Unexplained Neurological Symptoms Research Articles

Neurological symptoms in adults with Gaucher disease: a systematic review.

Gaucher disease (GD) is classically divided into three types, based on the presence or absence of neurological signs and symptoms. However, presentation can be highly variable in adulthood, and this aspect has not been adequately addressed in the literature so far. We performed a systematic literature review to analyze the entire spectrum of neurological manifestations in adult patients previously classified as GD type I, II, or III, evaluating the role of variants in different neurological manifestations. We searched databases for studies reporting clinical data of adult GD patients (age ≥ 18). Data extraction included GD types, GBA1 variants, age at disease onset and diagnosis, duration of GD, and age at onset and type of neurological symptoms reported. Among 4190 GD patients from 85 studies, 555 exhibited neurological symptoms in adulthood. The median age at evaluation was 46.8years (IQR 26.5), age at neurological symptoms onset was 44years (IQR 35.1), and age at GD clinical onset was 23years (IQR 23.4). Parkinsonism, including Parkinson's disease and Lewy Body dementia, was the most reported neurological manifestation. Other symptoms and signs encompassed oculomotor abnormalities, peripheral neuropathy, seizures, myoclonus, and cerebellar, cognitive and psychiatric symptoms. The genotype N370S/N370S mostly presented with Parkinsonism and the L444P variant with severe and earlier neurological symptoms. The findings of this systematic review highlight: (1) the relevance of a comprehensive neurological assessment in GD patients, and (2) the importance of considering possible undiagnosed GD in adult patients with mild systemic symptoms presenting unexplained neurological symptoms.

Neurobrucellosis: laboratory features, clinical characteristics, antibiotic treatment, and clinical outcomes of 21 patients

BackgroundNeurobrucellosis (NB) is a rare and serious complication of brucellosis. Its clinical manifestations vary, with no obvious specificity. At present, there is no clear clinical diagnosis or treatment for reference. In this study, we retrospectively analyzed the clinical data for 21 patients with NB to provide reference data for its further study.MethodsWe analyzed the epidemiological and clinical manifestations, laboratory tests, imaging examinations, cerebrospinal fluid, and treatment plans of 21 patients diagnosed with NB in the Department of Neurology, Xuanwu Hospital, Capital Medical University Beijing, China.ResultsThe ages of the patients ranged from 15 to 60 years old (mean age 40.1 ± 13.33 years), the male: female ratio was 4.25:1. Thirteen patients had a history of animal (sheep, cattle) contact, three had no history of animal contact, and the contact status of four was unknown. Brucella can invade various systems of the body and show multi-system symptoms, the main general manifestations were fever (66.67%), fatigue (57.14%) and functional urination or defecation disturbance (42.86%). The main nervous system manifestations were limb weakness (52.38%) and hearing loss (47.62%).The main positive signs of the nervous system included positive pathological signs (71.43%), sensory abnormalities (52.38%), limb paralysis (42.86%). Nervous system lesions mainly included spinal cord damage (66.67%), cranial nerve involvement (61.90%), central demyelination (28.57%) and meningitis (28.57%). In patients with cranial nerve involvement, 69.23% of auditory nerve, 15.38% of optic nerve and 15.38% of oculomotor nerve were involved. The blood of eight patients was cultured for Brucella, and three (37.5%) cultures were positive and five (63.5%) negative. The cerebrospinal fluid (CSF) of eight patients was cultured for Brucella, and two (25.00%) cultures were positive and six (75.00%) negative. Nineteen of the patients underwent a serum agglutination test (SAT), 18 (94.74%) of whom were positive and one (5.26%) of whom were negative. A biochemical analysis of the CSF was performed in 21 patients, and the results were all abnormal. Nineteen patients underwent magnetic resonance imaging (MRI). Twenty-one patients were treated with doxycycline and/or rifampicin, combined with ceftriaxone, quinolone, aminoglycoside, or minocycline. After hospitalization, 15 patients improved (71.43%), two patients did not recover, and the status of four patients was unknown.ConclusionsThe clinical manifestations, CSF parameters, and neurological imaging data for patients with NB show no significant specificity or correlations. When patients with unexplained neurological symptoms accompanied by fever, fatigue, and other systemic manifestations in a brucellosis epidemic area or with a history of contact with cattle, sheep, animals, or raw food are encountered in clinical practice, the possibility of NB should be considered. Treatment is based on the principles of an early, combined, and long course of treatment, and the general prognosis is good.

