Diagnosis of Amantadine Intoxication Presenting Disturbed Consciousness and Myoclonus by Interprofessional Collaboration / 日本プライマリ・ケア連合学会誌

We report a case with disturbed consciousness and myoclonus, diagnosed as amantadine intoxication. Amantadine is widely used in the treatment of Parkinson's syndrome. However, in elderly patients and those with renal dysfunction, amantadine overdose is a rare complication, resulting in symptoms of intoxication such as impaired consciousness and myoclonus. In the present case, multiple amantadines prescribed by several medical institutions may have resulted in the observed intoxication. Our pharmacists and nurses checked the medications and found duplicate amantadine prescriptions.

Adult-onset idiopathic opsoclonus-myoclonus syndrome / Síndrome de opsoclonia-mioclonia idiopática de início adulto

ABSTRACT Purpose: Opsoclonus-myoclonus syndrome is extremely uncommon in adults with an autoimmune pathophysiology. Because of the rarity of the syndrome, international recognition of opsoclonus-myoclonus-ataxia syndrome needs to be improved urgently. Therefore, the goal of this study was to raise the awareness of the opsoclonus-myoclonus-ataxia syndrome and help doctors in better diagnosing and using immunotherapy. Methods: We present a case study of an adult-onset case of idiopathic opsoclonus-myoclonus syndrome characterized by spontaneous arrhythmic multidirectional conjugate eye movements, myoclonus, ataxia, sleep disorders, and intense fear. Additionally, we conduct a literature search and summarize the pathophysiology, clinical presentation, diagnosis, and treatment of opsoclonus-myoclonus-ataxia syndrome. Results: Immunotherapies successfully treated the patient's opsoclonus, myoclonus, and ataxia. Further, the article also includes an update summary of the opsoclonus-myoclonus-ataxia syndrome. Conclusion: The prevalence of residual sequela in adults with opsoclonus-myoclonus-ataxia syndrome is low. Early diagnosis and treatment may result in a better prognosis. Furthermore, combined immunotherapy is expected to reduce the incidence of refractory and reoccurring opsoclonus-myoclonus-ataxia syndrome.

RESUMO Objetivo: A síndrome de opsoclonia-mioclonia é extremamente rara em adultos e tem uma fisiopatologia autoimune. Devido à raridade dessa síndrome, o reconhecimento da síndrome de opsoclonia-mioclonia-ataxia precisa melhorar urgentemente em todo o mundo. Assim sendo, este estudo visou aumentar a conscientização sobre a síndrome de opsoclonia-mioclonia-ataxia e ajudar os médicos para um melhor diagnóstico e o uso correto da imunoterapia. Métodos: Este é o relato de um caso adulto de síndrome de opsoclonia-mioclonia idiopática com movimentos oculares conjugados, multidirecionais, arrítmicos e espontâneos, mioclonia, ataxia, distúrbios do sono e medo intenso. Além disso, foram pesquisadas as publicações recentes relevantes e resumiu-se a fisiopatologia, a apresentação clínica, o diagnóstico e o tratamento da síndrome de opsoclonia-mioclonia-ataxia. Resultados: A paciente recuperou-se totalmente da opsoclonia, da mioclonia e da ataxia através de imunoterapia. O artigo também fornece um resumo atualizado sobre a síndrome de opsoclonia-mioclonia-ataxia. Conclusão: Adultos com síndrome de opsoclonia-mioclonia-ataxia têm uma baixa frequência de sequelas residuais. O diagnóstico e o tratamento precoces podem levar a melhores prognósticos. Espera-se que a imunoterapia combinada reduza a incidência da síndrome de opsoclonia-mioclonia-ataxia refratária e recorrente.

A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings / Uma nova mutação pontual levando à sialidose tipo 1 - síndrome mioclônica e seus achados na tomografia de coerência óptica

ABSTRACT This report presents the optical coherence tomography findings and a new NEU1 mutation in bilateral macular cherry-red spot syndrome associated with sialidosis type 1. A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical coherence tomography revealed increased hyperreflectivity in the retinal inner layers and the photoreceptor layer in the foveal region. The genetic analysis detected a new NEU1 mutation, which caused type I sialidosis. In cases with a macular cherry-red spot, sialidosis should be included in the differential diagnosis, and NEU1 mutation should be screened. Spectral-domain optical coherence tomography alone is not sufficient in the differential diagnosis because childhood metabolic diseases may exhibit similar signs.

