Bilateral Cerebellar Hemispheres Research Articles

X-Linked Intellectual Disability, A Novel KDM5C Variation: A Case Report

Introduction: The Lysine Demethylase 5C gene (KDM5C), located at 11p22, is a crucial gene implicated in X-linked intellectual disability (ID), also known as Claes Jensen syndrome. Mutations in the KDM5C gene can negatively impact H3K4me2/3 modifications, leading to a significant reduction in brain-derived neurotrophic factor (BDNF) and sodium voltage-gated channel alpha subunit 2 (SCN2A), which are associated with both autistic spectrum disorder (ASD) and cognitive impairment. Case Presentation: This study presents a novel KDM5C mutation [rs1569278313, Xp.11.22 (GRCh37); c.807delC exon7/25; Pro269fs], a frameshift deletion at the N terminus in exon 7, in a 7-year-old boy with a history of hypothyroidism and left-hand polydactyly. The primary complaints included seizures, short stature, speech difficulties, restlessness, gait problems, and ID. A brain computerized tomography (CT) scan was normal, while magnetic resonance imaging (MRI) revealed bilateral cerebellar hemisphere atrophy. Multifocal epileptic discharges were observed in the electroencephalogram (EEG), and the auditory brainstem response (ABR) was unremarkable. whole exome sequencing (WES) identified a pathogenic frameshift deletion in the KDM5C gene. Conclusions: This case features a frameshift deletion in exon 7 of the KDM5C gene, manifesting as a syndromic face, short stature, and global developmental delay. Additionally, we discuss the rare KDM5C syndromic features in this patient, providing valuable insight into the pathogenicity and clinical implications of this mutation.

Successful Recanalization by Mechanical Thrombectomy in a Child with Arterial Thrombotic Stroke Involving Posterior Circulation: A Case Report with Review of the Literature

Background: Mechanical thrombectomy (MT) for arterial ischemic stroke, although established in adults, is not endorsed routinely for children. The procedure is even rare in children with stroke involving posterior circulation. Here we describe, a child with ischemic stroke due to thrombotic occlusion in the posterior circulation, which was successfully treated with MT. Clinical Description: A 12-year-old boy presented with sudden-onset vertigo, imbalance, slurring of speech, inability to stand, associated with headache and vomiting for 8 hours, without any associated fever, trauma, or seizures. On initial examination, his National Institute of Health Stroke Scale (NIHSS) score was 8. Other systems were within normal limits and there was no cutaneous rash. Management and Outcome: Investigations revealed a normal complete hemogram, lipid profile, serum homocysteine, fibrinogen, and D-dimer levels along with a normal hemoglobin electrophoresis profile. The electrocardiography, two-dimensional echocardiography were normal and even antinuclear antibodies, antiphospholipid antibodies were negative. Magnetic resonance imaging (MRI) of the brain demonstrated multiple acute infarcts in bilateral cerebellar hemispheres, pons, and right anterior thalamus. Noncontrast MR angiography (MRA) of the head and digital subtraction angiography showed distal basilar artery cutoff and right vertebral artery dominance. As the NIHSS score worsened to 10, a MT with solitaire was done (after 12 hours of onset of symptoms), and reperfusion was achieved in two passes. The child showed remarkable improvement in NIHSS score to 2 by 5 days. At discharge, the child had residual mild ataxia. Despite investigations, the cause of thrombosis remained unknown. Conclusion: Our case highlights that in case of significant large arterial occlusion with rapid worsening of symptoms, MT may be considered, even if it involves posterior circulation, and the child presents beyond the usual window of 4–6 hours.

Idiopathic hypertrophic pachymeningitis: Features of 9 patients and a literature review

Introduction: Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder presenting with headache, cranial and spinal neuropathy. This study is to explore the clinical, laboratory and imaging changes; treatment; and clinical outcomes of idiopathic hypertrophic pachymeningitis (IHP). Methods: This was a retrospective evaluation of 9 patients (5 men and 4 women; mean age: 53.6 years), their clinical features, laboratory tests, cerebral spinal fluid (CSF) analysis, MRI results, pathological features, treatment and clinical outcomes from a tertiary centre in Qingdao, North East China. The serum IgG4 was negative for all the cases. Results: Headache was the most common symptom (7/9), followed by oculomotor, trigeminal, abducens and facial nerve neuropathies, and limb numbness in one case. Two cases showed increased ESR and CRP, and four were positive for ANA or anti-SSA antibodies. On CSF analysis, 2/7 had increased pressure, and 4/7 showed lymphocytosis and high protein levels. MRI revealed a thickening and enhancement of the dura, mainly involving bilateral tentorium (85%), falx cerebri (57%), and cerebellar hemisphere (57%). The tissue biopsy of dura mater in three cases showed thickened collagen fibers, lymphocytosis and focal necrosis, with similar but not identical features to IgG4-related sclerosing disease. Most patients were treated with corticosteroids, and 79% showed improvement. The abnormal thickness and enhancement of the dura mater disappeared in one case. Conclusion: Gadolinium-enhanced MRI serves as the key preliminary investigation for the diagnosis and evaluation of the clinical course for IHP. Majority of patients have good respond to steroid.