Waldenstrom Macroglobulinemia Recurrence with Bing–Neel Syndrome Presentation

Bing–Neel syndrome (BNS) is a rare condition that may occur in patients with Waldenstrom macroglobulinemia (WM) and is caused by lymphoplasmacytic infiltration into the central nervous system. BNS is an extramedullary manifestation of WM which may present with various neurological signs and symptoms that make the diagnosis difficult to achieve. We present a case of BNS in a 60-year-old patient diagnosed 6 years after recovering from Waldenstrom’s macroglobulinemia. We observed the patient for a secondary generalized focal motor seizure. Unenhanced brain CT revealed slight hyperdensity of left parietal subarachnoid spaces. The MRI of the brain and spinal cord showed leptomeningeal enhancement in both parietal lobes. The presence of monoclonal bands (light chain k and IgM) was found in cerebrospinal fluid, leading to the diagnosis of BNS. The patient started treatment with ibrutinib and remains clinically stable during a 1-year follow-up. However, the MRI showed the appearance of a new subcortical left parietal lesion. BNS is an extremely rare presentation of WM that should be recognized and considered early in the presence of unexplained neurological symptoms in patients with a history of WM, even if the patient appears to have recovered.

ANCA-associated systemic vasculitis initially mimicking peripheral neuropathy in an elderly woman

Anti-neutrophil cytoplasmic antibodies (ANCA)-associated systemic vasculitis (AASV) is a rare systemic immunological condition that predominantly impacts small arteries, veins, and capillaries, often leading to kidney damage and pulmonary injury. It is important to note that individuals primarily presenting with peripheral neuropathy (PN) are uncommon in AASV, which can result in significant misdiagnosis or undiagnosed cases. The severity and location of PN can vary among patients. In this article, we present a case of an AASV patient initially showing signs of PN. This case highlights the significance of considering AASV as a potential cause of unexplained neurological symptoms. Timely identification and proper treatment are essential for improving the survival rate and functional prognosis of AASV patients.
 doi: https://doi.org/10.12669/pjms.40.5.9070
 How to cite this: He X, Wang Y, Li X. ANCA-associated systemic vasculitis initially mimicking peripheral neuropathy in an elderly woman. Pak J Med Sci. 2024;40(5):---------. doi: https://doi.org/10.12669/pjms.40.5.9070
 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

CNSC-36. INDOLENT INTRAVASCULAR LARGE B-CELL LYMPHOMA (IVLBCL) ORIGINALLY PRESENTING AS A STROKE MIMIC

Abstract BACKGROUND IVBCL is a rare subtype of extranodal diffuse large B-cell lymphoma, characterized by the growth of neoplastic cells in blood vessels with no other apparent extravascular mass, making diagnosis a challenge. It usually has an aggressive and fast-paced course; however, there is limited data regarding incidence due to its rarity. CASE A 73 year-old woman presented with progressive gait worsening a year prior to presentation to our institution. Her symptoms then developed to include left-sided hemiparesis with associated headaches, warranting a local emergency department visit. Brain magnetic resonance imaging (MRI) without contrast showed a Flair hyperintense lesion in the right MCA territory with restricted diffusion, assumed to be an ischemic stroke, and she was started on stroke prevention measures. The patient continued to decline, becoming wheelchair-bound and developing short-term memory loss, chronic headaches, and pseudobulbar affect. Repeat brain MRI without contrast five months later showed progression of the Flair hyperintensity to the left hemisphere with restricted diffusion. Brain MRI with contrast followed, revealing subtle enhancement. Vessel imaging was unremarkable, and cerebrospinal fluid (CSF) analysis was normal with negative cytology and flow cytometry, yet elevated beta-2-microglobulin at 3.25 mcg/mL. A year after symptoms onset, the patient presented to our Neuro-Oncology clinic. Repeat Brain MRI with contrast and spectroscopy showed progression on the left-sided lesion with persistent restriction diffusion and enhancement, prompting a biopsy. Pathology confirmed large B cell lymphoma. PET-CT body scan showed no evidence of systematic disease. The patient was treated with Rituximab, Methotrexate, Vincristine, and Procarbazine (RMVP) with complete response demonstrated by complete resolution of the diffusion restriction and symptoms improvement. CONCLUSIONS Although IVLBCL is known for being a fast progressive disease, we present a case of indolent course delaying diagnosis. Unexplained progressive neurological symptoms with restricted diffusion on MRI should prompt consideration for this diagnosis.

"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".

Transcobalamin II (TCN2) defect is a rare metabolic disorder associated with a range of neurological manifestations, including mild developmental delay, severe intellectual disability, ataxia, and, in some cases, seizures. Cobalamin, an essential nutrient, plays a crucial role in central nervous system myelination. We present a family with an index patient who exhibited progressive neurodevelopmental regression starting at 9 months of age, accompanied by myoclonic seizures, ataxia, and tremor. No significant hematological abnormalities were observed. Exome sequencing analysis identified a novel homozygous mutation, c.3G>A - P(Met1I), affecting the acceptor site of intron 4 of the TCN2 gene (chromosome 22: 31003321, NM_000355.4), leading to likely pathogenic variant potentially affecting translation. Following treatment with hydroxocobalamin, the patient demonstrated partial clinical improvement. He has a sibling with overt hematological abnormalities and subtle neurological abnormalities who is homozygous to the same mutation. Both parents are heterozygous for the same mutation. In infants presenting with unexplained non-specific neurological symptoms, irrespective of classical signs of vitamin B12 deficiency, evaluation for TCN2 defect should be considered. Early diagnosis and appropriate management can lead to favorable outcomes.

