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Cureus Mar 2023Emergency departments (EDs) of hospitals accredited for trauma and/or comprehensive stroke care treat a large volume of high-acuity patients. In this fast-paced...
Emergency departments (EDs) of hospitals accredited for trauma and/or comprehensive stroke care treat a large volume of high-acuity patients. In this fast-paced environment, the primary focus is appropriate triage, rapid stabilization, diagnosis, and acute intervention for life-threatening conditions such as cerebral vascular accident (CVA). However, this approach may result in subtle or atypical neurologic signs and symptoms being overlooked. Often, these oversights are innocuous in terms of their influence on overall patient outcomes. They are, in the vernacular, "of academic interest only" These cases provide ED clinicians with a unique opportunity to witness signs and symptoms not classically associated with common neurologic maladies. These unusual manifestations may be fleeting as they often either resolve with intervention or are overshadowed by progressive clinical decline. If such findings are recognized, they can at a minimum provide fascinating insights into neuroanatomic function. At a maximum, early recognition can influence immediate treatments and long-term outcomes. We report three ED patient presentations that shed light on functional neuroanatomical pathways and, in one case, significantly affected a patient's immediate algorithmic care. Two such cases involved acute middle cerebral artery distribution ischemic strokes, which typically present with focal contralateral sensorimotor and potential language deficits. Such events less commonly initially present with involuntary motor movements (dyskinesias). Failure to recognize these less common ictal signs may delay appropriate ED intervention or yield etiologic misdiagnoses. A third case involved a loss of consciousness ictal event secondary to a frontotemporal lobe tumor. This case presented with aphasic stroke-like symptoms along with new acute orofacial dyskinesias. Imaging before and after medical, surgical, and endovascular intervention provided important clinico-anatomic lessons. Furthermore, proposed neurophysiologic mechanisms and review of pertinent literature are provided.
PubMed: 37038583
DOI: 10.7759/cureus.35924 -
British Journal of Neurosurgery 2015Spasticity represents a common and very often incapacitating neurologic condition, for which a limited number of treatment options are available. Stereotactic ablation...
Spasticity represents a common and very often incapacitating neurologic condition, for which a limited number of treatment options are available. Stereotactic ablation of the dentate cerebellar nuclei (dentatotomy) was widely used in the past with variable results. In the present study, we reviewed 12 consecutive cases operated on at the Midland Centre for Neurosurgery and Neurology at Birmingham University (Smetwick, UK) in the 1980s. The following clinical aspects were analyzed: severity of spasticity, occurrence of abnormal movements (dystonia/athetosis), language fluency, gait, and overall clinical condition. Follow-up ranged from 0.5 to 94 (mean: 31.6) months. Immediate improvement was noted in 10 patients, and five of them had sustained this improvement at the time of the last assessment. A more pronounced improvement was observed for gait, relative to speech and abnormal movements. No significant morbidity related to the procedure was observed. We conclude that dentatotomy is a safe procedure that should still be considered in specific cases. Here, we review the cases reported in the literature, and present a mechanistic hypothesis about how dentatotomy influences motor tonus, in light of the current knowledge about cerebellar physiology. We believe that this issue is critical for the development of alternative surgical approaches targeting the cerebellum, such as chronic electric stimulation.
Topics: Adolescent; Adult; Cerebellar Nuclei; Child; Dystonia; Female; Follow-Up Studies; Functional Laterality; Humans; Male; Muscle Spasticity; Neurosurgical Procedures; Paraparesis, Spastic; Paresis; Stereotaxic Techniques; Treatment Outcome; Young Adult
PubMed: 25825325
DOI: 10.3109/02688697.2015.1025697 -
Assistive Technology : the Official... 2015Prior work has highlighted the challenges faced by people with athetosis when trying to acquire on-screen targets using a mouse or trackball. The difficulty of...
Prior work has highlighted the challenges faced by people with athetosis when trying to acquire on-screen targets using a mouse or trackball. The difficulty of positioning the mouse cursor within a confined area has been identified as a challenging task. We have developed a target acquisition assistance algorithm that features transition assistance via directional gain variation based on target prediction, settling assistance via gain reduction in the vicinity of a predicted target, and expansion of the predicted target as the cursor approaches it. We evaluated the algorithm on improving target acquisition efficiency among seven participants with athetoid cerebral palsy. Our results showed that the algorithm significantly reduced the overall movement time by about 20%. Considering the target acquisition occurs countless times in the course of regular computer use, the accumulative effect of such improvements can be significant for improving the efficiency of computer interaction among people with athetosis.
