A Case Report of an Atypical Presentation of Morvan Syndrome.

Morvan syndrome, also known as Morvan's fibrillary chorea, is a rare paraneoplastic neurological syndrome presenting with central nervous system (CNS) symptoms, peripheral nerve hyperexcitability, and autonomic nervous system (ANS) manifestations. The etiology and severity of the disease are not well understood. An adult female presented with a sudden onset of chest pain, unilateral extremity weakness, blepharospasms, and muscle spasms, with positive voltage-gated potassium channel (VGKC) antibody and positive neuronal antibody (amphiphysin) in serum. Morvan syndrome can be diagnosed in patients with myokymia, positive VGKC antibody, and neuropsychiatric symptoms with a high clinical index of suspicion. This atypical presentation of Morvan syndrome in a female identifies a novel association of amphiphysin positivity in this rare disease.

Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases.

Extremely early-onset juvenile Huntington's disease (HD) has been described in three patients with onset at approximately 18 months to 2 years of age. Herein, we report a patient with, to our knowledge, the youngest age of onset with the largest reported explicit expansion size. We also summarize the previously reported cases of extremely early-onset juvenile HD. This information is important to gain insight into this phenotype for earlier diagnosis and in the hopes of future lifesaving treatments.

An Unusual Movement Disorder-Case of Diabetic Striatopathy.

Nonketotic hyperglycemia chorea-ballismus (NKH-CB), a rare metabolic syndrome, arises as a secondary condition to hyperglycemia. It is marked by acute or subacute hemichorea-hemiballismus, hyperglycemic state, and unique reversible striatal abnormalities on neuroimaging. This case presents a 70-year-old Hispanic man with a significant medical history of cerebral vascular accidents, hypertension, bipolar disease, and uncontrolled type 2 diabetes mellitus. Notably, the patient was experiencing large-amplitude involuntary movements on his left side for the past 3 weeks. With resolution of hyperglycemia, the amplitude and frequency of the involuntary arm movements were absent. This case highlights the need for careful monitoring and tight control of blood glucose levels in patients with a history of diabetes, to prevent serious neurological complications such as NKH-CB syndrome. Prompt diagnosis through neurological evaluation, blood glucose level assessment, and neuroimaging techniques are critical in managing the symptoms effectively.

Dengue and Typhoid: A Duet of Choreoathetosis.

Choreoathetoid movements can be caused by a range of conditions. Here, we discuss the case of a 16-year-old male with a history of acute febrile illness who presented with features typical of paroxysmal dystonic choreoathetosis. He arrived at the hospital complaining of a fever that had been present for four days, suggesting a viral etiology, but he did not exhibit any involuntary movements. The routine panel suggests both dengue and typhoid as potential culprits. Consequently, during the ward stay, the patient developed involuntary movements in bilateral upper limbs, lower limbs, and face. Co-infection with both dengue and typhoid is seldom seen, with an increasing number of cases in the recent few years. These situations can sometimes put the treating physician in a difficult situation with respect to management. This case is being discussed because of its rare manifestation caused by a rare co-infection.

Caffeine Use in Huntington's Disease: A Single Center Survey.

Background: Anecdotal evidence suggests paradoxical caffeine overuse in individuals with Huntington's disease (HD). A small retrospective study associated caffeine intake over 190 grams daily to earlier onset of HD symptoms. However, specific data on consumption habits is limited. This study aims to gather pilot data on caffeine use in people with HD, exploring motivations and consequences. Methods: Thirty adults with HD completed a survey on daily caffeine intake, its impact on symptoms, and consumption motivations through multiple-choice and open-ended questions. Descriptive statistics were used to analyze findings and compare them to general population data. Results: Caffeine intake ranged from 0 to 1400.4 mg/day, with a median of 273.2 mg/day and a mean of 382.5 mg/day. Seventy percent of participants with HD consumed more caffeine than the average for their age group in the general population. Additionally, 20% of participants and 38% of family members believed caffeine influenced HD symptoms, primarily anxiety. Discussion: People with HD typically consume more caffeine than the general U.S. population. Contrary to the hypothesis, higher caffeine intake was not associated with significant subjective worsening of HD symptoms. Further research with objective measures and multiple HD centers is necessary to guide screening and counseling on caffeine use in this population. Highlights: Participants with Huntington's disease (HD) had increased caffeine intake compared to the general population, supporting previous anecdotal observations. Anxiety was the most affected HD symptom. Further research using objective measures of symptom burden and including multiple HD centers can help inform screening and counseling regarding caffeine use in this population.