SAT590 Complex Migraine Manifesting As CDI - A Rare Occurrence

Abstract Disclosure: M. Shahid: None. E. Sari: None. W. Timirau: None. A. Hamza: None. N. Guzman: None. S. Sultan: None. Introduction: There are many references in the literature to unexplained neurological symptoms occurring with complex migraines, however, complex migraine manifesting as central diabetes insipidus (CDI) is rare. Clinical Case: A 48-year-old female with past medical history of psoriatic arthritis, generalized anxiety disorder, and migraine presented with the worst headache of her life for 2 days, typical for her migraine but with increased severity, and minimally responsive to NSAIDs. Her headache was accompanied by nausea, photophobia, floaters, polydipsia and polyuria. She denied any neck pain/rigidity, focal deficits, or head trauma. She reported a similar episode with lesser severity 10 days ago which resolved in 3 days. She related her headache episodes with polyuria. Her medications included topiramate, escitalopram, apremilast, loratadine, and NSAIDs. She denied any new medications. Physical examination was unremarkable. Initial labs showed high-normal sodium 145 mMol/L, normal serum osmolality 292 mOsm/kg, low urine specific gravity 1.003, and low urine osmolality 117 mOsm/kg and urine sodium 32.4 mMol/L. HbA1c, B-hCG and urinalysis were normal. CT brain, CTA head and neck, MRI brain with/without IV contrast, and CSF analysis were unremarkable. The patient was started on abortive treatment for migraine. She had a negative fluid balance of 1500ml during first 24 hours. Polyuria did not resolve with water restriction but resolved with improvement of migraine; which favored the diagnosis of complex migraine manifesting with polyuria secondary to CDI. Patient was discharged on migraine prophylaxis and neurology follow-up. Conclusion: Link between migraine and endocrinological disorders has been well identified. Even though most cases are idiopathic, any disorder that acts at the hypothalamic-pituitary axis involved in ADH secretion can cause CDI, however migraines as an etiology remains rare. Early recognition of symptoms, treatment of migraine and introduction of migraine prophylaxis was crucial in our case to prevent further episodes of CDI. Presentation: Saturday, June 17, 2023

Clinical and laboratory findings and etiologies of genetic homocystinemia: a single-center experience.

Homocysteine (Hcy) is an endogenous nonprotein sulfur-containing amino acid biosynthesized from methionine by the removal of its terminal methyl group. Hyperhomocysteinemia (HHcy) has been linked to many systemic disorders, including stroke, proteinuria, epilepsy, psychosis, diabetes, lung disease, and liver disease. The clinical effects of high serum Hcy level, also known as hyperhomocysteinemia, have been explained by different mechanisms. However, little has been reported on the clinical and laboratory findings and etiologies of genetic HHcy in children. This study aimed to examine the relationships between clinical features, laboratory findings, and genetic defects of HHcy. We retrospectively evaluated 20 consecutive children and adolescents with inherited HHcy at the pediatric neurology division of Baskent University, Adana Hospital (Adana, Turkey) between December 2011 and December 2022. Our main finding is that the most common cause of genetic HHcy is MTHFR mutation. The other main finding is that the Hcy level was higher in patients with CBS deficiency and intracellular cbl defects than in MTHFR mutations. We also found that clinical presentations of genetic HHcy vary widely, and the most common clinical finding is seizures. Here, we report the first and only case of a cbl defect with nonepileptic myoclonus. We also observed that mild and intermediate HHcy associated with the MTHFR mutation may be related to migraine, vertigo, tension-type headache, and idiopathic intracranial hypertension. Although some of the patients were followed up in tertiary care centers for a long time, they were not diagnosed with HHcy. Therefore, we suggest evaluating Hcy levels in children with unexplained neurological symptoms. Our findings suggest that genetic HHcy might be associated with different clinical manifestations and etiologies. Therefore, we suggest evaluating Hcy levels in children with unexplained neurologic symptoms.

Idiopathic Isolated Adrenocorticotropic Hormone Deficiency: A Single-Center Retrospective Study.

