Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report / 临床耳鼻咽喉头颈外科杂志

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

Ataxia cerebelosa aguda y COVID-19: presentación de un caso clínico / Ataxia cerebelosa aguda y COVID-19: presentación de un caso clínico

COVID-19 es una enfermedad viral principalmente respiratoria y/o gastrointestinal. Las manifestaciones neurológicas tienen una frecuencia variable en pediatría. Presentamos un varón de 10 años de edad, previamente sano, que presentó una ataxia cerebelosa durante un cuadro agudo de COVID-19. El SARS-CoV-2 fue detectado por hisopado nasofaríngeo por antígeno y RPC. El LCR fue normal y el cultivo bacteriológico y estudio viral fueron negativos. La TC y RM encefálica fueron normales. No requirió tratamiento específico y tuvo una evolución favorable, con resolución completa de los síntomas neurológicos al mes. Debe considerarse la infección por SARS-CoV-2 como un diagnóstico diferencial entre las causas de ataxia cerebelosa aguda, según la situación epidemiológica.

COVID-19 is a disease that mainly produces respiratory and/or gastrointestinal symptoms. Neurological manifestations occur with a variable frequency in children. We present a previously healthy 10-year-old boy who presented acute cerebellar ataxia during an acute COVID-19. SARS-CoV-2 was detected in a nasopharyngeal sample by antigen and PCR. The CSF was normal, the bacteriological culture and the viral PCR were negative. CT of the brain and gadolinium MRI of the brain were normal. He did not require specific treatment and had a favorable evolution, with complete resolution of neurological symptoms at one month. SARS-CoV-2 infection should be considered as a differential diagnosis between the causes of acute cerebellar ataxia, according to the epidemiological situation.

Encefalitis aguda con síndrome cerebeloso secundario a neuroborreliosis / Cerebellar syndrome associated to Lyme neuroborreliosis: case report

La enfermedad de Lyme es la infección transmitida por garrapatas más común en Norteamérica y Europa. Sin embargo, en América Latina se han reportado pocos datos. Borrelia burgdorferi es capaz de invadir el sistema nervioso central causando la neuroborreliosis de Lyme. Se comunica el caso de una mujer joven con encefalitis y síndrome cerebeloso, una presentación poco frecuente, que se manifestó con cefalea, marcha atáxica, nistagmo y ptosis palpebral. Se realizó el diagnóstico con serología positiva por Western blot para Borrelia burgdorferi en suero. Recibió tratamiento con mejoría clínica. El diagnóstico de neuroborreliosis es difícil, ya que no existen hallazgos neurológicos o de imagen específicos. Se recomienda tener un mayor nivel de vigilancia epidemiológica en Latinoamérica, así como los antecedentes recreativos o viajes, que deben incluirse en la historia clínica para mejorar la aproximación diagnóstica.

Lyme disease is the most common tick-borne disease in North America and Europe. However, in Latin America, few data have been reported. Borrelia burgdorferi is capable of invading the central nervous system causing Lyme neuroborreliosis. This is a case report of a female with encephalitis and cerebellar syndrome, a rare manifestation, presented with generalized headache ataxic gait, nystagmus and palpebral ptosis. Serologic diagnosis was made for Borrelia burgdorferi and treatment was initiated with clinical improvement. Neuroborreliosis is a very difficult diagnosis, since there are no neurologic or imaging findings specific. It is recommended to physicians to have an enhanced level of surveillance in Latin America, as well as recreational/travel history of the patient, which should be included in the clinical record to improve the diagnostic approach.