RESUMO Neste artigo, objetivamos apresentar os achados da tomografia de coerência óptica em uma nova mutação detectada no gene NEU1 em um caso de síndrome macular vermelho-cereja bilateral associada à sialidose tipo 1. Um paciente de 19 anos com um achado de mancha macular vermelho-cereja foi submetido a análises metabólicas e genéticas, apoiadas por imagens de tomografia de coerência óptica de domínio espectral (SD-OCT). Ao exame de fundo de olho, foi observada uma mancha macular vermelho-cereja bilateral. Nas imagens de SD-OCT, observou-se hiper-refletividade nas camadas internas da retina e na camada fotorreceptora na região foveal. Foi realizada uma análise genética e uma nova mutação foi detectada no gene NEU1, resultando em sialidose tipo 1. Nos casos em que é detectada uma mancha vermelho-cereja na mácula, o diagnóstico diferencial de sialidose deve ser feito e mutações do gene NEU1 devem ser rastreadas. A SD-OCT por si só não é suficiente para o diagnóstico diferencial, porque achados de aparência semelhante podem se manifestar em casos de doenças metabólicas da infância.

Mioclonías positivas y negativas en paciente con enfermedad renal crónica / Positive and negative myoclonus in a patient with end stage renal disease

Introducción: Las mioclonías son contracciones musculares paroxísticas de corta duración o pérdida abrupta del tono muscular, denominadas mioclonías positivas y negativas, respectivamente. Se presenta un caso clínico de mioclonías positivas y negativas generalizadas y se pretende describir los múltiples mecanismos fisiopatológicos y etiologías que lo desencadenan. Presentación del caso: Hombre de 35 años, con diabetes mellitus tipo 1 complicada con enfermedad renal diabética en hemodiálisis, desarrolló una bacteriemia asociada a catéter por Staphylococcus aureus y presentó mioclonías positivas y negativas. Se identificaron como posibles desencadenantes la uremia, la infección y los fármacos con potencial promioclónico; el hallazgo incidental de una lesión isquémica en núcleo caudado no explicaba la semiología encontrada en el paciente. Se hizo el control y retiro de todos los factores promioclónicos enunciados, junto a manejo farmacológico con levetiracetam, y con ello se logró el control de los síntomas. Discusión: Los pacientes con enfermedad renal crónica son susceptibles a la acumulación de productos tóxicos de tipo guanidinas, que tienen potencial para producir mioclonías. Además, las infecciones, el uso de fármacos con potencial promioclónico y lesiones estructurales como las isquemias corticales son etiologías que deben considerarse en el diagnóstico diferencial. El mayor impacto en los síntomas se observa con el control del factor desencadenante, y, en caso de persistir, la terapia farmacológica proporciona buenos resultados. Conclusión: Las mioclonías son trastornos del movimiento relativamente comunes en la enfermedad renal crónica. La identificación del desencadenante es crucial para su manejo junto al uso de fármacos con actividad antimioclónica.

Introduction: Myoclonus are paroxysmal muscle contractions of short duration or abrupt loss of muscle tone, called positive and negative myoclonus respectively. A clinical case of generalized positive and negative myoclonus is presented and the aim is to describe the multiple pathophysiological mechanisms and etiologies that trigger it. Case presentation: A 35-year-old man with type 1 diabetes mellitus complicated by diabetic kidney disease on hemodialysis developed catheter-associated bacteremia due to Staphylococcus aureus and presented positive and negative myoclonus. Uremia, infection, and drugs with pro-myoclonic potential were identified as possible triggers; The incidental finding of an ischemic lesion in the caudate nucleus did not explain the semiology found in the patient. The control and removal of all the pro-myoclonic factors mentioned was carried out, along with pharmacological management with levetiracetam, thus achieving control of the symptoms. Discussion: Patients with chronic kidney disease are susceptible to the accumulation of guanidine-type toxic products, which have the potential to produce myoclonus. Furthermore, infections, the use of drugs with pro-myoclonic potential and structural lesions such as cortical ischemia are etiologies that should be considered in the differential diagnosis. The greatest impact on symptoms is observed with the control of the triggering factor and if it persists, pharmacological therapy provides good results. Conclusion: Myoclonus are relatively common movement disorders in chronic kidney disease. Identification of the trigger is crucial for its management along with the use of drugs with anti-myoclonic activity.