Topics: Algorithms; Athetosis; Computer Peripherals; Female; Humans; Male; Middle Aged; Software; Task Performance and Analysis; Word Processing
PubMed: 26132226
DOI: 10.1080/10400435.2014.984260 -
Pediatrics Dec 2014To compare the patterns of motor type and gross motor functional severity in preschool-aged children with cerebral palsy (CP) in Bangladesh and Australia. (Comparative Study)
Comparative Study
OBJECTIVES
To compare the patterns of motor type and gross motor functional severity in preschool-aged children with cerebral palsy (CP) in Bangladesh and Australia.
METHODS
We used comparison of 2 prospective studies. A total of 300 children with CP were aged 18 to 36 months, 219 Australian children (mean age, 26.6 months; 141 males) recruited through tertiary and community services, and 81 clinic-attendees born in Bangladesh (mean age, 27.5 months; 50 males). All children had diagnosis confirmed by an Australian physician, and birth and developmental history collected on the Physician Checklist. All children were classified by the same raters between countries using the Gross Motor Function Classification System (GMFCS), and motor type and distribution.
RESULTS
There were more children from GMFCS I-II in the Australian sample (GMFCS I, P < .01; III, P < .01; V, P = .03). The patterns of motor type also differed significantly with more spasticity and less dyskinetic types in the Australian sample (spasticity, P < .01; dystonia, P < .01; athetosis, P < .01). Birth risk factors were more common in the Bangladesh sample, with risk factors of low Apgar scores (Australia, P < .01), lethargy/seizures (Australia, P = .01), and term birth (Bangladesh, P = .03) associated with poorer gross motor function. Cognitive impairments were significantly more common in the Bangladesh children (P < .01), and visual impairments more common in Australia (P < .01).
CONCLUSIONS
Patterns of functional severity, motor type, comorbidities, etiology, and environmental risk factors differed markedly between settings. Our results contribute to understanding the patterns of CP in low-resource settings, and may assist in optimizing service delivery and prioritizing appropriate early interventions for children with CP in these settings.
Topics: Bangladesh; Cerebral Palsy; Child, Preschool; Cohort Studies; Cross-Cultural Comparison; Cross-Sectional Studies; Developing Countries; Disability Evaluation; Female; Health Resources; Humans; Infant; Male; Mobility Limitation; Patient Admission; Prospective Studies; Queensland; Risk Factors
PubMed: 25422013
DOI: 10.1542/peds.2014-1926 -
Respiratory Medicine Aug 2017We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated with chronic lung... (Clinical Trial)
Clinical Trial
We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated with chronic lung disease. Twelve different NKX2-1 mutations, including 4 novel mutations, were identified in the 16 patients. Nine patients presented with brain-lung-thyroid syndrome, 3 had neurological and lung symptoms and 4 had only pulmonary symptoms. Ten patients had neonatal respiratory distress, and 6 of them developed infiltrative lung disease (ILD). The other patients were diagnosed with ILD in childhood (n = 3) or in adulthood (n = 3). The median age at diagnosis was 36 months (IQ 3.5-95). Patient testing included HRCT (n = 13), BALF analysis (n = 6), lung biopsies (n = 3) and lung function tests (n = 6). Six patients required supplemental oxygen support with a median duration of 18 months (IQ 2.5-29). All symptomatic ILD patients (n = 12) benefited from a treatment consisting of steroids, azithromycin (n = 9), and/or hydroxychloroquine (n = 4). The median follow-up was 36 months (IQ 24-71.5). One patient died of respiratory failure at 18 months and another is waiting for lung transplantation. In summary, the initial diagnosis was based on clinical presentation and radiological features, but the presentation was heterogeneous. Definitive diagnosis required genetic analysis, which should be performed, even in absence of neurological or thyroid symptoms.