Clinical profile of spontaneous cerebellar hemorrhage - An original article

Spontaneous cerebellar hemorrhages are rare when compared to cerebral hemorrhages. They are characterized by occipital headache, repeated vomiting, and ataxia of gait. In mild cases there may be only gait ataxia. There may be Dizziness or vertigo, paresis of conjugate lateral gaze towards the side of the lesion, forced deviation of the eyes to the opposite side, or an ipsilateral sixth nerve palsy, blepharospasm, and skew deviation. Dysarthria and dysphagia may occur. The patient often becomes stuporous and then comatose from brainstem compression or obstructive hydrocephalus; immediate surgical evacuation before brainstem compression occurs, may be lifesaving. The introduction of computed tomography (CT) scan, had brought about a sea change in diagnosis and management. The most significant prognostic factors determining the outcome at one month were the grade of quadrigeminal cistern obliteration on the initial CT scan and the Glasgow Coma Scale on admission. The introduction of drugs like nimodepine made all the difference in the outcomes. We hereby share our experience in managing 12 cases of spontaneous cerebellar hemorrhage.

Cerebellar ataxia after a single day of metronidazole use: Case report

Cerebellar ataxic syndromes, although uncommon, have been reported previously in patients taking metronidazole. However, almost all cases describe instances where patients were taking prolonged or high doses of the drug. We report a 65-year-old man who consumed 400 mg of metronidazole 3 times over 1 day and presented with slurring of speech, imbalance while walking and diplopia. The symptoms developed the day after consumption of metronidazole. Examination showed slurring of speech, gaze-evoked nystagmus, and dysmetria in all limbs. MRI brain revealed symmetric hyperintense lesions in the dentate nucleus and pons on T2-weighted imaging and FLAIR, which have a well-established association with metronidazole-induced central nervous system (CNS) toxicity. On discontinuation of the drug, symptoms improved, and complete recovery was noted at follow-up 2 weeks later. This case indicates that CNS side effects of metronidazole may not necessarily occur only at high doses or after prolonged courses of metronidazole, but may occur as an idiosyncratic reaction to the drug. Reasons for variable susceptibility require further investigation.

Susceptibility weighted imaging of superficial cerebellar veins / 解剖学报

[Abstract] ObjectVisualizing the superficial cerebellar vein and its tributaries on suscepxibility weighted imaging (SWI), and to construct superficial cerebellar vein network. Methods According to the inclusion criteria, 80 healthy volunteers (40 males and 40 females) were selected for 3. 0 T MRI scans to obtain conventional sequence cross-section, sagittal tomographic images, and SWI image data. Post-processing was performed on the Extended MR workspace 2. 6. 3. 4 image workstation to reconstruct minimum intensity projection(mIP) images. SPSS 21. 0 statistical software was used to analyze and process each data, and the diameter measurement result were expressed as mean ± standard deviation. Results Both SWI and mIP could image the structures of the cerebellum and its veins. The cerebellar veins were divided into deep and superficial parts. The superficial cerebellar veins were divided into two groups: the vermis and the cerebellar hemispheres. The superficial vein of the cerebellar vermis consisted of superior vermis vein [diameter: (1. 21±0. 24)mm, occurrence rate: 92. 16%], summit vein [ diameter: (0. 66 ± 0. 05) mm, occurrence rate: 95%], mountain vein [diameter: (0. 76±0. 03)mm, occurrence rate: 100%], inferior vermis vein [diameter: (1. 40±0. 27)mm, occurrence rate: 99. 02%]. The superficial cerebellar hemisphere vein consists of anterior superior cerebellar vein [diameter: (1. 09± 0. 12)mm, occurrence rate: 100%], posterior superior cerebellar vein [diameter: (0. 88±0. 13) mm, occurrence rate: 70%], anterior inferior cerebellar vein [ diameter: (1. 34 ± 0. 15) mm, occurrence rate: 100%], posterior inferior cerebellar vein [ diameter: (1. 11 ± 0. 09) mm, occurrence rate: 92. 5%]. The deep veins were divided into cerebellomesencephalic fissure group, cerebellopontine fissure group, and cerebellomedullary fissure group. Conclusion SWI can display the microstructure and venules of the cerebellum, and can construct a network of superficial cerebellar veins.

