Reduced cerebral blood flow and cognitive dysfunction following isolated cerebellar infarction: two case reports.

Cognitive impairment in focal cerebellar disorders has been widely recognized and is described as cerebellar cognitive affective syndrome (CCAS). However, the relationship between CCAS and crossed cerebello-cerebral diaschisis (CCD) has rarely been discussed. The present report describes the uncommon phenomenon of CCD in two cases with isolated cerebellar infarction, and discuss its contribution to cognitive impairment. Cognitive performance was examined using the CCAS scale and a battery of neuropsychological assessments. Moreover, the relative distribution of cerebral and cerebellar blood flow was measured using three-dimensional arterial spin labeling imaging. Case 1 showed deficits in general cognition and had impaired language, episodic memory, and executive function. Case 2 showed deficits in general cognition at baseline, and cognitive deterioration of visuospatial abilities, language, episodic memory, and executive function was observed at the 3-month follow-up. Both cases met the diagnosis criteria of CCAS. Reduced cerebral blood flow was observed in the cerebral hemisphere contralateral to the cerebellar infarction at baseline in Case 1, and at the 3-month follow-up in Case 2. The present report describes cognitive decline after isolated cerebellar infarction in combination with contralateral cerebral hypoperfusion, as measured using quantitative arterial spin labeling. One possible mechanism involves the functional depression of cerebello-cerebral pathways.

Cerebellar leptomeningeal enhancement: An imaging finding of rapidly progressive Purkinje cell cytoplasmic autoantibody type 1 paraneoplastic cerebellar syndrome.

Purkinje cell cytoplasmic autoantibody type 1 (PCA1), also known as anti-Yo, is a 'high-risk' paraneoplastic antibody, associated with rapidly progressive cerebellar syndrome. In patients with this syndrome, various MRI abnormalities have been documented, including atrophy in the cerebellum and brainstem, T2 hyperintensity in the brainstem and spinal cord, and cranial nerve enhancement. This report introduces an imaging finding, cerebellar leptomeningeal enhancement, which was observed in all three cases at early stages. Despite neurological deterioration, all patients underwent immunotherapy, and subsequent follow-up MRI revealed resolution of the leptomeningeal enhancement, suggesting that this feature is distinct from meningeal carcinomatosis.

Mixed Aphasia Caused by Bilateral Cerebellar Infarcts: a Case Report.

Although neuroanatomical and physiological understanding of the cerebellum has evolved over recent decades and continues to develop, there is much that remains to be expounded upon, especially with regard to nonmotor roles. Neurocognitive and language processing is one area where involvement of the cerebellum is no longer in question, but the extent and mechanism of this relationship have yet to be defined. For example, which of the cerebellar hemispheres is involved continues to be debated. We present a case wherein a thrombus in the basilar artery led to bihemispheric cerebellar strokes with profound mixed effects on the patient's language and cognition. To the authors' knowledge, this is the first reported case of bilateral cerebellar strokes resulting in a mixed aphasia reported in scientific literature. This demonstrates the importance of continued research into a model for cerebellar function and the clinical impact of lesions to various cerebellar regions.

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.

Pontocerebellar hypoplasia (PCH) is a rare heterogeneous neurodegenerative disorder affecting the pons and cerebellum and is currently classified into 17 types (PCH1-PCH17). PCH1 is distinguishable from other types by the association of spinal motor neuron dysfunction. Based on the underlying genetic etiology, PCH1 is further classified into 6 different subtypes (PCH1 A-F). Of them, PCH type 1C is caused by pathogenic variants in EXOSC8 gene and so far, only four families have been described in the literature. In this study, we report a new patient with PCH1 who proved by whole-exome sequencing to harbor a novel homozygous missense variant in the splice region of EXOSC8 gene (c.238 G > A; p.Val80Ile). Studying mRNA of the patient confirmed that this variant results in skipping of exon 5 of the gene and early protein truncation. Our patient presented with the main clinical findings of PCH type 1C including psychomotor retardation, spasticity, spinal muscle atrophy, and respiratory problems. However, unlike most of the reported cases, he did not develop hearing or visual impairment and displayed a longer survival. In addition, our patient had dysmorphic facies, nystagmus, congenital esotropia and contractures which were infrequently described in patients with EXOSC8. Diaphragmatic hernia, dilated lateral ventricles, hypoplastic temporal lobes, and thinning of the brain stem were additional new findings noted in our patient. This study presents the fifth family with this extremely rare type of PCH and expands the associated clinical and brain imaging findings.