An Unusual Presentation of Squamous Cell Carcinoma in a Never Smoker: A Case Report

Lung Cancer is one of the most common types of cancer found among smokers. However, approximately 10% of lung cancer patients are non-smokers. Non-smokers are frequently seen developing Adenocarcinoma, a type of non-small cell carcinoma with a female predominance. The incidence of Squamous cell carcinoma among non-smokers is very low. Moreover, studies have shown that tetra site metastasis in the case of Squamous cell carcinoma of the lung is almost as rare as 0.6% [1]. The authors report here in this article a case report of a rare and aggressive presentation of Squamous cell carcinoma in a non-smoker. This is a case of a 50-year-old male patient who is a non-smoker, presented with complaints of exertional dyspnoea and cough with expectoration for 3 months which had aggravated since 15 days, associated with hoarseness of voice and diffuse headache since 15 days. There was a history of significant weight loss and loss of appetite for 3 months. CECT thorax revealed a heterogeneously enhancing mass lesion in the anterior segment of the left upper lobe encasing the left pulmonary artery with evidence of liver, adrenal and vertebral metastasis. During the hospital stay, the patient developed complete ptosis of the right eye. MRI brain was done which showed features suggestive of metastasis involving bilateral cerebral and cerebellar hemispheres. USG guided lung biopsy was done and was suggestive of moderately differentiated Squamous cell carcinoma. The patient was planned to be further worked up for IHC markers and PET CT scan to determine the further line of treatment however, unfortunately, the patient succumbed to the disease within 1 week of histopathological diagnosis.

A case of suspected vertebral artery stump syndrome assessed by CT angiography

A 55-year-old man developed ischemic stroke in the bilateral cerebellar hemispheres and bilateral occipital lobes. He was admitted to our hospital 17 months later with recurrent ischemic stroke in the posterior circulation. The left vertebral artery (VA) was occluded on brain magnetic resonance angiography but was visualized with a delay on continuous three-phase CT angiography (CTA). Conventional angiography confirmed a to-and-fro blood flow pattern at the distal end of the left VA, therefore the patient was diagnosed with VA stump syndrome (VASS). VASS is a recurrent posterior circulation ischemic stroke caused by thrombi in an occluded unilateral VA. VASS should be suspected in patients with unilateral VA occlusion and repeated posterior-circulation ischemic stroke. The diagnostic criteria for VASS include confirmation of VA occlusion and the presence of an antegrade flow component at the distal end. In this case, the presence of collateral circulation in the VA was suspected based on CTA findings, leading to the diagnosis of VASS. It was thus suggested that devising the imaging method of CTA may help diagnose VASS.

A Case of Toxic Optic Neuropathy

ABSTRACT A 28-year-old male arrived in our Ophthalmology Out patient department (OPD) with a chief complaint of bilateral sudden loss of vision in both his eyes of three days’ duration and a history of consumption of 90 mL of alcohol five days prior to the onset of symptoms. An ophthalmic examination revealed no perception of light in both eyes. Both pupils were dilated and sluggishly reacting to light. His fundus examination showed bilateral, hyperemic, and edematous discs. The veins around the disc were mildly dilated and tortuous. Magnetic resonance imaging (MRI) brain showed symmetrical hyperintensities and hemorrhages in bilateral gangliocapsular regions and signal abnormalities areas in bilateral cerebellar hemispheres, posterior part of cerebellar vermis, bilateral cingulate gyrus showing diffusion restriction which was suggestive of toxic encephalopathy and toxic neuropathy. Fundus fluorescein angiography was also done for the patient, which showed optic disc staining in the late phase suggestive of optic neuropathy. His vision improved to 20/200 in both eyes with treatment after two months.

Morphological changes in the cerebellum during aging: evidence from convolutional neural networks and shape analysis.