Clinical Features and Mutation Analysis of Gordon Holmes Syndrome Associated with RNF216 Gene Mutation and a Literature Review / 罕见病研究

  Objective  To summarize the clinical characteristics and RNF216 gene mutation of a patient with Gordon Holmes syndrome (GHS), and to improve the understanding of the genetic and clinica characteristics of this disease through literature review.  Methods  We collected the clinical data of the patient with GHS, extracted the DNA from 2 mL peripheral venous blood of the patient and his parents for whole exome gene detection, and then we analyzed the clinical and genetic characteristics of all previously reported patients with RNF216 gene mutation.  Results  The young male patient was short in stature at sixyearsold and was diagnosed growth hormone deficiency.He had no secondary sexual characteristics by the age of 15 and was diagnosed hypogonadal hypogonadism.After the age of 22, he gradually developed abnormal gait and had progressive decline in speech, motor, and cognitive functions.Whole exome sequencing revealed a homozygous, nonsense mutation c.1549C>T (p.R517*) in the RNF216 gene.His parents were consanguineous and were heterozygous carriers of the mutations with phenotypic normality.Combined with literature review and this case report results showed that a total of 21 patients of the disease in the world and among them 15 had pathogenic variants of RNF216 gene mutation.7 of the 15 had truncated mutations, 5 had missense mutations, and 1 synonym mutation, 1 splice mutation, and 1 deletion mutation respectively.RNF216 gene mutation can be seen in neurodegenerative diseases with multiple overlapping symptoms of GHS, Huntington-like disease, and 4H syndrome.The main clinical manifestations are hypogonadotropic hypogonadism and early-onset progressive neurological dysfunction in adolescence or early adulthood.The median age of onset of neurological symptoms is 28 years old, featuring cerebellar ataxia, dysarthria, and cognitive impairment, as well as imaging manifestations of extensive white matter lesions and cerebellar atrophy.  Conclusions  The mutation of RNF216 gene can cause GHS.Genetic testing is helpful to the diagnosis and treatment of rare diseases.

Magnetic resonance imaging features of cerebellar atrophy pattern after epilepsy / 中南大学学报(医学版)

OBJECTIVES@#Clinically, it has been found that some patients with epilepsy are accompanied by cerebellar atrophy that is inconsistent with symptoms, but the pattern of cerebellar atrophy after epilepsy and the role of cerebellar atrophy in the mechanism of epilepsy have not been elucidated. This study aims to explore the specific pattern of cerebellar atrophy after epilepsy via analyzing magnetic resonance images in patients with postepileptic cerebellar atrophy.@*METHODS@#A total of 41 patients with epilepsy, who received the treatment in Xiangya Hospital of Central South University from January 2017 to January 2022 and underwent cranial MRI examination, were selected as the case group. The results of cranial MRI examination of all patients showed cerebellar atrophy. In the same period, 41 cases of physical examination were selected as the control group. General clinical data and cranial MRI results of the 2 groups were collected. The maximum area and signal of dentate nucleus, the maximum width of the brachium pontis, the maximum anterior-posterior diameter of the pontine, and the maximum transverse area of the fourth ventricle were compared between the 2 groups. The indexes with difference were further subjected to logistic regression analysis to clarify the characteristic imaging changes in patients with cerebellar atrophy after epilepsy.@*RESULTS@#Compared with the control group, the maximum width of the brachium pontis and the maximum anterior-posterior diameter of the pontine were decreased significantly, the maximum transverse area of the fourth ventricle was increased significantly in the case group (all P<0.05). The difference in distribution of the low, equal, and high signal in dentate nucleus between the 2 groups was statistically significant (χ2=43.114, P<0.001), and the difference in the maximum area of dentate nucleus between the 2 groups was not significant (P>0.05). The maximum width of the brachium pontis [odds ratio (OR)=3.327, 95% CI 1.454 to 7.615, P=0.004] and the maximum transverse area of the fourth ventricle (OR=0.987, 95% CI 0.979 to 0.995, P=0.002) were independent factors that distinguished cerebellar atrophy after epilepsy from the normal control, while the anterior-posterior diameter of pontine (OR=1.456, 95% CI 0.906 to 2.339, P>0.05) was not an independent factor that distinguished them.@*CONCLUSIONS@#In MRI imaging, cerebellar atrophy after epilepsy is manifested as significant atrophy of the brachium pontis, significant enlargement of the fourth ventricle, and increased dentate nucleus signaling while insignificant dentate nucleus atrophy. This particular pattern may be associated with seizures and exacerbated pathological processes.