Pseudoatrofia cerebral y cerebelosa asociada a ácido valproico. Descripción de tres casos pediátricos / Cerebral and cerebellar pseudoatrophy associated with valproic acid. Report of three pediatric cases

Introducción La pseudoatrofia cerebral y cerebelosa es un efecto adverso infrecuente del ácido valproico (VPA) que debemos conocer por sus implicaciones diagnósticas y terapéuticas. Caso clínico Presentamos tres casos de niños de entre 5 y 9 años, con epilepsia y resonancia magnética craneal previa normal, que llevaban el fármaco con dosis correctas. La pseudoatrofia se manifiesta de forma subaguda con síntomas e imagen de atrofia cerebral y/o cerebelosa, reversible tras la retirada del fármaco. Discusión y conclusiones. Se trata de un tipo de encefalopatía relacionada con VPA diferente a la encefalopatía tóxica dependiente de la dosis, la encefalopatía hiperamoniémica o la relacionada con fallo hepático. En niños, cursa con deterioro cognitivo, motor, anímico y conductual, y puede acompañarse de descompensación epiléptica. La retirada del fármaco conlleva una recuperación completa clinicorradiológica, y la disminución de dosis, una mejoría. (AU)

INTRODUCTION Cerebral and cerebellar pseudoatrophy is a rare adverse effect of valproic acid (VPA) that we need to be aware of, due to its diagnostic and therapeutic implications. CASE REPORT We report three cases of children between 5 and 9 years old, with epilepsy and previous normal brain magnetic resonance imaging, who were taking the drug at correct doses. Pseudoatrophy manifests subacutely with symptoms and images of cerebral and/or cerebellar atrophy, reversible after drug withdrawal. Discussion and conclusions. This is a type of VPA-related encephalopathy, different from dose-dependent toxic encephalopathy, hyperammonaemic encephalopathy or encephalopathy related to liver failure. In children, it causes cognitive, motor, mood and behavioral deterioration, and may be accompanied by epileptic decompensation. Withdrawing the drug leads to complete clinical-radiological recovery, and reducing the dose leads to improvement. (AU)

Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical, Neurodevelopmental, and Imaging Insight From 19 Extremely Premature Patients.

It is well established that extreme prematurity can be associated with cerebellar lesions potentially affecting the neurologic prognosis. One of the commonly observed lesions in these cases is pontocerebellar hypoplasia resulting from prematurity, which can pose challenges in distinguishing it from genetically caused pontocerebellar hypoplasia. This confusion leads to unacceptable and prolonged diagnostic ambiguity for families as well as difficulties in genetic counseling. Therefore, it is crucial to identify the clinical and neuroradiologic features allowing to differentiate between acquired and genetic forms of pontocerebellar hypoplasia in order to guide clinical practices and improve patient care. In this regard, we report in the present manuscript the clinical, developmental, and radiologic characteristics of 19 very premature children (gestational age <28 weeks, now aged 3-14 years) with cerebellar lesions and discuss the causal mechanisms. Our findings support the notion that a combination of specific clinical and radiologic criteria is essential in distinguishing between acquired and genetic forms of pontocerebellar hypoplasia.

Cerebellar Abscess Induced by Cochlear Fistula due to Chronic Suppurative Otitis Media.

Cochlear fistulas with cholesteatoma as the primary disease have been reported frequently in the relevant literature. However, there are no reports of cochlear fistula without cholesteatoma due to chronic suppurative otitis media with intracranial complications. We report a case of cochlear fistula due to chronic otitis media that was diagnosed after the onset of a cerebellar abscess. The patient was a 25-year-old man with severe autism. He was admitted to our hospital with otorrhea from his left ear, emesis, and impaired consciousness. Computed tomography (CT) of the head showed left suppurative otitis media, left cerebellar abscess, and brainstem compression due to hydrocephalus. Right extra-ventricular drainage and brain abscess drainage were urgently performed. The next day, foramen magnum decompression and abscess drainage with partial resection of the swollen cerebellum were performed for decompression purposes. He was subsequently treated with antimicrobial therapy, but magnetic resonance imaging of the head showed an increase in the size of the cerebellar abscess. Re-examination of the temporal bone CT scans revealed a bony defect in the left cochlear promontory angle. We assumed that the cochlear fistula was responsible for the otogenic brain abscess. Thus, the patient underwent surgical closure of the cochlear fistula. After the operation, the cerebellar abscess lesion gradually shrank, and his general condition stabilized. Cochlear fistula should be considered in the management of patients with inflammatory middle ear disease associated with otogenic intracranial complications in the middle ear.

