Lesions Of Cerebellar Vermis Research Articles

NIMG-94. A RARE CASE OF INFRATENTORIAL CEREBELLAR VERMIS MULTINODULAR AND VACUOLATING NEURONAL TUMOR

Abstract INTRODUCTION Multinodular and vacuolating neuronal tumor (MVNT) is a rare entity that was first recognized by the World Health Organization Classification of Tumors of the Central Nervous System in 2016. The majority of MVNT cases reported were supratentorial in location and only a small subset of cases included infratentorial involvement. In the supratentorial, MVNT is often a nidus for seizure and surgical resection is for seizure control. Infratentorial MVNT lesions are typically not or only mildly symptomatic; thus, surgical intervention may not be warranted. Here we describe the clinical course of a patient who was found to have a cerebellar vermis lesion that consistent with infratentorial MVNT. CASE REPORT A 41-year-old man sought care due to new onset headache. A brain magnetic resonance imaging (MRI) exam revealed a coalescence of bubble-like cystic lesions in the cerebellar vermis that were T1 hypointense, T2/Flair hyperintense without contrast enhancement. Initially, the lesions were attributed to neurocysticercosis but work-up was not supporting the diagnosis. MRA of head and neck found no cerebral stenosis or vascular malformation. The unique MRI features support infratentorial MVNT diagnosis. Disease course, work-up and MRI features are not consistent with low grade glioma, subacute ischemia infarct, demyelinating disease or chronic fungal or parasite infection. Brain MRI surveillance has completed every 6 months; no interval change to the cerebellar vermis lesions has been seen over past two years. Clinically, the patient has been doing well and his headache has resolved. DISCUSSION MRI features of MVNT are predominantly mixed solid and cystic, bubble-like, T2/Flair-hyperintense, T1 hypointense lesions in the deep cortical region and superficial white matter without contrast enhancement. This case demonstrates that although no specific criteria to diagnose MVNT, neurologists and neuro-oncologists should be aware of the distinguishing radiographic features, which can help patients avoid unnecessary testing and potentially harmful interventions.

Redefining a Rare CNS Tumour Through Targeted Genetic Sequencing

Abstract AIMS Isolated cerebellar vermis lesions in adults is a rare location and entity with few literature case reports detailing gangliogliomas and gangliocytomas. Using targeted genetic sequencing, traditional histological diagnosis can be refined further, with a clear impact on prognosis as well as possible genetic counselling implications. METHOD A single case of cerebellar vermis lesion, identified incidentally through imaging of a neck nodule, with subtle features of ataxia and mild impairment of initiation of speech. Sub-total resection of lesion underwent standard histopathological work-up, followed by targeted genetic sequencing to obtain an integrated diagnosis. RESULTS Histological assessment identified atypical ganglion cells labelled with Synaptophysin on immunohistochemistry. Features closely resembled dysplastic cerebellar gangliocytoma (Lhermitte-Duclos Disease). Further targeted sequencing showed no evidence of IDH1, IDH2, TERT promoter, or histone mutation, however, BRAF mutation was present, supporting an alternate diagnosis of ganglioglioma. CONCLUSION Precision medicine is facilitated with advanced diagnostic techniques. This redefines categorisation of some CNS tumours, particularly rare entities. Techniques are especially valuable to individual patient management as they can have a direct impact on aspects of clinical work-up, prognosis, follow-up, and in some cases, genetic counselling.

Cerebellar vermis lesions and tumours of the fourth ventricle in patients with positional and positioning vertigo and nystagmus

Positional and positioning vertigo and nystagmus syndromes are usually due to peripheral vestibular dysfunction. The most common form is benign paroxysmal positioning. In this paper, we discuss more serious aetiologies in the differential diagnosis for patients presenting with a history suggestive of benign paroxysmal positioning vertigo. We draw attention to the diagnosis of cerebellar vermis lesions and tumours of the fourth ventricle by presenting two cases of patients with positional nystagmus of so called benign paroxysmal type. We review the literature on positional nystagmus, highlighting key findings on history and physical examination to aid in the correct diagnosis of benign paroxysmal positioning vertigo, and to differentiate it from the rare yet sinister central aetiologies that can present with positional vertigo of the benign positional type. This is with the aim to avoid over-investigating a common presentation without missing a serious diagnosis.

Behavioral and affective changes in children and adolescents with chronic cerebellar lesions

The aim of the present study was to investigate if clinically relevant affective or behavioral changes as described in adults in the cerebellar affective syndrome by Schmahmann and Sherman [The cerebellar cognitive affective syndrome, Brain 121 (1998) 561–579] are likely to occur as a long-term sequelae of cerebellar vermis lesions in children. Site and extent of the vermal lesion were defined on the basis of individual 3D-MRI scans and lesion data were correlated with behavioral and affective changes. Affect and behavior were assessed in children after cerebellar tumor surgery by means of experimenter ratings based on the description of the cerebellar affective syndrome and free ratings by the patients and their parents. Twelve children and adolescents with a former cerebellar astrocytoma surgery without subsequent radiation or chemotherapy participated. Detailed analysis of individual 3D-MR images revealed that lesions affected the vermis in nine children. Experimenter ratings according to Schmahmann revealed no relevant problems in patients. In five out of nine patients with vermal affection somewhat increased thoughtful, anxious or aggressive behavior was reported by patients and parents. In conclusion, minor behavioral and affective changes were present in a subset of children with chronic vermal lesions.