Resección de astrocitoma fibrilar cerebeloso con apoyo endoscópico. Presentación de un caso

Se presentó paciente femenina de 7 años de edad, con antecedentes de salud aparente, atendida en el Hospital Pediátrico Docente "Pedro Agustín Pérez", de provincia Guantánamo. Al interrogatorio, la madre refirió semana de evolución con cefalea y vómitos. Cumplió tratamiento con analgésicos y antieméticos sin resolución de dicho cuadro. El estudio de resonancia magnética nuclear de cráneo informó en T1, corte axial, una lesión ocupativa de espacio, hipointensa, de aspecto quístico de fosa posterior, en hemisferio cerebeloso derecho, que comprimía el IV ventrículo, lo que causó una hidrocefalia obstructiva secundaria. Se realizó ventriculostomía con derivación ventriculoperitoneal y resección macroscópica de lesión con apoyo endoscópico. Se confirmó por estudio histopatológico el diagnóstico de astrocitoma fibrilar cerebeloso.

A seven years old female patient was evaluated at the Hospital Pediátrico Docente "Pedro Agustín Pérez", in Guantánamo, with a history of an apparent health situation. The patient´s mother referred a week with headache and vomiting. Patient underwent an analgesics and antiemetics treatment without resolution of symptoms. A magnetic resonance imaging study of the brain showed in T1 scan, in the axial section, a space-occupying, hypointense, and appearance of posterior fossa cystic lesion, in the right cerebellar hemisphere, which was compressing the IV ventricle, causing obstructive hydrocephalus secondary. Ventriculostomy routing ventriculoperitoneal shunt and macroscopic resection of lesion with endoscopic support included was performed. Cerebellar fibrillary astrocytoma was the diagnosis confirmed by histopathological study.

Paciente do sexo feminino, 7 anos, com histórico aparente de saúde, atendida no Hospital Pediátrico Docente "Pedro Agustín Pérez", na província de Guantánamo. Ao ser questionada, a mãe relatou uma semana de evolução com cefaléia e vômitos. Efetuou tratamento com analgésicos e antieméticos sem resolução dos referidos sintomas. O estudo de ressonância magnética nuclear do crânio relatou em T1, corte axial, lesão hipointensa, expansiva, de aspecto cístico em fossa posterior, no hemisfério cerebelar direito, que comprimia o quarto ventrículo, causando hidrocefalia obstrutiva secundária. Foi realizada ventriculostomia com derivação ventriculoperitoneal e ressecção macroscópica da lesão com suporte endoscópico. O diagnóstico de astrocitoma fibrilar cerebelar foi confirmado pelo estudo histopatológico.

OLIG2 expression level could be used as an independent prognostic factor for patients with cerebellar Glioblastoma (cGBM)

Abstract Objectives: The incidence of cerebellar Glioblastoma Multiforme (cGBM) is rare. Database like TCGA have not distinguish cGBM from GBM, our knowledge on cGBM gene expression characteristics is limited. The expression status of Oligodendrocyte Lineage Transcription factor 2 (OLIG2) and its clinical significance in cGBM is still unclear. Methods: The clinical data and tissue specimens of 73 cGBM patients were retrospectively studied. The association between OLIG2 expression level and the demographic characteristics of cGBM patients was identified by the Chi-Square test. The survival curves were drawn by Kaplan-Meier analysis. The independent prognostic factors was calculated according to Cox regression analysis. Results: The OLIG2 high expression was observed in about 57.5% (42/73) of the cGBM patients. Patients with high OLIG2 expression levels had a higher alive ratio at the end of follow-up (alive ratio: 70.6% vs. 29.4%, p = 0.04). The median survival time was 21 months and 13 months for high and low expression of OLIG2 (p < 0 .05). Univariate analysis and Multivariate analysis indicated that EOR (HR = 3.89, 95% CI 1.23−12.26, p = 0.02), low OLIG2 expression (HR = 5.26, 95% CI 1.13−24.59, p = 0.04), and without adjuvant therapy (HR = 4.95, 95% CI 1.22−20.00, p = 0.03) were independent risk factors for the OS of cGBM patients. Conclusion: High expression level of OLIG2 could be used as an independent favorable prognosis indicator in cGBM patients and be recognized as a characteristic biomarker of cGBM.