The morphology and function of the cerebellum are associated with various developmental disorders and healthy aging. Changes in cerebellar morphology during the aging process have been extensively investigated, with most studies focusing on changes in cerebellar regional volume. The volumetric method has been used to quantitatively demonstrate the decrease in the cerebellar volume with age, but it has certain limitations in visually presenting the morphological changes of cerebellar atrophy from a three-dimensional perspective. Thus, we comprehensively described cerebellar morphological changes during aging through volume measurements of subregions and shape analysis. This study included 553 healthy participants aged 20-80 years. A novel cerebellar localized segmentation algorithm based on convolutional neural networks was utilized to analyze the volume of subregions, followed by shape analysis for localized atrophy assessment based on the cerebellar thickness. The results indicated that out of the 28 subregions in the absolute volume of the cerebellum, 15 exhibited significant aging trends, and 16 exhibited significant sex differences. Regarding the analysis of relative volume, only 11 out of the 28 subregions of the cerebellum exhibited significant aging trends, and 4 exhibited significant sex differences. The results of the shape analysis revealed region-specific atrophy of the cerebellum with increasing age. Regions displaying more significant atrophy were predominantly located in the vermis, the lateral portions of bilateral cerebellar hemispheres, lobules I-III, and the medial portions of the posterior lobe. This atrophy differed between sexes. Men exhibited slightly more severe atrophy than women in most of the cerebellar regions. Our study provides a comprehensive perspective for observing cerebellar atrophy during the aging process.

Clinical features and imaging manifestations for intravascular large B-cell lymphoma.

Intravascular large B-cell lymphomas are a rare group of extranodal non-Hodgkin's lymphomas with no apparent specificity of symptoms and often a poor prognosis. This study aims to investigate the clinical features and imaging manifestations of intravascular large B-cell lymphoma, to improve the awareness of clinicians and imaging physicians and to reduce the underdiagnosis and misdiagnosis of this disease. Five patients with pathologically confirmed intravascular large B-cell lymphoma diagnosed between December 2011 and February 2022 at Xiangya Hospital of Central South University were retrospectively analyzed for clinical features and imaging manifestations. The age range for the 5 patients in this paper was 44-72 years at an average of (55.4±11.2) years, 2 were male and 3 were female. There were 4 patients with fever, 3 patients with cough, 3 patients with fatigue, and 2 patients with neurological symptoms. The primary sites of lesions were bilateral adrenal glands (2 cases), liver (1 case), central nervous system (1 case), lung (1 case). Imaging of the corresponding site was performed in 5 cases. When the primary site is the adrenal gland, it appears as bilateral adrenal masses or bilateral adrenal thickening with clear contours. When the primary site is the liver, it appears as a hypodense lesion in the right lobe of the liver with "vascular floating sign". When the primary site is the central nervous system, it appears as multiple tumor-like lesions in the frontal-parietal-occipital lobe, right temporal lobe and bilateral cerebellar hemispheres with multiple hemorrhages within the lesions. When the primary site is the lung, it appears as multiple ground glass shadows and solid changes in both lungs with localized lobular septal thickening. The final pathological diagnosis was intravascular large B-cell lymphoma in all 5 patients, one of whom had a good prognosis after chemotherapy, 2 of whom died within 3 days of discharge, and two of whom were lost to follow-up. Intravascular large B-cell lymphoma can involve multiple tissues and organs, and its prognosis is often poor, and its imaging manifestations possess certain specificity. When this disease is highly suspected, a biopsy of the corresponding organ should be performed as soon as possible to clarify the diagnosis.

Abnormal Local Brain Activity and Cognitive Impairments in Young Non-Disabled Patients With Intracerebral Hemorrhage: A Resting-State Functional MRI Study.

