesis, seizure disorder, mental retardation, and facial asymmetry. In addition, the condition has various perinatal or postnatal etiologies. Herein, we report the case of a 29-year-old right-handed male with Dyke-Davidoff Masson syndrome and mild right-side weakness. The patient experiences attacks of seizures with stiffness in his right arm and right leg, sometimes experiencing agitation and abnormal movement of the body parts. The MRI of the brain showed asymmetry with atrophic changes involving the left hippocampus, consisting of mesial temporal sclerosis. Additionally, the results showed the presence of gyral hyperintensities over the left parietal region. Therefore, the patient's case is reported with a literature review to support it.

Hypoglycemic hemiparesis as stroke mimic with transient splenial lesion and internal capsule involvement: A reversible clinico-radiological concurrence.

Hypoglycemia presents with a spectrum of neurological manifestations ranging from lightheadedness to confusion and coma. We report here the case of a 61-year-old woman with right hemiparesis presenting within the window period for stroke thrombolysis. MRI brain showed diffusion restriction in posterior limb of left internal capsule and splenium. Patient had documented hypoglycemia of 38 mg/dL. Patient's hemiparesis resolved after glucose correction, and radiological findings completely resolved after 10 days. We present this case to highlight the rare radiological finding of simultaneous internal capsule and splenium involvement in hypoglycemic hemiparesis and the importance to rule out stroke mimics to avoid unwanted thrombolysis.

[Complex physiotherapy for the rehabilitation of patients with postoperative facial muscles paresis]. / Kompleks miogimnastiki kak metod reabilitatsii patsientov s posleoperatsionnymi oslozhneniyami v vide pareza mimicheskoi muskulatury.

THE AIM OF THE STUDY: Was the increasing the effectiveness of treatment and prevention of postoperative complications in the patients with benign tumors of the parotid salivary gland through the combined use of medications, acupuncture, hirudotherapy and a complex of physiotherapy. MATERIALS AND METHODS: The study comprised 94 patients with postoperative complications after surgical treatment of benign tumors of the parotid salivary gland. All patients suffering from paresis of facial muscles were prescribed a physiotherapy complex developed during the study consisting of two series of exercises with alternating execution of the series every other day. The exercises begin with the upper third of the face, gradually descending to the lower third. A series of exercises is performed every hour and a half, the session duration is twenty minutes, the course is 14 days. The exercises are performed by the patient in front of the mirror, gently and at a slow pace. RESULTS: The duration of the recovery period of motor function of the facial muscles on the affected side was 31.2±19.6 days, with the amplitude of the M-response 1.45±0.28 mV, the duration of the M-response 8.04±0.27 ms and the latent time during EMG 3.18±0.86 ms. Conclusion. The combined treatment, which included surgical and conservative treatment complex with methods of acupuncture, hirudotherapy and physiotherapy, was significantly more effective (p<0.05) in terms of the severity of paresis of facial muscles than in the control group.

Serial sarcomere number is substantially decreased within the paretic biceps brachii in individuals with chronic hemiparetic stroke.

A muscle's structure, or architecture, is indicative of its function and is plastic; changes in input to or use of the muscle alter its architecture. Stroke-induced neural deficits substantially alter both input to and usage of individual muscles. We combined in vivo imaging methods (second-harmonic generation microendoscopy, extended field-of-view ultrasound, and fat-suppression MRI) to quantify functionally meaningful architecture parameters in the biceps brachii of both limbs of individuals with chronic hemiparetic stroke and in age-matched, unimpaired controls. Specifically, serial sarcomere number (SSN) and physiological cross-sectional area (PCSA) were calculated from data collected at three anatomical scales: sarcomere length, fascicle length, and muscle volume. The interlimb differences in SSN and PCSA were significantly larger for stroke participants than for participants without stroke (P = 0.0126 and P = 0.0042, respectively), suggesting we observed muscle adaptations associated with stroke rather than natural interlimb variability. The paretic biceps brachii had ∼8,200 fewer serial sarcomeres and ∼2 cm2 smaller PCSA on average than the contralateral limb (both P < 0.0001). This was manifested by substantially smaller muscle volumes (112 versus 163 cm3), significantly shorter fascicles (11.0 versus 14.0 cm; P < 0.0001), and comparable sarcomere lengths (3.55 versus 3.59 µm; P = 0.6151) between limbs. Most notably, this study provides direct evidence of the loss of serial sarcomeres in human muscle observed in a population with neural impairments that lead to disuse and chronically place the affected muscle at a shortened position. This adaptation is consistent with functional consequences (increased passive resistance to elbow extension) that would amplify already problematic, neurally driven motor impairments.