Clinical features and stroke etiology in 10 patients with bilateral middle cerebellar peduncle infarctions: a preliminary study / 中华神经科杂志

Objective:To characterize clinical and neuroimaging features, etiologies, and mechanisms of bilateral middle cerebellar peduncle (MCP) infarctions.Methods:Consecutive patients with bilateral MCP infarctions treated in the Beijing Tiantan Hospital, Capital Medical University between January 1, 2020 and April 30, 2022 were enrolled in this retrospective study. The demographic data, vascular risk factors, clincial manifestations and the National Institutes of Health Stroke Scale (NIHSS) scores were collected. Brain diffusion-weighted imaging was used to assess the regions of cerebral infarction, and the extracranial and intracranial segments of the vertebrobasilar artery were evaluated using magnetic resonance angiography, or computed tomography angiography. The stroke etiology and underlying mechanism were evaluated according to the Chinese Ischemic Stroke Subclassification.Results:Ten patients with bilateral MCP infarctions (8 men and 2 women) were analyzed ultimately. The onset age were 51.0-86.0 (64.8±11.4) years. NIHSS scores were 2.0-12.0 (4.9±2.9) points at admission. All patients had vascular risk factors, most of which were hypertension (10 cases) and dyslipoproteinemia (8 cases). The most common clinical manifestations were vertigo (10 cases), followed by ataxia (9 cases) and dysarthria (8 cases). Four cases were isolated bilateral MCP infarctions, while 6 patients were combined with other vertebrobasilar artery infarctions, 4 of which were combined with cerebellar hemisphere infarctions, consistent with the clinical symptoms. The etiology in all patients was large atherosclerosis (severe stenosis or occlusion of V4 segment of vertebral artery and anterior inferior cerebellar artery; 9 cases). Five patients were classified as hypoperfusion/impaired emboli clearance, while 4 patients were considered as artery-to-artery embolism, and 1 was considered as the parent artery (plaque or thrombosis) occluding penetrating artery.Conclusions:Bilateral MCP infarctions are an extremely rare cerebrovascular disease characterized by vertigo, ataxia, and dysarthria. Cerebral infarction can be isolated or often combined with cerebellar hemisphere infarction. The etiology was mostly stenosis or occlusion of V4 segment of vertebral artery and anterior inferior cerebellar artery.

Common and uncommon neuroimaging manifestations of ataxia: an illustrated guide for the trainee radiologist. Part 2 - neoplastic, congenital, degenerative, and hereditary diseases / Manifestações de neuroimagem comuns e incomuns na ataxia: um guia ilustrado para radiologistas em treinamento. Parte 2 - doenças neoplásicas, congênitas, degenerativas e hereditárias

Abstract Ataxia is defined as a lack of coordination of voluntary movement, caused by a variety of factors. Ataxia can be classified by the age at onset and type (chronic or acute). The causative lesions involve the cerebellum and cerebellar connections. The correct, appropriate use of neuroimaging, particularly magnetic resonance imaging, can make the diagnosis relatively straightforward and facilitate implementation of the appropriate clinical management. The purpose of this pictorial essay is to describe the imaging findings of ataxia, based on cases obtained from the archives of a tertiary care hospital, with a review of the most important findings. We also discuss and review the imaging aspects of neoplastic diseases, malformations, degenerative diseases, and hereditary diseases related to ataxia.