Dancing Feet Syndrome in Diabetes : Para-ballism and Para-chorea in a Diabetic Patient with Diaphragmatic Myoclonus

While movement disorders in Diabetes have long been recognized,the terminology of diabetic striatopathy is relatively more recent. Herein,we report a rare case of diabetic striatopathy in a 62-year-old woman with uncontrolled Type 2 Diabetes Mellitus who presented with Para-ballismus and Para-chorea along with diaphragmatic Myoclonus, a constellation of rarely reported before simultaneously in a hyperglycemic state.While these movement phenomena are extremely rare, the case also highlights they may persist even after acute control of hyperglycaemia, emphasizing on the need for achieving long term Glycemic control for its management

Clinical analysis of adult oculomoclonus-myoclonus syndrome with vertigo / 中华内科杂志

The clinical manifestation, physical and laboratory examination, electrophysiological, and imaging data of 2 female adult OMS patients with vertigo were analyzed at the Department of Neurology of the First Medical Center of Chinese PLA General Hospital from February 2021 to March 2022. The treatment strategy and clinical outcome were followed up. The two female patients were aged 42 and 66 years. Anti-NMDA receptor antibody and anti-GABAB receptor antibody were detected in serological screening, respectively. The two patients met the diagnostic criteria for OMS, and one was screened for breast tumor. The clinical symptoms of the two patients were relieved after immunomodulation therapy. OMS is a group of rare clinical syndromes; its clinical evaluation process should be standardized and the etiology should be actively searched for.

Clinical features and genetic characteristic of SLC6A1-related neurodevelopmental disorders / 中风与神经疾病杂志

@#Objective To explore the clinical features and genetic characteristics of epilepsy and neurodevelopmental disorders caused by SLC6A1 gene mutation. Methods The clinical data of a patient with SLC6A1 gene mutation from Tongji Hospital,HuaZhong University of Science and Technology was collected. The related literatures were reviewed to summarize the characteristics of SLC6A1 gene mutation and the clinical phenotype. Results A 2 years and 6 months old girl was enrolled in the study.Her first attack happened at the age of 20 months and leg shaking,standing instability and wrestling accompanied by frequent blinking were observed. Cognitive development was impaired,especially the language. Electroencephalography (EEG) was abnormal with slow background rhythm and extensive high amplitude slow wave spike slow wave during the sleep and awake period. Brain MRI scan showed bilateral frontal lobe speckled lesions with high intensity on T2 Flair sequence. Gesell assessment scale showed development quotient 64,and development age 21 months. Children autism assessment scale suggested that there was no obvious autism performance. Whole exome-sequencing study identified a heterozygous variant of c. 889G>A (p. Gly297Arg) in SLC6A1 gene. Both her mother and grandmother of the child carried this mutation. Summarizing the previous literatures,the main clinical characteristics related to SLC6A1 gene mutation were epilepsy (absence,atonic,myoclonus and myoclonus-atonic),developmental retardation,cognitive impairment and autism or autism-like manifestations. The variants of SLC6A1 gene included missense mutation,nonsense mutation,frameshift mutation,splicing mutation,and chromosome microdeletion. Conclusion The main SLC6A1 variant was missense variant. The main clinical features of patients with SLC6A1 gene mutations were epilepsy and cognition impairment. The relationship between genotype and phenotype needs further study. Valproic acid is the first-line drug and PBA is the potential effective drug.