Cerebellar infarction caused by vertebral artery dissection: A case report.

RATIONALE: Vertebral artery dissection is an important cause of posterior circulation ischemic stroke in young and middle-aged people. We reported a young man with cerebellar infarction caused by dissection of the right vertebral artery. PATIENT CONCERNS: A 34-year-old man presented with intermittent dizziness, blurred vision, nausea, and transient tinnitus 10 days before admission. All these symptoms were gradually aggravated and followed by vomiting and unfavorable movement of the right limbs. All these symptoms gradually aggravated. DIAGNOSIS: Neurological examination on admission showed ataxia of the right limbs. Magnetic resonance imaging of the head revealed a right cerebellar infarction. High-resolution vessel wall magnetic resonance imaging showed dissection of the right vertebral artery. Whole-brain CT digital subtraction angiography revealed occlusion of the third segment (V3) of the right vertebral artery. This supports the diagnosis of vertebral artery dissection. INTERVENTIONS: The patient received anticoagulant treatment with warfarin. OUTCOMES: After 2 weeks of treatment, the patient showed remarkably alleviated dizziness and unfavorable movement of the right limbs. After 3 months of treatment, the modified Rankin Scale score was 0. MRI of the head revealed that the original right cerebellar focus was softened, and there were no newly formed infarct foci. LESSONS: When young and middle-aged patients without atherosclerotic risk factors encounter sudden dizziness, tinnitus, and unfavorable limb movement, vertebral artery dissection may be considered. Careful inquiry into the medical history may help make a final diagnosis. Further high-resolution vessel wall magnetic resonance imaging is an effective means to find arterial dissection. Early diagnosis and treatment for vertebral artery dissection has a favorable prognosis.

Remote cerebellar hemorrhage following repeated lumbar punctures.

BACKGROUND: Remote cerebellar hemorrhage (RCH) is a rare complication in neurosurgery. No case of RCH secondary to repeated lumbar punctures (LPs) has been previously reported. CASE PRESENTATION: A 49-year-old man presented with impaired consciousness following persistent fever. Cerebrospinal fluid examination showed high opening pressure, elevated white blood cells, increased protein level, and decreased glucose level, resulting in a diagnosis of bacterial meningoencephalitis. Treatment with repeated LPs and intrathecal injection of ceftriaxone resulted in an improvement in neurological symptoms. However, on day 31 of treatment, brain magnetic resonance image (MRI) showed streaky bleeding in bilateral cerebellum (zebra sign), leading to a diagnosis of RCH. Close observation and repeated brain MRI imaging without specific treatments led to the absorption of bilateral cerebellar hemorrhage, and the patient was discharged with improved neurological symptoms. Repeated brain MRI scans one month after discharge showed that bilateral cerebellar hemorrhage had improved, and had disappeared one year after discharge. CONCLUSION: We reported a rare occurrence of LPs-induced RCH presenting as isolated bilateral inferior cerebellar hemorrhage. Clinicians should be vigilant of the risk factors for RCH, closely monitoring patients' clinical symptoms and neuroimaging findings to determine the need for specialized treatment. Furthermore, this case highlights the importance of ensuring the safety of LPs and managing any potential complications appropriately.

Síndrome cerebeloso cognitivo afectivo tras cerebelitis aguda / Cerebellar cognitive affective syndrome after acute cerebellitis

En el síndrome cerebeloso, cuya causa principal es la cerebelitis aguda, destacan principalmente las alteraciones motoras, si bien no son las únicas consecuencias de esta patología. Los pacientes que se presentan a continuación manifiestan, además de los signos motores, alteraciones cognitivo-afectivas, como déficit de atención, cambios de personalidad, etc. Esto se denomina síndrome cerebeloso cognitivo afectivo, cuyo diagnóstico es poco habitual a pesar de ser una complicación común. Estos casos llaman a reflexionar sobre la importancia de diagnosticar dicho síndrome para poder administrar un tratamiento adecuado y así mejorar la calidad de vida de los pacientes que lo padezcan (AU)

The most common cause of the cerebellar syndrome is acute cerebellitis. The motor disorders stand out in this syndrome. However, there are other symptoms apart from these. The patients presented below show, besides motor disorders, cognitive affective signs such as attention deficit, personality changes, etc. All these latter manifestations form the cerebellar cognitive affective syndrome. Despite having an uncommon diagnosis, it is a frequent complication. These cases prove the importance of diagnosing this syndrome to enhance the patient’s life quality by providing adequate treatment. (AU)

A presurgical voxel-wise predictive model for cerebellar mutism syndrome in children with posterior fossa tumors.