Resting-state functional MRI (rs-fMRI) has identified static changes of local brain activity among patients with intracerebral hemorrhage (ICH). However, the dynamic and concordance-related characteristics of brain activity remain unclear. To investigate static, dynamic, and concordance-related features of the regional brain activity of young non-disabled ICH patients. Prospective. Thirty-three ICH patients (modified Rankin Scale score ≤2, 21% female, 46.36 ± 6.53) and 33 matched healthy controls (HCs) (21% female, 47.64 ± 6.16). 3-T, rs-fMRI using gradient echo-planar imaging, T1-weighted imaging. Neuropsychological and rs-fMRI data were acquired from all participants. Amplitude of low-frequency fluctuations (ALFF), fractional ALFF (fALFF), regional homogeneity (ReHo), voxel-mirrored homotopic connectivity, global signal correlation (GSCorr) and degree centrality (DC), and their dynamic and concordance-related changes with sliding window analysis were calculated based on rs-fMRI data at a whole-brain level. The burden of cerebral small vascular diseases (cSVD) was assessed by cSVD scores. All hemorrhage lesions were delineated on normalized T1 images. Multiple regression models, a voxel-level uncorrected P < 0.001, a cluster-level false discovery rate (FDR) corrected q < 0.05, a re-corrected qFDR <0.05 were considered significant. Pearson or Spearman correlation analyses between fMRI data and neurocognitive performance were performed. Compared to HCs, ICH patients showed significant abnormal changes of ALFF, dynamic ALFF, fALFF, ReHo, dynamic ReHo, GSCorr, DC, and voxel-wise concordance in multiple brain regions mainly including the bilateral cerebellar hemispheres, ipsilesional thalamus, and bilateral middle cingulum gyrus. The ALFF in the cerebellar posterior lobe and thalamus were significantly associated with attention (r = -0.481) and executive function (rho = -0.521) in ICH patients. Young non-disabled ICH patients exhibit static, dynamic, and concordance-related alterations of local brain activity, part of which shows associations with cognitive functions.These findings may help comprehensively understand the mechanism of cognitive impairment after ICH. 2 TECHNICAL EFFICACY: Stage 3.

Abstract 106: CHANTER Syndrome: A Case Report Of A 59 Year Old Man With Positive Outcome

Introduction Cerebellar, Hippocampal, and Basal Nuclei Transient Edema with Restricted Diffusion (CHANTER) syndrome was first described in 2019 [1] as a pattern of radiographic findings that are distinct from ischemic, anoxic, or toxic brain injury. Pathophysiology is still uncertain, but some proposed theories include a primary metabolic etiology or a mitochondrial failure of gray matter. Clinically, patients typically present with altered level of consciousness. Radiographically, diffusion weighted imaging shows restriction in the bilateral hippocampi, bilateral cerebelli, and basal nuclei. The cerebral cortex, thalamus, and subcortical white matter are usually spared. Despite the morbid clinical picture on presenation, positive outcomes were reported with early intervention. We describe a case of CHANTER syndrome in a 59 year old man with history of illicit substance abuse. Methods Case report with electronic medical record review. Results 59‐year‐old man with history of illicit substance abuse including cocaine, opioid, and phencyclidine presented to the hospital after being found down at a drug store. Patient did not respond to Naloxone and was eventually intubated due to respiratory compromise. Non‐contrast CT head showed hypoattenuation of the bilateral cerebellar hemispheres with mild effacement of the fourth ventricle. MRI brain showed diffusion signal abnormalities with corresponding T2 FLAIR hyperintensities in the bilateral cerebellar hemispheres, bilateral hippocampi, and bilateral basal ganglia with some involvement of the left occipital lobe suggestive of CHANTER syndrome. As vasogenic edema worsened, hydrocephalus ensued requiring administration of hypertonic saline and eventual external ventricular drain (EVD) insertion in the neurocritical care unit. Despite initial improvement in his level of consciousness after the EVD insertion, his intracranial pressure (ICP) continued to increase and midazolam and ketamine infusion drips were added. A fine balance between lowering the ICP and avoiding respiratory suppresion with sedating infusions was maintained. Consecutive MRI brain images over the course of the following 4 weeks of his stay showed decrease of the abnormal diffusion weighted imaging signal along with improvement in his overall mental status and eventual discharge 12 weeks from his initial presentation. Conclusion This case further strengthens the relationship between CHANTER syndrome and illicit substance use as a likely etiology along with other cases in the literature. Aggressive management in the neurocritical care to control vasogenic edema and avoid ICP elevation is essential to give patients the highest chance of recovery. Clinical improvement At least partial reversal of the radiographic findings of CHANTER syndrome can be attained with treatment, however, unclear if complete reversal is possible.