Type Ⅰ sialidosis:four case reports / 中国神经精神疾病杂志

Sialidosis is a rare autosomal recessive disorder which is classified into type Ⅰ and Ⅱ according to the age of onset and severity of the disease.Type I,also known as mucolipidosis,is often manifested as myoclonus,ataxia,general tonic clonic seizure,and bilateral cherry-red spots in eye examination.Four cases of type Ⅰ sialidosis were reported in order to improve the diagnosis and treatment of this disease.Patients were mainly manifested as myoclonus and ataxia.Whole exon gene sequencing of the four patients all showed the mutation c.544A＞G in the NEU1 gene.Meanwhile,the new mutation c.596G＞A carried was found in case 2 and its pathogenicity was also analyzed.Finally,we summarized the clinical characteristics of type Ⅰ patients in China,noting that most patients develop all the core symptoms as the disease progresses.

Creutzfeldt-Jakob disease: literature review based on three case reports / Doença de creutzfeldt-jakob: revisão da literatura baseada no relato de três casos

ABSTRACT. Creutzfeldt-Jakob disease (CJD) is one of the transmissible spongiform encephalopathies that lead to rapidly progressive dementia. CJD has a low prevalence, and the average survival is only 1 year after the onset of symptoms. As the patients with CJD develop rapidly progressive dementia, associated with myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and akinetic mutism, the hypothesis of CJD must be raised. Classic magnetic resonance imaging (MRI) findings are hypersignals in the caudate nucleus, putamen, and cortical region. CJD must be considered a differential diagnosis of other types of dementia, and there is no effective treatment for this disease. In this article, we present a literature review based on the report of three cases of the sporadic form of this disease.

RESUMO. A doença de Creutzfeldt-Jakob (DCJ) faz parte do grupo das encefalopatias espongiformes transmissíveis que levam a um quadro de demência rapidamente progressiva. A DCJ possui baixa prevalência, e a sobrevida média é de apenas um ano após o início dos sintomas. Diante de um paciente com demência rapidamente progressiva, associada a mioclonias, alterações visuais ou cerebelares, sinais piramidais ou extrapiramidais e mutismo acinético, a hipótese de DCJ deve ser levantada. Os achados clássicos na ressonância magnética são os hipersinais em núcleo caudado, putâmen e região cortical. A DCJ deve ser considerada como um diagnóstico diferencial de outros tipos de demência e não existe um tratamento eficaz para essa doença. Apresentamos neste artigo uma revisão da literatura baseada no relato de três casos da forma esporádica dessa doença.

ATYPICAL MANIFESTATIONS OF SUBACUTE SCLEROSING PANENCEPHALITIS: CASE SERIES

Subacute Sclerosing Panencephalitis (SSPE) is a rare, progressive degenerative disease of the brain caused by reactivation of aberrant measles virus. Classical symptoms of SSPE are described as behavioral changes, declining scholastic performance, myoclonic jerks etc. However, at times it presents with varied atypical manifestations, which makes diagnosis dif?cult. Hereby we report two patients with unusual manifestations of SSPE. In ?rst case, 14-year-old boy presented with recurrent falls of 9 months duration. Initially, it was 1-2 times per week, progressing over 9 months to frequency of 40-50 falls per day. In second case, 21-year-old gentleman presented with behavioral changes and memory disturbance of 1-year duration. However, his family members noticed worsening of symptoms 1 month before presentation as he started developing involuntary jerky movements involving the right upper and lower limb. In both of them electroencephalogram (EEG) was showing long interval periodic discharges and cerebrospinal ?uid was showing elevated titers of anti-measles antibody overall suggesting SSPE. Hence it needs much attention for atypical presentations and also considering SSPE in differential diagnosis of unsolved atypical neurological presentations.