BACKGROUND: This study aimed to investigate cerebellar mutism syndrome (CMS)-related voxels and build a voxel-wise predictive model for CMS. METHODS: From July 2013 to January 2022, 188 pediatric patients diagnosed with posterior fossa tumor were included in this study, including 38 from a prospective cohort recruited between 2020 and January 2022, and the remaining from a retrospective cohort recruited in July 2013-Aug 2020. The retrospective cohort was divided into the training and validation sets; the prospective cohort served as a prospective validation set. Voxel-based lesion symptoms were assessed to identify voxels related to CMS, and a predictive model was constructed and tested in the validation and prospective validation sets. RESULTS: No significant differences were detected among these three data sets in CMS rate, gender, age, tumor size, tumor consistency, presence of hydrocephalus and paraventricular edema. Voxels related to CMS were mainly located in bilateral superior and inferior cerebellar peduncles and the superior part of the cerebellum. The areas under the curves for the model in the training, validation and prospective validation sets were 0.889, 0.784 and 0.791, respectively. CONCLUSIONS: Superior and inferior cerebellar peduncles and the superior part of the cerebellum were related to CMS, especially the right side, and voxel-based lesion-symptom analysis could provide valuable predictive information before surgery.

Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.

Pontocerebellar hypoplasia type 2D (PCH2D) caused by SEPSECS gene mutations is very rare and only described in a few case reports. In this study, we analyzed the clinical features and imaging findings of these individuals, so as to provide references for the clinic. We reported a case of PCH2D caused by a new complex heterozygote mutation in SEPSECS gene, and reviewed the literatures to summarize the clinical features and imaging findings and compare the differences between early-onset patients (EOPs) and late-onset patients (LOPs). Of 23 PCH2D patients, 19 cases were early-onset and 4 cases were late-onset, with average ages of 4.1 ± 4.0 years and 21.8 ± 9.4 years, females were more prevalent (14/19). EOPs mainly distributed in Arab countries (10/14) and Finland (4/14), while LOPs in East Asia (3/3). EOPs develop severe initial symptoms at the average age of 4.1 ± 7.8 months or shortly after birth, while LOPs experienced mild developmental delay in infancy. Microcephaly (10/11), intellectual disability (10/11), decreased motor function (10/11), and spastic or dystonic quadriplegia (8/10) were the common clinical features of EOPs and LOPs. EOPs also presented with visual impairment (5/7), seizures (4/7), neonatal irritability/opisthotonus (3/7), tremors/myoclonus (3/7), dysmorphic features (3/7), and other symptoms. EOPs were characterized by cerebellar symptoms (4/4). Magnetic resonance imaging (MRI) revealed progressive cerebellar atrophy followed by less pronounced cerebral atrophy, and there was no pons atrophy in LOPs. Most patients of PCH2D were severe early-onset, and a few were late-onset with milder symptoms. EOPs and LOPs shared some common clinical features and MRI findings, but also had their own characteristics.

Cerebellar hemorrhage in a healthy young adult: a case report.

BACKGROUND: Cavernous venous malformation is an uncommon entity that occurs in around 0.5% of the general population. Cerebellar cavernous venous malformation accounts for 1.2-11.8% of intracranial cavernous venous malformation cases. Patients are commonly asymptomatic until a hemorrhage occurs. In approximately 20% of the cases, cavernous venous malformation and developmental venous anomalies occur together, called mixed vascular malformation. Our case report reveals the imaging features of the mixed vascular malformation and highlights the appropriate imaging modality and sequence to detect the abnormalities. CASE PRESENTATION: We report the case of a 15-year-old Malay male, a healthy young male who presented with dizziness, vomiting, and mild headache for 1 month. Computed tomography brain imaging at presentation revealed cerebellar hemorrhage with multiple cavernous venous malformation and coexisting developmental venous anomalies, which was then confirmed by magnetic resonance imaging. The patient was started on dexamethasone 4 mg four times a day, observed in the ward, and discharged well without neurological sequelae. CONCLUSION: A cavernous malformation with concurrent developmental venous anomalies requires accurate diagnosis. Our case report contributes to the literature on the imaging diagnosis of this disease, which is beneficial for current and future reference.