Topics: Adolescent; Adult; Athetosis; Bronchoalveolar Lavage Fluid; Child; Chorea; Congenital Hypothyroidism; Female; France; Genes, Homeobox; Humans; Lung Diseases; Lung Diseases, Interstitial; Male; Mutation; Prognosis; Pulmonary Alveolar Proteinosis; Pulmonary Surfactant-Associated Protein B; Pulmonary Surfactants; Respiratory Distress Syndrome, Newborn; Respiratory Function Tests; Retrospective Studies; Thyroid Nuclear Factor 1; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 28732825
DOI: 10.1016/j.rmed.2017.05.014 -
BMJ Case Reports Mar 2021Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the...
Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagnoses must be maintained when the patient's presentation is out of keeping with expected manifestations and course. We present a case of a neonate with ASL deficiency and concomitant hypotonia, severe respiratory distress, pulmonary hypertension, systemic hypotension and congenital hypothyroidism. The patient was investigated and subsequently diagnosed with brain-lung-thyroid syndrome, caused by a mutation in the NKX2-1 gene.
Topics: Argininosuccinic Aciduria; Athetosis; Chorea; Congenital Hypothyroidism; Humans; Infant, Newborn; Respiratory Distress Syndrome, Newborn
PubMed: 33789861
DOI: 10.1136/bcr-2020-241032 -
Zhongguo Dang Dai Er Ke Za Zhi =... Nov 2017The clinical manifestations of five children with paroxysmal kinesigenic dyskinesia (PKD) were retrospectively analyzed and their gene mutations were analyzed by...
The clinical manifestations of five children with paroxysmal kinesigenic dyskinesia (PKD) were retrospectively analyzed and their gene mutations were analyzed by high-throughput sequencing and chromosome microarray. The 5 patients consisted of 4 males and 1 female and the age of onset was 6-9 years. Dyskinesia was induced by sudden turn movement, scare, mental stress, or other factors. These patients were conscious and had abnormal posture of unilateral or bilateral extremities, athetosis, facial muscle twitching, and abnormal body posture. The frequency of onset ranged from 3-5 times a month to 2-7 times a day, with a duration of <30 seconds every time. Electroencephalography showed no abnormality in these patients. Three patients had a family history of similar disease. The high-throughput sequencing results showed that a heterozygous mutation in the PRRT2 gene, c.649_650insC (p.R217PfsX8), was found in two patients; the mutation c.436C>T (p.P146S) was found in one patient; a splice site mutation, IVS2-1G>A, was found in one patient. The two mutations c.436C>T and IVS2-1G>A had not been reported previously. The chromosome microarray analysis was performed in one patient with negative results of gene detection, and the chromosome 16p11.2 deletion (0.55 Mb) was observed. Low-dose carbamazepine was effective for treatment of the 5 patients. PKD is a rare neurological disease. The detection of the PRRT2 gene by multiple genetic analysis can help the early diagnosis of PKD.
Topics: Carbamazepine; Child; Chromosome Deletion; Chromosomes, Human, Pair 16; Dystonia; Electroencephalography; Female; Humans; Male; Membrane Proteins; Mutation; Nerve Tissue Proteins
PubMed: 29132464
DOI: 10.7499/j.issn.1008-8830.2017.11.009 -
International Journal of Sports... Sep 2021The objectives of this study were to analyze whether there were differences among para-footballers with different types and degrees of brain impairment (ie, bilateral...
PURPOSE
The objectives of this study were to analyze whether there were differences among para-footballers with different types and degrees of brain impairment (ie, bilateral spasticity, athetosis/ataxia, unilateral spasticity, minimum impairment criteria, or no impairment) in performing 3 football-specific tests requiring ball dribbling, to analyze whether there was an association among the results obtained in the 3 tests, and to determine whether the performance in the tests was associated with competitive level, level of training, or years' experience in para-footballers with cerebral palsy (CP).
METHODS
A total of 123 footballers took part in the study, 87 of whom were footballers with CP and 36 who were without impairment. Both groups were assessed in 3 football-specific tests (Stop and Go, Turning and Dribbling, and the Illinois Agility Test).
RESULTS
The results showed that the footballers without impairment recorded a better performance in all tests (P < .01) in comparison with the CP players. No significant differences in test performance were observed among the CP players from different competitive levels. However, significant differences (P < .01) were observed between players with diplegia or athetosis/ataxia compared with players with hemiplegia or minimum impairment level. Performance in the tests did not correlate with years of football experience, weekly strength training sessions, or specific football training in the footballers with CP (P = .12-.95).