Síndrome de opsoclonia mioclonia idiopático: Reporte de caso en una paciente de 13 meses / Idiopathic opsoclonus myoclonus syndrome: Case report in a 13-month-old female patient

Resumen El síndrome de opsoclonia mioclonía es una entidad neurológica poco frecuente que afecta a los niños en la etapa preescolar. Clínicamente se caracteriza por una triada clásica de opsoclonía, mioclonía y ataxia aguda, con una evolución progresiva o incluso de manera incompleta. Su etiología puede ser paraneoplásica, en la mayoría de los casos en asociación con neuroblastomas, así como postinfecciosa o parainfecciosa, autoinmune o idiopática. En objetivo del tratamiento es la inmunomodulación con terapia de primera línea con esteroides endovenosos aunque pudiendo asociarse a recaídas y secuelas a largo plazo en el ámbito neurológico y conductual. El síndrome de opsoclonia mioclonía representa un reto diagnóstico en los pacientes con ataxia aguda dada la variedad de presentación clínica, por tanto es importante tener una alta sospecha diagnostica para garantizar un tratamiento oportuno y evitar secuelas futuras.

Abstract Opsoclonus myoclonus syndrome is a rare neurological entity affecting preschool children. Clinically it is characterized by a classic triad of opsoclonus, myoclonus, and acute ataxia, with a progressive or even incomplete course. Its etiology can be paraneoplastic, in most cases in association with neuroblastomas, as well as postinfectious or parainfectious, autoimmune or idiopathic. The goal of treatment is immunomodulation with first-line therapy with intravenous steroids, although it can be associated with relapses and long-term neurological and behavioral sequelae. The opsoclonus myoclonus syndrome represents a diagnostic challenge in patients with acute ataxia given the variety of clinical presentations, therefore it is important to have a high diagnostic suspicion to ensure timely treatment and aoid future sequelae.

Generalised Myoclonus and Cerebellar Ataxia Associated with COVID-19 : A Case Report

COVID-19 pandemic is a Global burden to Public Health. An array of Neurological Manifestations have been reported to be associated with COVID-19 like Anosmia, Cerebrovascular accident, Meningitis, Encephalitis, Seizures, Guillain-Barré Syndrome (GBS), Acute Disseminated Encephalomyelitis (ADEM) etc. Generalised Myoclonus and Cerebellar Ataxia, is a less common Neurological Manifestation when compared to others. Here, we report a case of Generalized Myoclonus and Cerebellar Ataxia following COVID-19 infection. The possible mechanisms of Myoclonus and Ataxia following COVID-19 are also discussed

Clinical diagnosis and treatment of 9 childhood opsoclonus-myoclonus syndrome patients and application of standard rating scale / 中华神经科杂志

Objective:To summarize the clinical features of childhood opsoclonus-myoclonus syndrome (OMS), evaluate severity degree and prognosis using OMS Symptom Severity Standard Rating Scale.Methods:The clinical features,diagnosis, therapeutic regimen and follow-up of 9 children with OMS in Department of Neurology and Oncology Department of Children's Hospital of Fudan University between 2011 and 2019 were retrospectively reviewed. Severity degree and prognosis were evaluated using OMS Symptom Severity Standard Rating Scale.Results:Among the 9 children with OMS, 4 were males and 5 were females. The onset age ranged from 14 months to 5 years, with a median of 17 months. Main symptoms were opsoclonus, myoclonus, ataxia, motor function regression, behavior and mood changes and sleep disorders. Eghit patients were combined with tumor. Seven of them with neuroblastoma were confirmed by surgical pathology, the other one showed spontaneous regression and symptom remission without treatment. Eight patients received hormone combined with intravenous immunoglobulin, of which 3 cases received adrenocorticotropic hormone, while 5 cases received methylprednisolone pulse therapy, with prednisone sequential therapy, decreasing dose gradually. Rituximab was administrated in 3 patients whose annual recurrent time was≥2. Nine patients were divided into 3 groups according to OMS Symptom Severity Standard Rating Scale, 1 of mild degree, 3 of moderate degree, 5 of severe degree. There was no recurrence and sequelae in the mild-degree patient after 3 years follow-up. There was no recurrence and sequelae in 2 of the moderate-degree patients after 1-2 years follow-up. Different degrees of motor, cognitive sequelae were found in 1 of moderate-degree patients and all of severe-degree patients after 1-8 years follow-up.Conclusions:Childhood OMS patients have early onset age. Bad symptom severity before treatment and multiphase course are associated with poor prognosis. OMS Symptom Severity Standard Rating Scale is suitable for estimations of long-term prognosis.