Exploring the Role of Deutetrabenazine in the Treatment of Chorea Linked with Huntington's Disease.

BACKGROUND: This review investigates the efficacy of deutetrabenazine in the management of chorea related to HD. Motor, psychological, and cognitive symptoms characterize HD, a neurodegenerative disease. One prominent movement disorder associated with HD is chorea, which results in uncontrollably jerky movements of the muscles. HD has no known cure; instead, symptom management with a variety of medication options is the main goal. Effective management is essential because chorea has a significant impact on patients' quality of life. Dutetrabenazine is the first deuterated medication to receive approval from the US Food and Drug Administration (FDA) for the therapeutic treatment of chorea in Huntington's disease (HD). OBJECTIVES: Treating chorea associated with HD may benefit from the use of deutetrabenazine. The novel compound deutetrabenazine contains deuterium. It inhibits CYP2D6 metabolism, prolongs the half-lives of active metabolites, and may cause persistent systemic exposure while maintaining significant pharmacological action. Deutetrabenazine decreases the release of monoamines, including dopamine, in the synaptic cleft by inhibiting the VMAT2 vesicular monoamine transporter. For chorea, this mechanism has a therapeutic effect. For the treatment of choreiform movement and tardive dyskinesia in HD, the FDA approved deutetrabenazine in 2017. CONCLUSION: Here we highlight, Deutetrabenazine as a promising new treatment for Huntington's disease chorea, for patients with chorea, deutetrabenazine offers hope for an enhanced quality of life. To completely understand its effectiveness and potential advantages, additional research is necessary, including direct comparison studies, as a result of the mixed study results.

Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series.

BACKGROUND: The Powassan virus is a rare neurotropic, tick-borne arbovirus associated with meningoencephalitis. Despite the virus's known predilection for the basal ganglia, there are no reports detailing the spectrum of movement disorders in children with Powassan meningoencephalitis. CASES: We present 3 cases of pediatric Powassan encephalitis, highlighting the diverse and evolving movement disorders associated with this disease. We observed subcortical myoclonus and progressive generalized dystonia (patient 1), transient dyskinesias and refractory focal dystonia (patient 2), and generalized dystonia evolving into chorea and lingual dyskinesias (patient 3). One patient exhibited multifocal vasculitis on magnetic resonance imaging angiography, a novel finding. CONCLUSIONS: Movement disorders were a primary source of the morbidity experienced by pediatric Powassan encephalitis patients throughout their disease course, underscoring the importance of regular monitoring and adaptable treatment strategies in this condition. Larger, prospective studies are necessary to fully delineate the spectrum of associated movement disorders in this rare and severe disease.

The known and unknown of post-pump chorea: a case report on robust steroid responsiveness implicating occult neuroinflammation.

Post-pump chorea (PPC) is characterized by the development of choreiform movements following cardiopulmonary bypass (CPB) surgery. PPC occurs almost exclusively in children, and its pathophysiology remains unclear. Here we present an adult case of PPC after bovine aortic valve replacement (AVR) which exhibited dramatic and reproducible response to steroid, suggesting the presence of occult neuroinflammation. This observation suggests a novel underlying mechanism in certain subgroups of PPC, which is likely a heterogeneous condition to start with. Further research into the pathomechanisms of PPC could offer insights into managing this otherwise symptomatic control-only condition.

The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.

XK disease is a very rare, multi-system disease, which can present with a wide spectrum of symptoms. This disorder can also be identified pre-symptomatically with the incidental detection of serological abnormalities when typing erythrocytes in peripheral blood, or on other routine laboratory testing. Increasing awareness of this disorder and improved access to genetic testing are resulting in increasing identification of affected patients and families. Here we provide updates to some previously-reported families and patients and provide additional clinical details. We also report four new cases with a variety of presentations, one of whom had a novel mutation.