Abstract 164: Chronic Total Occlusion of the Bilateral Internal Carotid Arteries, Vertebral Arteries and Basilar Artery

Introduction Bilateral internal carotid arteries (ICAs), vertebral arteries (VAs), and basilar artery chronic total occlusion is an exceedingly rare condition. Possible underlying etiologies include atherosclerosis, Moyamoya disease, dissection, among others. Methods Here we describe a 58‐year‐old man with chronic total occlusion of the bilateral ICAs, VAs and basilar artery of unknown etiology. Results A 58‐year‐old man who is independent for ADLs/iADLs with a history of prior ischemic strokes (first stroke at 40 years old) with residual left‐sided weakness and dysarthria, hypertension, hyperlipidemia, prior blood clots (previously on warfarin), post‐stroke epilepsy, and never smoker presented as a code stroke to the emergency department after waking that morning with worsening of his residual left‐sided weakness and dysarthria. On arrival, blood pressure was 165/94 mmHg and blood glucose was 108 mg/dL. His NIHSS was 6. His neurologic exam was grossly similar to that documented 19 months ago. In the CT scanner, he developed tonic‐clonic movements of the left arm and leg, confusion, and emesis. Later, he stated he had missed several doses of his prescribed levetiracetam. Head CT and brain MRI revealed encephalomalacia in the brainstem and bilateral cerebellar and cerebral hemispheres. Brain MRI did not demonstrate any diffusion restriction changes. CTA showed chronic occlusion of both ICAs (proximal, distal, and terminus), M1s, VAs (V4 segment), and basilar artery. CTA also revealed that the brain parenchyma was being perfused by collaterals between the external carotid artery (ECA) branches, superficial temporal artery, and M2 branches bilaterally and the bilateral posterior circulation arteries were small and reformed through collaterals. CTP showed a core and penumbra volumes of 0 mL. His presentation was consistent with a seizure. He was admitted to the stroke service for work‐up of his abnormal brain vasculature. Catheter angiography confirmed the CTA results demonstrating occluded bilateral cervical and intracranial segments of the ICAs, collaterals from bilateral ECA branches supplying the intracranial circulation, right VA occlusion distal to the right PICA, and left VA occlusion distal to the V3 segment. Remaining work‐up including A1c, LDL, urine drug screen, EKG, transthoracic echocardiogram, and telemetry was unrevealing other than for an LDL of 152. Routine EEG showed moderate generalized showing. During hospitalization, his home amlodipine and losartan medications were discontinued with the goal of maintaining a blood pressure target of 140‐160 systolic indefinitely, to minimize the risk of hypoperfusion cerebrally. Give his robust collaterals, surgical treatment with revascularization was not pursued. His home aspirin and rosuvastatin 40 mg daily were continued and ezetimibe 10 mg daily was added. His home levetiracetam was increased from 500 to 750 mg twice daily given recent unprovoked seizures at home. He was discharged to an inpatient rehabilitation facility. Conclusion To our knowledge, this is the first case report to show chronic total occlusion of the bilateral ICAs, VAs, and basilar artery. Diagnosis of Moyamoya disease stage VI ("disappearance of the Moyamoya") was entertained but felt to be less likely given involvement of the proximal ICAs and posterior circulation. Other diagnostic consideration included atherosclerosis. Overall, the underlying etiology of his condition remained elusive.

52 Stable Cognitive Impairment and Increased Psychiatric Symptoms in a Patient with Neuropathologically Progressive Fahr’s Disease After 2-Year Repeated Neuropsychological Assessment

Objective:Fahr’s disease is a rare genetic neurological disorder characterized by abnormal idiopathic calcification of the basal ganglia, typically with extrapyramidal symptoms, speech difficulty, behavioral disturbances, and progressive neurologic dysfunction. A small number of case reports have explored the neuropsychological profile of Fahr’s disease patients, and even fewer have followed the course of neuropsychological functioning over time.Participants and Methods:A 53-year-old Asian woman presented for a neuropsychological reevaluation (2021) after experiencing a recurrence of memory difficulties and mood changes. Relevant medical history was significant for systemic lupus erythematosus (SLE) and Fahr’s disease. Following an episode of acute confusion, the patient underwent a head CT (2019) which revealed extensive calcification throughout the cerebellum, central pons, and periventricular and subcortical white matter, suggestive of Fahr’s disease. Two months later, she underwent an initial neuropsychological evaluation (2019), which demonstrated prominent attention and processing speed deficits contributing to variably impaired new learning and memory along with spatial planning and problem-solving difficulties. The etiology of her cognitive deficits was determined to likely reflect metabolic and immune instability, consistent with her history of SLE and Fahr’s disease. An updated CT (2021) revealed increased calcification throughout the bilateral corona radiata, basal ganglia, cerebellar hemispheres, and midbrain, which was determined to be compatible with progressive Fahr’s disease.Results:The patient’s neurocognitive profile from current neuropsychological testing (2021) was marked by notable deficits in attention and processing speed, delayed memory, problem solving, visuospatial reasoning, and motor dexterity. Compared to her initial evaluation, her cognitive profile remained stable save for a slight decline in processing speed. The largest change was seen within the psychiatric domain. Self-reported depressive symptoms involving anhedonia, concentration difficulties, and anxiety symptoms involving nervousness and tension were more pronounced in her current evaluation. In addition, she endorsed an increase in apathy compared to her initial evaluation.Conclusions:The cognitive profile seen in this patient is consistent with the current literature relating to the clinical sequelae of Fahr’s disease in patients that eventually went on to develop dementia. Despite an increase in brain calcification seen on CT imaging over an 18-month interval, the patient’s neurocognitive profile remained relatively stable. An increase in psychiatric symptoms appeared to be the most prominent change over repeated neuropsychological assessment, which elucidates the heterogenous course of Fahr’s disease from a neuropsychological perspective. Further exploration of this disorder is warranted to better understand the clinical progression of symptoms over time.