Recommendations for Neuroblastoma Associated Opsoclonus-myoclonus-ataxia Syndrome in Childhood / 罕见病研究

@#Opsoclonus-myoclonus-ataxia syndrome(OMAS) is a rare neurological disorder. This disease is often associated with neuroblastoma(NB). OMAS and neuroblastoma in children in China are treated separately by neurology, medical and surgical oncology. In this group of children, NB usually has a good prognosis, while OMAS is prone to sequelae, but the lack of standardized evaluation and follow-up is not conducive to the diagnosis and treatment of the disease. In this study, experts from multidisciplinary fields worked together to develop recommendations for the diagnosis, treatment and follow-up of NB associated OMAS in children, hoping to improve the prognosis of children through standardized management of this group of children.

Recent advance in sialidosis / 中华神经医学杂志

Sialidosis is a rare autosomal recessive genetic disorder, and has a series of clinical symptoms and signs caused by neuraminidase 1 ( NEU1) gene mutations. This article reviews the etiology, clinical features, diagnoses, treatments and prognoses of sialidosis in order to improve the understanding and diagnosis of this disease and reduce the misdiagnosis of this disease.

Clinical and Neurophysiology Characteristics of Patients with Propriospinal Myoclonus / 中风与神经疾病杂志

@#Propriospinal myoclonus （PSM） is a rare movement disorder. Three types of PSM have been reported：symptomatic，idiopathic and functional PSM. PSM at sleep onset is a subtype of idiopathic PSM. The current study summarized the clinical and neurophysiological characteristics of different types PSM. Methods The current study included 2 cases of PSM at sleep onset，2 cases of functional PSM，1 case of symptomatic PSM. Results Two patients with PSM at sleep onset had chronic course. Abdominal jerk was the main complaint，occurring at sleepwake transition. Mental disorders were happened in two cases with functional PSM，one of whom had various patterns of jerk and propagation. Neurophysiological examination showed that functional PSM had longer duration of muscle burst and faster velocity of recruitment. Moreover，myoclonic status was observed in PSM at sleep onset and symptomatic PSM. Conclusion PSM showed specific clinical neurophysiological characteristics according to different types. Differential diagnosis is required in clinics.

Síndrome cistocerebral: a propósito de un caso / Cystocerebral syndrome: A case report

RESUMEN El síndrome cistocerebral fue descrito por primera vez en 1990 por Blackburn y Dunn. Los casos estudiados fueron varones ancianos con síndrome confusional agudo y retención urinaria aguda que, tras un drenaje vesical, presentaron resolución completa del cuadro clínico. Se reporta el caso de un anciano con disminución rápida del nivel de consciencia, mioclonías, hipotensión arterial, bradicardia y retención aguda de orina que experimentó total remisión del cuadro clínico luego del drenaje vesical correspondiente. Se describen, asimismo, los posibles mecanismos implicados en el origen de este síndrome y las alteraciones hemodinámicas y autonómicas subyacentes. Se sugiere considerar al síndrome cistocerebral en el diagnóstico diferencial de pacientes varones ancianos con síndrome confusional o deterioro cognitivo e hipertrofia prostática y que presenten, además, un episodio de retención urinaria aguda.

SUMMARY Cystocerebral syndrome was first described in 1990 by Blackburn and Dunn, in elderly males with acute confusion syndrome and urinary retention, who after bladder drainage experienced full resolution of the clinical picture. We report the case of an elderly male patient with Cystocerebral syndrome and symptoms such as a rapid decrease in consciousness level, myoclonies, hypotension, bradycardia and acute urinary retention who, after bladder drainage presented a complete remission of the clinical picture. The potential mechanisms involved in the origin of this syndrome are described, as well as its underlying hemodynamic and autonomic alterations. Cystocerebral syndrome should be considered in the differential diagnosis of patients with a confusional syndrome and cognitive impairment, diagnosed with prostatic hypertrophy and presenting, in addition, an episode of acute urinary retention.