Resumo Ataxia é definida como uma síndrome de falta de coordenação dos músculos de movimentação voluntária. Vários fatores podem causar ataxias, as quais podem ser classificadas de acordo com a idade, tipo de evolução (crônica ou aguda), cujas lesões envolvem o cerebelo e as conexões cerebelares. Com o uso correto e apropriado da neuroimagem, particularmente da ressonância magnética, o diagnóstico pode ser relativamente direito e o manejo clínico pode ser implementado de maneira correta. O objetivo deste artigo é descrever os achados de imagem na síndrome atáxica a partir de casos recuperados do arquivo digital de um hospital terciário, com a revisão dos principais achados de imagem. Neste ensaio revisamos e discutimos os aspectos de imagem de doenças neoplásicas, malformações, doenças degenerativas e doenças hereditárias relacionadas à ataxia.

Common and uncommon neuroimaging manifestations of ataxia: an illustrated guide for the trainee radiologist. Part 1 - acquired diseases / Manifestações de neuroimagem comuns e incomuns na ataxia: um guia ilustrado para radiologistas em treinamento. Parte 1 - doenças adquiridas

Abstract Ataxia is defined as a lack of coordination of voluntary movement, caused by a variety of factors. Ataxia can be classified by the age at onset and type (chronic or acute). The causative lesions involve the cerebellum and cerebellar connections. The correct, appropriate use of neuroimaging, particularly magnetic resonance imaging, can make the diagnosis relatively accurate and facilitate implementation of the appropriate clinical management. The purpose of this pictorial essay is to describe the imaging findings of ataxia, based on cases obtained from the archives of a tertiary care hospital, with a review of the most important findings. We also review and discuss the imaging aspects of infectious, toxic, vascular, and inflammatory diseases.

Resumo Ataxia é definida como uma síndrome de falta de coordenação dos músculos de movimentação voluntária. Vários fatores podem causar ataxias, os quais podem ser classificados de acordo com a idade, tipo de evolução (crônica ou aguda), cujas lesões envolvem o cerebelo e as conexões cerebelares. Com o uso correto e apropriado da neuroimagem, particularmente da ressonância magnética, o diagnóstico pode ser relativamente preciso e o manejo clínico pode ser implementado de maneira correta. O objetivo deste artigo é descrever os achados de imagem na síndrome atáxica com base em casos recuperados do arquivo digital de um hospital terciário, com a revisão dos principais achados de imagem. Neste ensaio revisamos e discutimos os aspectos imagem de doenças infecciosas, tóxicas, vasculares e inflamatórias.

Potpourri of retinopathies in rare eye disease – A case series

This case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case series consists of five patients with varied ophthalmic manifestations and documentation of imaging in rare pediatric and adult retinopathies. Two patients had Kearns Sayre syndrome (KSS) based on the classical triad of external ophthalmoplegia, pigmentary retinopathy, and onset before 20 years of age. In one patient of KSS, the mitochondrial retinopathy was seen in an asymmetric pattern, and the second patient presented with KSS after being mis-diagnosed as myasthenia gravis elsewhere. A case of Senior Loken syndrome in pediatric age is described in this series with varied ophthalmic manifestations ranging from retinitis pigmentosa to orbital abscess. This series also enlightens features of Hallervorden Spatz syndrome presenting with bull’s eye maculopathy and a case of spino-cerebellar ataxia type 7 presenting with pigmentary retinopathy.

A case of subclinical hypothyroidism with cerebellar ataxia

Hypothyroidism is a common condition, the symptoms and signs of which vary with the duration and magnitude of thyroid hormone deficiency. Hypothyroidism can have rare neurologic problems such as reversible cerebellar ataxia. Subclinical hypothyroidism refers to biochemical evidence of thyroid hormone deficiency in patients who have few or no apparent clinical features of hypothyroidism. Here, we present a case of a 70-year-old woman with complaints of giddiness and unsteadiness of 6 months’ duration. Subsequent evaluation revealed titubation, broad-based reeling gait, and dysarthria. A MRI of the brain showed diffuse moderate cerebral atrophy with periventricular ischemic white matter changes and normal cerebellum. Further investigations revealed evidence of subclinical hypothyroidism. The patient was started on oral thyroxine supplements with a relief of symptoms following 3 weeks after the initiation of treatment and a complete recovery from symptoms after about 3 months of the initiation of treatment. The association of cerebellar involvement at the stage of subclinical hypothyroidism is a rare finding, making the case academically interesting.