Distinct changes in global brain synchronization in different motor subtypes of Parkinson's disease.

This study investigated alterations in degree centrality (DC) in different motor subtypes of Parkinson's disease (PD) and analyzed its clinical significance during disease occurrence. A total of 146 subjects were recruited in the study, including 90 patients with PD [51 and 39 with tremor dominant (TD) and akinetic-rigid dominant (ARD) disease, respectively] and 56 healthy controls (HCs). The resting-state functional magnetic resonance imaging data of all the subjects were obtained by 3.0 T magnetic resonance scans. The DC values, an indicator of whole brain synchronization, were calculated and compared among the TD, ARD, and HC groups. Disparities in DC values among the three groups were evaluated by analysis of variance and post hoc two-sample t-tests. Correlation between brain regions with DC differences and clinical variables were performed using partial correlation analysis after controlling for age, gender, and disease duration. Compared to the HCs, both TD and ARD groups demonstrated increased DC values bilaterally in the cerebellum; DC values were decreased in the left putamen and paracentral lobule in the TD group and in the left anterior cingulate gyrus and right supplementary motor area in the ARD group. Compared to the ARD group, the TD group showed decreased DC values in bilateral cerebellar hemispheres and increased DC values in the left anterior cingulate gyrus and right supplementary motor area. The DC of the whole brain showed inconsistencies and shared neural bases among patients with the two subtypes of PD. The differences between brain regions with abnormal DC values may be closely related to different clinical presentations of the two motor subtypes. Our findings provide new insights into the clinical heterogeneity of PD with respect to different motor subtypes.

A - 114 Long Term Cognitive Sequela of Intracranial Radiation Therapy in a Pediatric Cerebellar Medulloblastoma Survivor.

Intracranial radiation therapy (IRT) for pediatric brain tumors is associated with late delayed brain injury due to cerebrovascular abnormality, white matter necrosis, demyelination, and gliosis which are irreversible. As a result, persistent cognitive deficits in adulthood emerge which are aggravated by younger age at diagnosis, higher radiation dose, whole brain radiation (WBR), and concurrent chemotherapy. The case is a childhood brain tumor survivor seen 18years post treatment who displayed cognitive deficits reflecting the cognitive sequela of WBR that overlapped with the anatomical distribution of white matter damage sustained. 23-year-old Black male with a history of childhood cerebellar medulloblastoma diagnosed at age 4, tumor resection, WBR, chemotherapy, more recent seizure disorder and medullary stroke, diabetes, and hypertension was seen for a neuropsychological evaluation due to memory complaints. His neuroimaging showed white matter hyperintensities in bilateral temporal and occipital lobes, bilateral cerebellar hemispheres, bilateral frontal lobes, medial posterior right cerebellar cyst, and 10 x 5mm cyst in the left temporal lobe. Results showed FSIQ = 59 and deficits in language, processing speed, visuospatial abilities, executive functioning, and verbal memory. His auditory working memory and visual memory were preserved. Based on his numerous adaptive limitations, moderate intellectual development disorder diagnosis was given. Deficits across several cognitive domains were consistent with multi-focal white matter lesions seen in patient's neuroimaging which reflect radiographic findings related to long-term sequela of previous intracranial radiation. A unique finding was relatively preserved visual memory as findings related to asymmetrical memory dysfunction in childhood medulloblastoma survivors are scarce.

Analysis of CT and MRI Manifestations of Joubert Syndrome.