Recognizing red flags for alternative diagnoses in pediatric chorea beyond Sydenham's.

BACKGROUND: Chorea is a common movement disorder in children, requiring thorough clinical assessment and appropriate tests for etiological diagnosis. Early identification of treatable conditions can lead to effective treatment, reducing morbidity and improving quality of life. OBJECTIVE: To describe the clinical, demographic, and epidemiological characteristics of children and adolescents diagnosed with chorea. METHODS: A retrospective cross-sectional study of pediatric patients treated in a fourth-level hospital in Bogotá, Colombia, from January 2008 to January 2022. RESULTS: 81 patients with chorea were found. The most frequent etiologies were rheumatic fever (50.6 %), vascular chorea (29.3 %), and chorea secondary to lupus (11.1 %). Patients with chorea secondary to rheumatic fever (Sydenham's chorea) were older compared to other etiologies, 10.36 ± 3.41 years vs 8.29 ± 5.16, p = 0.037. The presence of another movement disorder or abnormalities during the physical examination suggests a different etiology from rheumatic fever. Moreover, the presence of psychiatric symptoms was similar in all etiologies. However, a correlation between age and psychiatric symptoms was observed with an odds ratio of 1.14 95 % CI 1.02-1.29 per year. CONCLUSIONS: Red flags in Sydenham's chorea suggesting an alternate etiology are younger age, the presence of other abnormal movements or other findings in the neurological exam or in the magnetic resonance imaging. No significant statistical differences were found between the etiologies with the presence of neuro-psychiatric manifestations. Nevertheless, these manifestations are very frequent in abnormal movements. This study evidenced the positive correlation between age and the presence of psychiatric symptoms.

Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experience.

Sydenham's chorea (SC), an autoimmune disorder affecting the central nervous system, is a pivotal diagnostic criterion for acute rheumatic fever. Primarily prevalent in childhood, especially in developing countries, SC manifests with involuntary movements and neuropsychiatric symptoms. Predominantly occurring between ages 5 and 15, with a female bias, SC may recur, particularly during pregnancy or estrogen use. The autoimmune response affecting the basal ganglia, notably against dopamine, underlies the pathophysiology. Clinical management necessitates an integrated approach, potentially involving immunomodulatory therapies. To address discrepancies in SC management, a survey was conducted across Italy, targeting specialists in neurology, pediatrics, child neuropsychiatry, and rheumatology. Of the 51 responding physicians, consensus favored hospitalization for suspected SC, with broad support for laboratory tests and brain MRI. Treatment preferences showed agreement on oral prednisone and IVIG, while opinions varied on duration and plasmapheresis. Haloperidol emerged as the preferred symptomatic therapy. Post-SC penicillin prophylaxis and steroid therapy gained strong support, although opinions differed on duration. Follow-up recommendations included neuropsychological and cardiological assessments. Despite offering valuable insights, broader and more studies are needed in order to guide treatment decisions in this well-known yet challenging complication of acute rheumatic fever, which continues to warrant scientific attention and concerted clinical efforts.

Pediatric Post-Pump Chorea: Case Report and Implications for Differential Diagnosis.

BACKGROUND: Chorea is a neurological disorder characterized by random, fluid movements that may affect the limbs, trunk, neck, or face. In children, Sydenham's chorea (SC) is the most common cause of acute chorea, mainly following group A beta-hemolytic streptococcal (GABHS) infection. Other autoimmune and metabolic disorders may also cause chorea. CASE PRESENTATION: We report the case of a 6-year-old girl who developed chorea following cardiac surgery for mitral insufficiency. One week after discharge, the patient presented with right-sided hyposthenia, slower speech, mild dysarthria, and sialorrhea. Brain MRI and intracranial MRI angiography revealed a small vascular lesion consistent with a microembolic event. Extensive diagnostic investigations, including serum panels for autoimmune encephalitis, neurotropic viruses, and metabolic disorders, were negative. CONCLUSIONS: Considering the patient's history, clinical course, and the exclusion of other potential causes, a diagnosis of post-pump chorea was made. This case underlines the importance of a thorough differential diagnosis in pediatric chorea and highlights post-pump chorea as a significant postoperative complication in pediatric cardiac surgery. The patient's motor symptoms improved with symptomatic treatment, and follow-up showed good recovery without neurological sequelae.

Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.

BACKGROUND: McLeod syndrome (MLS) and chorea-acanthocytosis (ChAc) are exceedingly rare diseases characterized by a variety of movement disorders including chorea, dystonia, and Parkinsonism. Genetic analysis plays a key role in early and accurate diagnosis, but relevant variants are still under investigation. This study aims to explore new pathogenic variants in Chinese patients with MLS and ChAc and to conduct a comprehensive analysis of the clinical heterogeneity among these patients. METHODS: Eighteen Chinese patients who presented with choreatic movements with negative HTT genetic testing were identified and underwent targeted next-generation sequencing, verified by Sanger sequencing. RESULTS: Two novel XK variants (c.970A>T, c.422_423del) were identified in three index MLS patients and six novel VPS13A variants (c.9219C>A, c.3467T>A, c.4208dup, c.9243_9246del, c.5364del, c.556-290_697-483del) in five index ChAc patients. One copy number variant of VPS13A (g.79827595_79828762del/c.556-290_697-483del) was firstly described in Chinese population. CONCLUSION: As the currently largest descriptive study of MLS and ChAc patients in China, this study expands on the clinical and genetic spectrum of XK and VPS13A, contributing to the clinical diagnosis of MLS and ChAc.

A Challenging Diagnosis of Huntington's Disease With Mild Clinical Features: Case Report.

Huntington's disease (HD) is an inherited neurodegenerative disease characterized by neuropsychiatric symptoms including chorea, dementia, and depression. It is inherited in an autosomal dominant fashion and exhibits anticipation leading to earlier and more severe symptoms in the affected offspring of a patient. With a much lower prevalence in Asia than in Europe and other parts of the world, its diagnosis can be missed easily in the early stages due to mildness of the symptoms and significant overlap between its symptoms and those of other diseases. We present the case of a 38-year-old male of Pashtun ethnicity presenting with mild cognitive impairment and clumsiness who was eventually diagnosed with HD, but his mild clinical features, no documented history of HD in his parents, and his relatively young age coupled with the relatively low prevalence of HD in his geographical location presented a significant challenge in our diagnosis of his condition. This case underscores the importance of keeping a high clinical suspicion for HD in patients with chorea despite a negative parental history, especially in resource-limited areas where the parents may have gone undiagnosed and highlights the need for further research on HD's prevalence in different parts of the world as well as the barriers to its diagnosis.

Antiphospholipid syndrome in children.

Antiphospholipid syndrome (APS) in children is a rare disease associated with significant morbidity and mortality. In comparison with APS in adults, pediatric APS has a more severe presentation with frequent recurrences of thrombotic events and a higher probability of life-threatening catastrophic APS. Nonthrombotic manifestations are also more common in the pediatric age group and can precede thrombosis. New classification criteria have been introduced recently and have not yet been assessed in pediatric patients with APS. In addition to anticoagulation drugs, other novel therapies have emerged including the use of B cell and complement inhibitors, especially in catastrophic APS. The purpose of this review is to provide a broad overview of aPL-related clinical manifestations in pediatric patients based on the analysis of published cohorts and data from the international pediatric APS registry. We also aim to illustrate APS in infants caused by transplacentally transferred maternal aPL, which is very rarely associated with acute thrombotic events in the perinatal period and more frequently with long-term neurodevelopmental abnormalities.

Diabetic striatopathy: Hyperglycemic chorea/ballism successfully treated with L-dopa.