Xylometazoline Induced Isolated Left Medial Cerebellar Peduncle Infarct: A Rare Case Report

Xylometazoline, a sympathomimetic available as over the counter drug, acts as a nasal decongestant and has been reported as an independent risk factor for hemorrhagic and ischemic stroke. The chronic use of xylometazoline leads to either increased release of more potent vasoconstrictor norepinephrine in the presynaptic region, or acts directly on central adrenoreceptors which leads to dysfunction resulting in chronic progressive vasculopathy that manifests as an ischemic stroke. Sympathomimetics also activate 12-lipoxygenase pathways which induce proliferation and migration of vascular smooth muscle cells. 12-lipoxgenase also plays a significant role in regulating the degree and stability of platelet activation, as its activation significantly strengthens platelet activation and uncontrolled platelet activation, which may lead to myocardial infraction and stroke. The present case reports a rare case of young adult suffering from isolated left medial cerebellar peduncle infarct related to the chronic use of xylometazoline. Acute cerebellar stroke is rare, especially in young adults and represent only 3% of total ischemic and hemorrhagic strokes. Clinical symptoms, patient age at the onset of stroke, and lesion size had no significant effect on the clinical outcome. Symptoms are frequently underestimated and misdiagnosed which further lead to serious complications and poor functional outcomes.

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

Progressive psychomotor regression for 2.5 years in a boy aged 5 years / 中国当代儿科杂志

A boy, aged 5 years, attended the hospital due to progressive psychomotor regression for 2.5 years. Motor function regression was the main manifestation in the early stage, and brain MRI and whole-exome sequencing (WES) of the family showed no abnormalities. After the age of 4 years and 9 months, the boy developed cognitive function regression, and brain MRI showed cerebellar atrophy. The reanalysis of WES results revealed a compound heterozygous mutation, [NM_000520, c.784C>T(p.His262Tyr]), c.1412C>T(p.Pro471Leu)], in the HEXA gene. The enzyme activity detection showed a significant reduction in the level of β-hexosaminidase encoded by this gene. The boy was diagnosed with juvenile Tay-Sachs disease (TSD). TSD has strong clinical heterogeneity, and cerebellar atrophy may be an important clue for the diagnosis of juvenile TSD. The reanalysis of genetic data when appropriate based on disease evolution may improve the positive rate of WES.

A Case of Cerebellar Cognitive Affective Syndrome（CCAS）with Aphasia due to Cerebellar Infarction Detected Using Arterial Spin Labeling （ASL）MRI / The Japanese Journal of Rehabilitation Medicine

Higher brain dysfunctions commonly interfere with functional reconstruction during rehabilitation. Most culprit lesions causing higher brain dysfunctions are observed in the cerebral cortex. However, recently, higher brain dysfunction caused by cerebellar lesions, termed cerebellar cognitive affective syndrome (CCAS), has attracted attention. Here, we report a case of CCAS in a patient with cerebellar infarction exhibiting aphasia, where arterial spin labeling (ASL) method of magnetic resonance imaging (MRI) was used to confirm decreased blood flow due to crossed cerebello-cerebral diaschisis (CCCD). The patient was a 5x years old, left-handed female. She was initially admitted to a neurosurgical hospital for dizziness. MRI demonstrated cerebellar infarction in the left posterior inferior cerebellar artery area. The next day, she was admitted to our hospital for surgery after the diagnosis of hemorrhagic cerebellar infarction due to progressive loss of consciousness. Craniotomy was performed to remove the hematoma. Neurological examination revealed fluent aphasia and ataxia in the left upper and lower extremities and trunk. ASL demonstrated decreased cerebral blood flow in the left cerebellar hemisphere and right front-temporal lobe. Therefore, we detected that CCCD resulted in higher brain dysfunction. After 3 months of inpatient rehabilitation, the patient's auditory comprehension, word conversion, and word recall improved. The patient was discharged unaided. This study used ASL to confirm the diagnosis and rehabilitation of the CCAS incidence effectively.