To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS). In this retrospective analysis, we investigated the clinical and imaging characteristics of JS in a cohort of twelve pediatric patients with confirmed diagnoses. Specifically, we analyzed both computed tomography (CT) and magnetic resonance imaging (MRI) manifestations in this population. CTs were performed on four patients and MRIs were performed on twelve, respectively. JS is characterized by specific CT and MRI findings, including midline fissure, batwing, or triangular formations of the fourth ventricle between the bilateral cerebellar hemispheres, and molar sign at the midbrain level. All twelve cases in this cohort exhibited these traits, along with other cerebral abnormalities, such as dysplasia of the corpus callosum in two cases, gray matter heterotopia in one case, and occipital meningocele in one case. JS has distinctive CT and MRI characteristics that can be clinically identified.

Systemic lupus erythematosus with Fahr’s syndrome: A case report with review of literature

Systemic lupus erythematosus (SLE) is a multisystem disease with autoimmune etiology. The neurological manifestations of lupus are diverse. We introduce a case of a 40-year-old male who presented with constitutional symptoms like low-grade fever, myalgia, and easy fatigability for one month. On examination, he had icterus, hepatosplenomegaly, and spasticity. Lab tests were suggestive of autoimmune hemolytic anemia with ANA positivity and low complements. Diagnosis of SLE was certain. CT brain showed bilateral symmetrical dense radial and punctate calcifications involving bilateral cerebral and cerebellar hemispheres suggestive of Fahr’s syndrome.

Application study of DTI combined with ASL in the crossed cerebellar diaschisis after subacute cerebral hemorrhage.

To study the value of 3.0T magnetic resonance imaging with diffusion tensor imaging (DTI) and 3D-arterial spin labeling (ASL) perfusion imaging in the diagnosis of the crossed cerebellar diaschisis (CCD) after the unilateral supratentorial subacute cerebral hemorrhage. Fifty-eight patients with the unilateral supratentorial subacute cerebral hemorrhage who underwent diffusion tensor imaging (DTI), 3D-arterial spin labeling (ASL), and conventional magnetic resonance imaging (MRI) scanning were enrolled. Cerebral blood flow (CBF) values of the perihematomal edema (PHE) and bilateral cerebellar hemisphere were measured on ASL mapping, and the fractional anisotropy (FA) and mean diffusivity (MD) values of the bilateral cortical, pontine, and middle cerebellar peduncle (MCP) were measured on DTI mapping. In the CCD(+) group, FA values of the cerebral cortex and pontine ipsilateral to the lesion were statistically reduced compared to the contralateral side (P < 0.05), and the FA and MD values of the middle cerebellar peduncle (MCP) contralateral to the lesion were statistically reduced compared to the ipsilateral side (P < 0.05). Positive correlation was detected between the CBF values of the perihematomal edema (PHE) and the CBF values of cerebellar hemispheres (r = 0.642, P < 0.05), whereas the CBF values of PHE had a significantly high positive correlation with the FA in the contralateral MCP (r = 0.854, P < 0.05). CBF values in the contralateral cerebellar hemisphere correlated with FA (r = 0.466, P < 0.05) and MD values (r = 0.718, P < 0.05) in the contralateral MCP. Hemodynamic alterations of PHE and cortical-ponts-cerebellum (CPC) fibrous pathway damage are associated with the development of CCD; DTI technique can assess the degree of CPC fiber pathway injury at an early stage.

Rapidly Resolving Orbital Pseudotumor in Systemic Lupus Erythematosus

Rapidly Resolving Orbital Pseudotumor in Systemic Lupus Erythematosus

Cerebellar Hippocampal and Basal Nuclei Transient Edema with Restricted Diffusion (CHANTER): A Case Report with Literature Review (P9-7.004)