Posturography with head movements in the assessment of balance in chronic unilateral vestibular lesions.

The aim of our study was to validate the method of head-shake static posturography (HS-posturography) in healthy individuals and to establish the value of this novel method in the diagnostics of patients with unilateral vestibular lesion (UV). The study included 202 participants divided into two groups, one consisting of 133 patients with canal paresis CP > 19% and one of 69 healthy subjects. Participant was tested according to the standard protocol of static posturography (SP), and with head movements of 0.3 Hz (HS 40), 0.6 Hz (HS 70) in random order controlled by a metronome. HS-posturography revealed a similar repeatability and internal consistency as the standard posturography. In patients with UV, 4th condition revealed higher sensitivity (74%) and specificity (71%) in HS 40 than in the standard posturography (67%, 65% respectively) and HS 70 (54%, 70% respectively). Static posturography and HS- posturography revealed a high reliability of the testing method. The head movements added to static posturography improve the sensitivity and specificity of the method in group with vestibular impairment. The most important test for that purpose seems to be the one on unstable surface with the eyes closed, with low frequency of head movements.

Case Report: Encephalitis Caused by Balamuthia mandrillaris in a 3-Year-Old Iranian Girl.

It is about half a century since free-living amoebae were recognized as pathogenic organisms, but there is still much we should learn about these rare fatal human infectious agents. A recently introduced causative agent of granulomatous amoebic encephalitis, Balamuthia mandrillaris, has been reported in a limited number of countries around the world. A 3-year-old girl was referred to our tertiary hospital because of inability to establish a proper diagnosis. She had been experiencing neurologic complaints including ataxia, altered level of consciousness, dizziness, seizure, and left-sided hemiparesis. The patient's history, physical examination results, and laboratory investigations had led to a wide differential diagnosis. Computed tomography (CT) scan and magnetic resonance imaging analyses revealed multiple mass lesions. As a result, the patient underwent an intraoperative frozen section biopsy of the brain lesion. The frozen section study showed numerous cells with amoeba-like appearances in the background of mixed inflammatory cells. Medications for free-living amoebic meningoencephalitis were administered. PCR assay demonstrated B. mandrillaris as the pathogenic amoeba. Unfortunately, the patient died 14 days after her admission. To our knowledge, this is the first report of B. mandrillaris meningoencephalitis in the Middle East and the first time we have captured the organism during a frozen-section study.

Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.

Elongator is a multi-subunit protein complex bearing six different protein subunits, Elp1 to -6, that are highly conserved among eukaryotes. Elp2 is the second major subunit of Elongator and, together with Elp1 and Elp3, form the catalytic core of this essential complex. Pathogenic variants that affect the structure and function of the Elongator complex may cause neurodevelopmental disorders. Here, we report on a new family with three children affected with a severe form of intellectual disability along with spastic tetraparesis, choreoathetosis, and self injury. Molecular genetic analyses reveal a homozygous missense variant in the ELP2 gene (NM_018255.4 (ELP2): c.1385G > A (p.Arg462Gln)), while in silico studies suggest a loss of electrostatic interactions that may contribute to the overall stability of the encoded protein. We also include a comparison of the patients with ELP2-related neurodevelopmental disorder to those previously reported in the literature. Apart from being affected with intellectual disability, we have extremely limited clinical knowledge about patients harboring ELP2 variants. Besides providing support to the causal role of p.Arg462Gln in ELP2-related neurodevelopmental disorder, we add self-injurious behavior to the clinical phenotypic repertoire of the disease.

Cognition assessments to predict inpatient falls in a subacute stroke rehabilitation setting.