Mioclonía palatina esencial. Reporte de un caso pediátrico / Essential palatal myoclonus. A pediatric case report

La mioclonía palatina esencial es una entidad otoneurológi-ca rara. Se caracteriza por movimientos involuntarios de los músculos del paladar blando que causan un tinnitus objetivo.La mioclonía del paladar se clasifica en dos tipos: secundaria y primaria (mioclonía palatina esencial); esta última es más frecuente en pediatría. La tomografía computada y la reso-nancia magnética de cerebro normal orientan al diagnóstico. La mioclonía palatina esencial, generalmente, se resuelve en forma espontánea.Se presenta a una paciente de 8 años de edad con un "clic" rápido en forma rítmica en su boca que cedía en forma espontánea

Essential palatal myoclonus is a rare neurological disorder characterized by involuntary movements of the soft palate musculature causing objective-clicking tinnitus. The palatal myoclonus is classified in two forms, secondary and essential palatal myoclonus. Primary (essential) palatal myoclonus is the most common type in childhood. Normal computed tomography and magnetic resonance guide the diagnosis. Spontaneous resolution usually occurs in the essential type of palatal myoclonus.In this report, we present an 8-year-old child making rhythmic, rapid clicking noises from her throat with spontaneous resolution.

A Chinese pedigree of familial encephalopathy with neuroserpin inclusions bodies / 中华神经科杂志

Objective:To report the clinical and genetic features of a pedigree with familial encephalopathy with neuroserpin inclusions bodies (FENIB) and to enhance the understanding of the disease.Methods:The proband was admitted to Department of Neurology, Henan Provincial People′s Hospital in June 2020 due to cognitive impairment and epilepsy. Detailed medical history inquiry, physical examinations, and neuroimaging examination of the family were conducted. The proband completed the examination of brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid examinations. Whole exome sequencing and Sanger sequencing were used to screen the genetic variations in the proband. Sanger sequencing was performed in some family members to verify the mutation. Through literature review, the characteristics of the disease were summarized.Results:The proband was a 23-year-old young female with progressive cognitive impairment, epilepsy as the main manifestations. Brain MRI indicated moderate atrophy of bilateral cerebral cortex. Genetic sequencing revealed a heterozygous missense mutation (c.1013A>G; p.H338R) of SERPINI1 gene encoding the neuroserine protease inhibitor protein. The proband′s mother and brother had similar clinical symptoms in adolescence. Both of them passed away several years later. This mutation was a proven pathogenic mutation for FENIB. The clinical phenotype was consistent within the family. Genotype and clinical phenotype were co-segregated.Conclusion:FENIB due to SERPINI1 gene mutations should be considered in young cases of cognitive decline, epilepsy and myoclonus.

Clinical and electrophysiological study of neck myoclonus during sleep / 中华神经科杂志

Objective:To discuss the clinical and electrophysiological characteristics of neck myoclonus during sleep.Methods:The clinical and electrophysiological characteristics of 31 patients in the Electroencephalography Monitoring Center of Xijing Hospital from January 2020 to August 2020 were studied retrospectively. All the patients received video-polysomnography and video-electroencephalography.Results:There were 22 males (71%) and nine females (29%) in the 31 patients. The mean age of the patients at the time of inclusion in the study was 27.8 years. Neck myoclonus was most common in patients with narcolepsy ( n=8), followed by epilepsy ( n=4), obstructive sleep apnea syndrome ( n=4), anxiety and depression ( n=3), snoring ( n=3), etc. A total of 555 motor events were considered and analyzed, 89.5% (497/555) of which occurred during rapid eye movement (REM) sleep. The mean neck myoclonus index in REM sleep (5.8) was significantly higher than that in non-rapid eye movement sleep (0.2). Totally 48.3% (268/555) of neck myoclonus were accompanied by an arousal, 0.7% (4/555) by a full awakening, and 2.7% (15/555) by limb movements. Conclusions:Neck myoclonus is common during REM sleep, which can occur in patients with sleep disorders and epilepsy. Physiological or pathological significance of neck myoclonus has to be investigated in further studies.