<h3>Objective:</h3> To review the clinical presentation and imaging findings of a 64-year-old patient with CHANTER syndrome. <h3>Background:</h3> Cerebellar hippocampal and basal nuclei transient edema with restricted diffusion (CHANTER) syndrome is a rarely described constellation of neuroradiographic findings in the setting of altered mental status. Patients typically present after being found unresponsive in the setting of polysubstance abuse. While the imaging findings associated with CHANTER (restricted diffusion in the bilateral cerebellum, limbic structures, and corpus striatum) are often harbingers of severe brain injury, a growing number of case reports have shown that patients with this syndrome may demonstrate marked clinical improvement over time. <h3>Design/Methods:</h3> Case report with literature review. <h3>Results:</h3> Our patient is a 64-year-old woman who presented to our academic tertiary care center after being found unresponsive. On presentation her GCS was 3 and her urine drug screen was positive for cocaine, fentanyl, barbiturates, and opiates. Fingerstick glucose was over 500 by EMS and she was intubated in the emergency room. The patient was admitted to the MICU where her hospital course was complicated by shock, AKI, acute on chronic respiratory failure, and persistent encephalopathy. Follow-up neuroimaging showed worsening hydrocephalus with areas of signal abnormality and diffusion restriction in the bilateral hippocampi and cerebellar hemispheres, consistent with CHANTER Syndrome. She received hypertonic saline, an EVD was placed, and she underwent suboccipital craniectomy to further relieve intracranial pressure. She was ultimately discharged on hospital day 29 with residual cognitive deficits to an acute rehabilitation facility. <h3>Conclusions:</h3> We report a case of CHANTER Syndrome in a 64-year-old woman who was successfully treated with hypertonic saline and urgent suboccipital craniectomy. This case supports the growing cohort of studies that describe the unique clinical and radiological course of CHANTER Syndrome. <b>Disclosure:</b> Ms. Menville has nothing to disclose. Mr. Wang has nothing to disclose. Dr. Weisbach has nothing to disclose. Dr. Tung has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Up to Date. Dr. Tung has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Leeseberg &amp; Valentine. Dr. Tung has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Cooper &amp; Elliott. The institution of Dr. Richards has received research support from Brown Physicians, Inc.

Cryptococcal Meningoencephalitis and Immune Reconstitution Inflammatory Syndrome in a patient on Tocilizumab Therapy: A Case Report (P1-10.005)

<h3>Objective:</h3> To describe a case of cryptococcal meningoencephalitis complicated by immune reconstitution inflammatory syndrome (IRIS), vasculitis, ischemic strokes, and hydrocephalus. <h3>Background:</h3> Cryptococcus neoformans is the most common cause of fungal meningitis worldwide and typically affects individuals with defects in cell-mediated immunity. A 71-year-old female with giant cell arteritis on daily prednisone and monthly Tocilizumab infusions presented with worsening headaches for 2 weeks and new-onset confusion for 3 days. Initial workup revealed hyponatremia (sodium 125 mmol/L) and community acquired pneumonia. She was treated with antibiotics, but her mental status rapidly declined necessitating endotracheal intubation. MRI Brain demonstrated multifocal areas of diffusion restriction in the bilateral cerebral and cerebellar hemispheres, basal ganglia, and brainstem with diffuse leptomeningeal enhancement. Cerebrospinal fluid (CSF) studies revealed an elevated opening pressure of 28 cm H₂O, positive CSF cryptococcal antigen, and CSF fungal cultures grew cryptococcus neoformans. She was started on empiric liposomal amphotericin B and flucytosine before the cryptococcal antigen and cultures resulted. Despite treatment, her neurological status continued to decline with repeat MRI showing new ischemic infarctions, subarachnoid hemorrhages, and leptomeningeal and parenchymal enhancement. Digital subtraction angiography revealed cerebral vasospasm and possible vasculitis. Repeat lumbar puncture demonstrated persistently elevated opening pressure, continued pleocytosis, and increased protein. She was continued on antifungal therapy and received IV methylprednisolone for IRIS. She additionally underwent ventriculoperitoneal (VP) shunt placement. Despite these interventions, her clinical status continued to deteriorate and she was palliatively extubated. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> N/A <h3>Conclusions:</h3> This patient presented with cryptococcal meningoencephalitis in the setting of immune suppression from prednisone and tocilizumab, a monoclonal antibody that targets the IL-6 receptor. Despite early and appropriate treatment, she continued to worsen with multiple complications including IRIS, a dysfunctional inflammatory response to infection precipitated by immune recovery. In patients treated appropriately for cryptococcal meningoencephalitis, a failure to respond should raise concern for complicating conditions. <b>Disclosure:</b> Dr. Navalkar has nothing to disclose. Dr. Sui has nothing to disclose. The institution of Dr. Bashir has received research support from NIH. The institution of Dr. Bashir has received research support from PICORI. The institution of Dr. Bashir has received research support from Sanofi. Dr. Bashir has received research support from GWSP. The institution of Dr. Bashir has received research support from Roche. The institution of Dr. Bashir has received research support from Novartis. The institution of Dr. Bashir has received research support from Hoffmann-La Roche.