Background: Stroke-related falls occur at especially high rates in rehabilitation settings. Inpatient-hospital falls have been identified as one of the most common medical complications after stroke, negatively influencing recovery, nevertheless, the role of cognition in relation to falls during inpatient rehabilitation is largely unexplored. Objective. We aim to predict inpatient falls in a subacute stroke rehabilitation setting using previously reported variables such as stroke severity, gender, age, ataxia, hemiparesis, and functionality in activities of daily living, further extending them with specific cognition variables assessing memory, verbal fluency, attention, and orientation. Methods: This observational study included 158 stroke patients admitted to a rehabilitation center between 2007 and 2019, with less than 30 days since stroke onset to admission. Stroke severity was assessed using the National Institutes of Health Stroke Scale (NIHSS). Four logistic regressions were performed including NIHSS, age, sex, ataxia, and hemiparesis plus one of the following: (1) Functional Independence Measure cognitive (C-FIM) and motor (M-FIM) subtests. (2) individual C-FIM items, (3) Ray Auditory Verbal Memory Test (RAVLT) and (4) verbal fluency test (PMR), Digit Span from Wechsler Adult Intelligence Scale (WAIS III), and Orientation from Test Barcelona. Results: Neither NIHSS, age, sex, ataxia nor hemiparesis predicted falls. C-FIM was a significant predictor (AUC:0.891), but not M-FIM. The problem solving C-FIM item (AUC:0.836), the RAVLT learning subtest (AUC:0.879), and PMR verbal fluency (AUC:0.871) were significant predictors for each model, respectively. Conclusions: Cognition assessments, i.e., one FIM item, one RAVLT item, or a one-minute verbal fluency test are significant falls predictors.

Deficits underlying handgrip performance in mildly affected chronic stroke persons.

BACKGROUND: Knowledge of the deficits underlying handgrip performance is fundamental for the development of targeted interventions. OBJECTIVES: The purpose of this study was to evaluate maximal handgrip strength, fatigue resistance, grip work, and muscle fatigue in mildly affected stroke persons. METHODS: We conducted a prospective observational study. A total of 20 individuals after a first unilateral ischemic/hemorrhagic chronic stroke (months poststroke: mean 33.64 ± 19.60), mildly affected according to functional score (FIM: 112.71 ± 16.14) and with arm motor impairment (upper-extremity Fugl-Meyer score: mean 57.07 ± 7.82 on the contralesional side); and 20 sex and age-matched controls were included. The outcomes assessed were maximal handgrip strength evaluated through maximal voluntary contraction, fatigue resistance defined as the seconds during which grip strength dropped to 50% of its maximum and gripwork, which was calculated using the equation grip work = maximal grip strength * 0.75 * fatigue resistance. Muscle fatigue was assessed using surface electromyography during a sustained contraction over 50% of maximal voluntary contraction. RESULTS: Persons with stroke demonstrated significantly reduced handgrip performance regarding maximal handgrip strength, resistance to fatigue, grip work, and muscle fatigue for the contralesional hand. In addition, a reduced grip resistance and muscle fatigue was shown for the ipsilesional hand compared with controls. We found no effect of the hemispheric side of the lesion on the grip performance measures assessed. CONCLUSIONS: Our findings provide evidence that handgrip performance remain impaired after 6 months after stroke, and may serve as a target for interventions to improve these abilities after stroke.

Acute viral encephalitis associated with human parvovirus B19 infection: unexpectedly diagnosed by metagenomic next-generation sequencing.

We report here a case of a 17-year-old boy with viral encephalitis associated with human parvovirus B19 who presented consciousness disturbance, left hemiparesis, and focal neurologic signs. The diagnosis was based on the specific sequence reads corresponding to human parvovirus B19 (PVB19) in a CSF sample as analyzed by metagenomic next-generation sequencing (mNGS). Thus, PVB19 should be considered in the differential diagnosis of encephalitis and encephalopathy of unknown etiology. The introduction of mNGS into the diagnostic protocol of neuropathies, especially for those undiagnosed, could interrogate all genetic information in a biologic sample and facilitate the identification of the etiological agent.

Sinking skin flap syndrome visualized by upright computed tomography.

Sinking skin flap syndrome is a craniectomy complication characterized by new neurological dysfunction that typically worsens in the upright position and improves after cranioplasty. We present a 33-year-old man who experienced hemiparesis in the upright position after craniectomy. Upright computed tomography (CT) before cranioplasty showed a remarkable shift of the brain compared to supine CT. After cranioplasty, both symptoms and brain shift on CT resolved. Upright CT enables detection and objective evaluation of paradoxical herniation and midline shift that is not obvious on supine imaging modalities. Clinicians need to be aware of positional brain shift in postcraniectomy patients.

Uncrossed corticospinal tracts in a patient with ichthyosis and hemiparesis: a case report.