Diabetic striatopathy, a rare hyperglycemia complication, is characterized by chorea/ballism and striatal anomalies on neuroimaging, usually managed with glycemic control and haloperidol. However, practical strategies for haloperidol-resistant cases are scarce. We describe a 76-year-old Japanese woman with diabetic striatopathy who initially presented with polydipsia, polyuria, and lower-extremity weakness. Despite pronounced hyperglycemia (725 mg/dL), her blood glucose levels were reduced through saline infusion and intravenous insulin. Subsequently, she developed whole-body ballism concomitant with striatal hyperintensity on T1-weighted magnetic resonance imaging, which initially responded to haloperidol. Upon discontinuation of haloperidol, her symptoms relapsed and did not improve with the reintroduction of haloperidol. Dopamine transporter single photon emission computed tomography revealed diminished bilateral striatal uptake, suggesting presynaptic dopaminergic dysfunction. This finding prompted the initiation of L-dopa, which significantly improved her symptoms. This case underlines the need to consider presynaptic dopaminergic dysfunction in diabetic striatopathy patients unresponsive to standard treatments, highlighting the effectiveness of L-dopa in such scenarios.

Sydenham's Chorea in Children with Acute Rheumatic Fever: An Echocardiographic Survey of Pediatric Patients in Northwestern Iran.

Background: Although infrequent, Sydenham's chorea (SC) may occur as a result of injury to the basal ganglia in children with acute rheumatic fever (ARF) secondary to group A Streptococcal infection. Certain hallmarks of SC, such as movement disorders, could be utilized as a predictive marker for carditis. The present study aimed to investigate neurologic and cardiologic symptoms in children with suspected SC after ARF. Methods: All children aged 5-16 who were admitted at Shahid Madani Pediatric Hospital (Tabriz, Iran), with an initial diagnosis of ARF and SC between 2009 and 2022 were included for echocardiographic assessment and prospective follow-up within 6 and 12 months after the start point. The pattern and severity of valvulopathy, as well as the prevalence of Jones criteria for rheumatic fever, were used to assess the effect. The collected data were analyzed using SPSS Statistics software (version 22.0) using Chi square and Fisher's exact tests. P<0.05 was considered statistically significant. Results: The study enrolled 85 children, 36 girls and 49 boys, with a mean age of 9.7±2.7. On the first echocardiography, 42.4% of patients had mitral valve regurgitation (MR), with a predominance of female patients (P=0.04). Of those diagnosed with SC (12 girls and 6 boys), 66.7% showed cardiac involvement, with a higher prevalence of MR in both sexes (P=0.04). The pattern of cardiac involvement after 6 months was significantly different between the groups (P=0.04). However, no such difference was observed during the one-year follow-up (P=0.07). Female sex was found to have a significant relationship with SC localization (P=0.01). Conclusion: In addition to its neurological manifestations, SC can be associated with clinical or subclinical cardiac valve dysfunction that might last for more than a year. In addition to attempting early detection and appropriate management, a precise cardiac and neurologic assessment during admission and follow-up is recommended.A preprint version of this manuscript is available at DOI: 10.21203/rs.3.rs-772662/v1 (https://www.researchsquare.com/article/rs-772662/v1).

A case of chorea-acanthocytosis with significant improvement of symptoms at one year with deep brain stimulation: case report and literature review.

Chorea-acanthocytosis (ChAc) is a rare, neurodegenerative disorder caused by mutations in the VPS13A gene. In this article, we report on a 32-year-old man diagnosed with ChAc, with involuntary movements of the mouth and trunk, drooling of the mouth, slurred speech, and abnormal vocalizations as the main clinical manifestations. Three weeks after implantation of globus pallidus internal (GPi)-deep brain stimulation (DBS), the patient's symptoms improved significantly. For example, articulation is clear, involuntary trunk movements and salivation have largely disappeared, and abnormal vocalizations have been significantly reduced. After 1 year of follow-up, the improvement in involuntary movement symptoms is essentially the same as before. As far as we know, we are the first to report the relief of involuntary vocalizations in a patient with GPi-DBS treatment, and that salivation and involuntary trunk movements have almost disappeared, and all other symptoms are significantly relieved, which is rare in previous cases. All of the above proves that the treatment of our case with DBS was very successful and that longer term follow-up is critical. We also hope that our case will provide new references and therapeutic ideas for the future treatment of patients with ChAc.