CONCLUSIONS
These findings suggest the possible inclusion of these tests in the classification process for footballers with CP because they discriminate among functional classes and are resistant to training and competitive level.
Topics: Humans; Athletic Performance; Cerebral Palsy; Environment; Soccer
PubMed: 33662930
DOI: 10.1123/ijspp.2020-0370 -
Tremor and Other Hyperkinetic Movements... 2018Primary Sjögren syndrome (pSS) is an autoimmune disorder characterized by exocrine gland and extraglandular symptoms. We present a case report of pSS with an initial...
BACKGROUND
Primary Sjögren syndrome (pSS) is an autoimmune disorder characterized by exocrine gland and extraglandular symptoms. We present a case report of pSS with an initial presentation of athetoid movements.
CASE REPORT
A 74-year-old female presented with a 2-month history of slow undulating movements in her trunk and thighs that eventually spread to her neck and lower extremities. She also reported dry eyes, dry mouth, as well as pain in her shoulders and thighs. Her proinflammatory markers and rheumatologic profile were positive. Her salivary gland biopsy revealed a Focus score > 2. Brain magnetic resonance imaging was normal. A diagnosis of pSS was made. The patient's symptoms improved with hydroxychloroquine, pilocarpine, gabapentin, and clonazepam.
DISCUSSION
Clinicians should consider and screen for primary autoimmune disorders as a cause of subacute athetoid movements in elderly patients. Although aggressive treatment has been recommended, treatment should be tailored to each patient's specific needs.
Topics: Aged; Amines; Anticonvulsants; Athetosis; Cyclohexanecarboxylic Acids; Female; Gabapentin; Humans; Hydroxychloroquine; Movement Disorders; Muscarinic Agonists; Pilocarpine; Sjogren's Syndrome; gamma-Aminobutyric Acid
PubMed: 30191088
DOI: 10.7916/D8HQ5GHB -
Pediatric Radiology Jun 2019The expression of the NKX2-1 gene and its encoded protein, thyroid transcription factor 1 (TTF-1), plays a role in pulmonary surfactant homeostasis and lung development....
BACKGROUND
The expression of the NKX2-1 gene and its encoded protein, thyroid transcription factor 1 (TTF-1), plays a role in pulmonary surfactant homeostasis and lung development. NKX2-1 mutations have been associated with neonatal respiratory distress, hypotonia, choreoathetosis and congenital hypothyroidism. These clinical findings have been coined brain-lung-thyroid syndrome, although not all three organs are always involved. While many of these children develop interstitial lung disease, no systematic review of chest high-resolution CT (HRCT) findings has been reported.
OBJECTIVE
To summarize the clinical presentations, pathology and HRCT imaging findings of children with NKX2-1 mutations.
MATERIALS AND METHODS
We identified six children with NKX2-1 mutations, deletions or duplications confirmed via genetic testing at our institution. Three pediatric radiologists reviewed the children's HRCT imaging findings and ranked the dominant findings in order of prevalence via consensus. We then correlated the imaging findings with histopathology and clinical course.
RESULTS
All children in the study were heterozygous for NKX2-1 mutations, deletions or duplications. Ground-glass opacities were the most common imaging feature, present in all but one child. Consolidation was also a prevalent finding in 4/6 of the children. Architectural distortion was less common.
CONCLUSION
HRCT findings of TTF-1 deficiency are heterogeneous and evolve over time. There is significant overlap between the HRCT findings of TTF-1 deficiency, other surfactant dysfunction mutations, and pulmonary interstitial glycogenosis. TTF-1 deficiency should be considered in term infants presenting with interstitial lung disease, especially if hypotonia or hypothyroidism is present.
Topics: Athetosis; Chorea; Congenital Hypothyroidism; Female; Humans; Infant; Infant, Newborn; Lung Diseases, Interstitial; Male; Mutation; Respiratory Distress Syndrome, Newborn; Thyroid Nuclear Factor 1; Tomography, X-Ray Computed
PubMed: 30927038
DOI: 10.1007/s00247-019-04388-3