BACKGROUND: Anomalies of pyramidal tract decussation are rare phenomena that can be caused by ectodermal dysplasia. Herein, we describe a patient with ichthyosis who exhibited ipsilateral hemiparesis after stroke and whose neuroimaging results showed evidence of motor control being provided by the ipsilateral motor cortex. CASE PRESENTATION: A 24-year-old right-handed man presented with skin abnormalities, sudden-onset left hemiparesis, and dysarthria. He exhibited a mild-to-moderate left-sided weakness (grade 4 on the Medical Research Council scale). Magnetic resonance imaging revealed an acute infarct in the left corona radiata. Diffusion tensor imaging revealed uncrossed corticospinal tracts. Next-generation sequencing identified heterozygous FLG mutations. The patient was diagnosed with cerebral infarction and ichthyosis vulgaris and was treated with aspirin (100 mg/d). His symptoms gradually dissipated. CONCLUSIONS: This case suggests that pyramidal decussation anomalies can be associated with ichthyosis. Patients with ichthyosis should therefore be evaluated for nerve involvement.

Wallerian Degeneration of the Cerebral Peduncle and Association with Motor Outcome in Childhood Stroke.

BACKGROUND: To evaluate the presence of Wallerian degeneration and its relationship with sensorimotor deficits following childhood-onset arterial ischemic stroke (AIS). METHODS: Children surviving unilateral AIS older than one month of age were assessed for severity of sensorimotor neurological deficit with the Pediatric Stroke Outcome Measure at least one year post stroke (mean follow-up = 2.9 years, S.D. = ±1.6). The area (mm3) of each cerebral peduncle was measured on T2-weighted magnetic resonance images to calculate an Asymmetry Index (AI). The AI between patients with childhood stroke (cases) and controls (children with normal MRI) was compared. In the stroke group, the AI between patients with good and poor motor outcome, and the correlation between the AI and motor outcome was calculated. RESULTS: Asymmetry was compared in 52 children with stroke (cases) and 20 controls (normal brain MRIs). The AI was greater in patients with stroke (mean = 6.8%, S.D. = ±5.9) compared with controls (mean = 3.4%, S.D. = ±3.5, P < 0.02). Patients with poor outcome had an AI of 10% or greater compared with patients with good outcome (mean 10.4 versus 4, P < 0.001), and the AI was moderately correlated with motor deficit severity (r = 0.582, P = 0.001). CONCLUSIONS: Asymmetry of the cerebral peduncle is a feasible method of assessing Wallerian degeneration in children with unilateral AIS. The degree of asymmetry in the cerebral peduncles was moderately correlated with neurological outcome severity and reflects the degree of motor deficit in children following stroke.

Functional Deficits in the Less-Impaired Arm of Stroke Survivors Depend on Hemisphere of Damage and Extent of Paretic Arm Impairment.

Background. Previous research has detailed the hemisphere dependence and specific kinematic deficits observed for the less-affected arm of patients with unilateral stroke. Objective. We now examine whether functional motor deficits in the less-affected arm, measured by standardized clinical measures of motor function, also depend on the hemisphere that was damaged and on the severity of contralesional impairment. Methods. We recruited 48 left-hemisphere-damaged (LHD) participants, 62 right-hemisphere-damaged participants, and 54 age-matched control participants. Measures of motor function included the following: (1) Jebsen-Taylor Hand Function Test (JHFT), (2) Grooved Pegboard Test (GPT), and (3) grip strength. We measured the extent of contralesional arm impairment with the upper-extremity component of the Fugl-Meyer (UEFM) assessment of motor impairment. Results. Ipsilesional limb functional performance deficits (JHFT) varied with both the damaged hemisphere and severity of contralesional arm impairment, with the most severe deficits expressed in LHD participants with severe contralesional impairment (UEFM). GPT and grip strength varied with severity of contralesional impairment but not with hemisphere. Conclusions. Stroke survivors with the most severe paretic arm impairment, who must rely on their ipsilesional arm for performing daily activities, have the greatest motor deficit in the less-affected arm. We recommend remediation of this arm to improve functional independence in this group of stroke patients.

Brainstem and spinal cord MRI identifies altered sensorimotor pathways post-stroke.