Positional Nystagmus of Benign Paroxysmal Type (BPPN) Due to Cerebellar Vermis Lesions:Pseudo-BPPN

Positioning nystagmus accompanied by severe vertigo has been reported in patients with partial lesions of the inner ear, especially otolith lesions. Typically, this type of nystagmus shows a latent period and subsequent fatiguability. We concur with this finding and have constantly emphasized the significance of this phenomenon in clinical diagnosis. Since we started using CT-scanning, this type of nystagmus has been noted in 47 patients, all of whom had cerebellar vermis lesions. Attention should be focused on this association; if such a combination were seen in only 1 or 2 patients, it could simply be attributed to coincidence. But its occurrence in as many as 47 patients indicates a causal role of cerebellar vermis lesions. Its mechanism may be explained by incomplete inhibition of the vestibulo-oculomotor system including the cerebellar flocculonodular lobe or vestibulo-cerebellum.

Positional Nystagmus of Benign Paroxysmal Type (BPPN) due to Cerebellar Vermis Lesions. Pseudo-BPPN

Positioning nystagmus accompanied by severe vertigo had been reported in patients with partial lesions of the inner ear, especially otolith lesions. Typically this type of nystagmus represents a latent period and subsequent fatiguability. We concur with this finding and have constantly emphasized the significance of this phenomenon in clinical diagnosis. Since we started to use CT-scanning, this type of nystagmus has been noted in 20 patients, all of whom had cerebellar vermis lesions. Attention should be focused on this association. A simple coincidence could not be excluded if such a combination were seen in only 1 or 2 patients, it could be attributed to simple coincidence. But its occurrence in as many as 20 patients a causal role of cerebellar vermis lesions. Its mechanism may be explained by incomplete inhibition of the vestibulo-oculomotor system including the cerebellar flocculonodular lobe or vestiburo-cerebellum.

小脳虫部障害に起因する一過性・逆向性・反対回旋性頭位変換眼振

Positioning nystagmus with a latent period, accompanied by severe vertigo along with nystagmus, with subsequent fatiguability has been reported in patients with partial lesions of the inner ear, especially otolith lesions. We agree with this opinion and have constantly emphasized the significance of this phenomenon in clinical diagnosis.Since we started to use CT-scanning this type of nystagmus has been noted in 20 patients, all of whom had cerebellar vermis lesions. Attention should be focused on this association. A simple coincidence could not be excluded if such a combination were seen in only 1 or 2 patients, but its occurrence in as many as 20 patients suggests a causal role of cerebellar vermis lesions. The explanation may be incomplete inhibition of the vestibulo-oculomotor system by the cerebellar flocculo-nodular lobe or vestibulocerebellum.

A case of left-sided cerebellar-pontine angle gliobla-stoma multiforme with cerebellar gaze nystagmus and an irregular mixed nystagmus

The patient was well until Feburary 1971, four months before admission when, at the age of 22, he noted abruptly the onset of dizziness, headache and diplopia. During the four months before admission, he experienced unsteadiness of gait, left sided sudden deafness, difficulty in swallowing, thick speech, urinary hesitancy, papilledema and a lack of co-ordination. Examination of the cranial nerves showed diminished left sided facial sensation including an absent left corneal reflex, left lateral rectus palsy, left facial palsy, left sided deafness, absent caloric response on the left side, left glossopharyngeal palsy and vagal palsy.At the time of the first surgery June 19, 1971, an egg-sized tumor was extirpated, (left sided cerbellarpontine angle) and the diagnosis of glioblastoma multiforme was made. Treatment with Co60 irradiation was initiated after the surgery, the patient was improving satisfactorily and was discharged on August 28, 1971. Subsequently he has been re-admitted twice.At the time of the second surgery November 2, 1972, atrophy of the left cerebellum was most evident.In the neuro-otological examinations of this patient, Bruns-Cushing type nystagmus was observed on admission June, 1971 and two months later the nystagmus changed to pendular nystagmus on leftward gaze. At the time of second surgery November 2, 1972, gaze nystagmus, like congenital nystagmus, spontaneous horizontal nystagmus to left side, and an irregular-mixed nystagmus in Frenzel glasses were observed. While the gaze nystagmus was thought to be associated with atrophy of the left cerebellum, as there were signs of tremor of eyeballs to the left gaze, spontaneous horizontal nystagmus to the left ceasing with eye closure or, in Frenzel glasses, and cerebellar findings of eye tracking and optokinetic tests, an irregullar-mixed nystagmus was probably mainly related to vestibular nuclei occurring with eyes closed or, in Frenzel glasses and from the clinical appearance. This vertical nystagmus was also thought to be related to lesions of cerebellar vermis, as the nystagmus was influenced by changes in the position of the head.