Damage to the corticospinal tract is widely studied following unilateral subcortical stroke, whereas less is known about changes to other sensorimotor pathways. This may be due to the fact that many studies investigated morphological changes in the brain, where the majority of descending and ascending brain pathways are overlapping, and did not investigate the brainstem where they separate. Moreover, these pathways continue passing through separate regions in the spinal cord. Here, using a high-resolution structural MRI of both the brainstem and the cervical spinal cord, we were able to identify a number of microstructurally altered pathways, in addition to the corticospinal tract, post stroke. Moreover, decreases in ipsi-lesional corticospinal tract integrity and increases in contra-lesional medial reticulospinal tract integrity were correlated with motor impairment severity in individuals with stroke.

The differences in sagittal plane whole-body angular momentum during gait between patients with hemiparesis and healthy people.

Regulation of whole-body angular momentum (WBAM) is essential for maintaining dynamic balance during gait. Patients with hemiparesis frequently fall toward the anterior direction; however, whether this is due to impaired WBAM control in the sagittal plane during gait remains unknown. The present study aimed to investigate the differences in WBAM in the sagittal plane during gait between patients with hemiparesis and healthy individuals. Thirty-three chronic stroke patients with hemiparesis and twenty-two age- and gender-matched healthy controls walked along a 7-m walkway while gait data were recorded using a motion analysis system and force plates. WBAM and joint moment were calculated in the sagittal plane during each gait cycle. The range of WBAM in the sagittal plane in the second half of the paretic gait cycle was significantly larger than that in the first and second halves of the right gait cycle in the controls (P = 0.015 and P = 0.011). Furthermore, multiple regression analysis revealed the slower walking speed (P < 0.001) and larger knee extension moment on the non-paretic side (P = 0.003) contributed to the larger range of WBAM in the sagittal plane in the second half of the paretic gait cycle. Our findings suggest that dynamic stability in the sagittal plane is impaired in the second half of the paretic gait cycle. In addition, the large knee extension moment on the non-paretic side might play a role in the dynamic instability in the sagittal plane during gait in patients with hemiparesis.

Effect of Active and Passive Mechanical Thromboprophylaxis and Consensual Effect on the Venous Blood Flow Velocity Among Hemiparetic Patients.

Our aim was to measure the venous blood flow velocity (VBFV) in case of hemiparetic patients, after passive and active thromboembolic methods, as well as the consensual effect in the hemiparetic limb following the active venous exercises in the healthy limb. We examined 215 patients, with the median age of 58.0 (55.0-63.0) years. The VBFV was measured with a HADECO BIDOP ES-100 V II type Doppler ultrasound device, using an 8 MHz head, on the femoral vein at the level of the hip joint. For statistical analysis, SPSS version 22 was used. After passive movement, on the hemiparetic side, compared to the value in resting state, the VBFV significantly (12.6; 11.6-13.5 cm/s; P < .001) increased. Following active venous exercises performed on the healthy side, the VBFV significantly (18.0; 15.6-19.6 cm/s; P < .001) increased compared to the value in resting state. Following the active venous exercises performed on the healthy side, the VBFV measured on the hemiparetic side (consensual effect) was significantly (15.1 [14.1-16.5] cm/s; P < .001) higher than the value on the hemiparetic side in resting state. Active and passive mechanical thromboprophylaxis methods can be effective. Movements of the healthy limb significantly increase the VBFV in the inactive limb, and patients can perform it themselves several times a day.

Twenty-and-a-half syndrome: a case report.

BACKGROUND: In the list of named numerical neuro-ophthalmological syndromes, such as one-and-a-half syndrome and others, we report for the first time twenty-and-a-half syndrome, which is characterized by one-and-a-half syndrome with bilateral seventh and right fifth nerve palsy (1.5 + 7 + 7 + 5 = 20.5) in a patient with ischemic stroke. CASE PRESENTATION: A 45-year-old Asian Hindu woman presented with vomiting and imbalance of 1 day's duration. She had left-sided ataxic hemiparesis with one-and-a-half syndrome with bilateral seventh and right fifth nerve palsy. Magnetic resonance imaging of her brain revealed acute non-hemorrhagic infarct in the right posterolateral aspect of pons and medulla, with normal brain vessels angiography. We described her disorder as twenty-and-a-half syndrome. She was put on antiplatelet therapy. CONCLUSIONS: Twenty-and-a-half syndrome is reported for the first time. It is due to posterior circulation stroke; in our case, it was due to lacunar infarcts in the pons and medulla, manifesting as one-and-a-half syndrome with bilateral seventh and right fifth nerve palsy.