Idiopathic isolated adrenocorticotrophic hormone deficiency (IIAD) is rare, with high clinical omission and misdiagnosis rates. This study retrospectively collected information on clinical presentation, laboratory findings, and treatment response of 17 patients with IIAD at Jining No. 1 People's Hospital from January 2014 to December 2022. The clinical characteristics were summarized, and the pertinent data were analyzed. As a result, most of the patients with IIAD were male (94.12%), with age at onset ranging from 13 to 80 years. The primary manifestations were anorexia (88.24%), nausea (70.59%), vomiting (47.06%), fatigue (64.71%), and neurological or psychiatric symptoms (88.24%). The median time to diagnosis was 2 months and the longest was 10 years. Laboratory tests mostly showed hyponatremia (88.24%) and hypoglycemia (70.59%). The symptoms and laboratory indicators returned to normal after supplementing patients with glucocorticoids. IIAD has an insidious onset and atypical symptoms; it was often misdiagnosed as gastrointestinal, neurological, or psychiatric disease. The aim of this study was to improve clinicians' understanding of IIAD, patients with unexplained gastrointestinal symptoms, neurological and psychiatric symptoms, hyponatremia, or hypoglycemia should be evaluated for IIAD and ensure early diagnosis and treatment.

The insidious presentation and clinical polymorphism of neurobrucellosis: About two case reports

Introduction. Even though it is rare, neurobrucellosis is characterized by broad clinical and imaging features. The diagnosis is often late at the cost of irreversible neurological sequelae. Case report. We report two cases of neurobrucellosis. The first case is a 29-year-old man with chronic headache, radiculopathy and diplopia. The second case is a 26-year-old man who presented a progressive gait disturbance and hearing loss. In both cases, magnetic resonance imaging revealed leptomeningeal gadolinium enhancement and the second case had additional bilateral hypersignal of the acoustic-facial bundle. Cerebrospinal fluid analysis showed a positive culture for Brucella and elevated titers of anti-Brucella antibodies. Both patients received combined antibiotic therapy without significant improvement. Conclusion. Our cases highlight the importance of considering Brucella infection in patients with unexplained neurological symptoms in endemic regions, even in the absence of infection symptoms.

Diagnosis of psychogenic (functional) gait disorders

Psychogenic gait is common in patients with medically unexplained neurological symptoms and provides significant challenges to healthcare providers. Clinicians may arrive at a correct diagnosis earlier if distinctive positive signs are identified and acknowledged. Psychogenic disorders of posture and gait are common and are the major manifestation in 8–10 % of patients with psychogenic movement disorders. Psychogenic movement disorders can present with varied phenomenology that may resemble organic movement disorders. The diagnosis is based on clinical evaluation with a supporting history and classic features on neurologic examination. In functional gait disorders, walking is often bizarre and does not conform to any of the usual patterns observed with neurologic gait disorders. Astasia-abasia, an inability to stand (astasia) or walk (abasia) in the absence of other neurologic abnormalities, was the term applied by investigators in the mid to late 19thcentury to describe certain patients with a frankly functional gait. Other descriptive terms include gaits that resemble walking on ice, walking a sticky surface, walking through water (bringing to mind excessive slowness), tightrope walking, habitual limping, and bizarre, robotic, knock-kneed, trepidant, anxious, and cautious gaits. Ancillary testing, such as imaging and neurophysiologic studies, can provide supplementary information but is not necessary for diagnosis.

Somatic symptom disorder, neurology and long Covid: understanding what cannot be explained

The neurological symptoms associated with long Covid are incredibly varied, with the origin of these symptoms not clearly understood among clinicians. For many, the neurological symptoms of long Covid have been linked to a form of somatic symptom disorder, with some people requiring psychiatric management. Sarah Palmer provides a summary on the nature of somatic symptom disorder and discusses a recent publication that links a diagnosis of somatic symptom disorder to the unexplained neurological symptoms in patients with long Covid.

Somatic symptom disorder in patients with post-COVID-19 neurological symptoms: a preliminary report from the somatic study (Somatic Symptom Disorder Triggered by COVID-19)

ObjectivesTo assess the diagnosis of somatic symptom disorder (SSD) in patients with unexplained neurological symptoms occurring after SARS-CoV-2 infection, also referred to as long COVID.DesignSingle-centre observational study.ParticipantsAdult patients experiencing unexplained...

Recurrent ‘Occult’ 18F-FDG Uptake in an Atypical Case of Anti-Myeloperoxidase Antineutrophil Cytoplasmic Antibody-Associated Vasculitis

A 72-year-old woman, with anti-myeloperoxidase antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), presented with two episodes of spinal pachymeningitis (at two different levels 9 years apart, cervical in 2011 and dorso-lumbar in 2020) associated with aortitis and only demonstrated by F-18 fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT). This association between aortitis and pachymeningitis in AAV appears exceptional. Moreover, the relapse of aortitis and pachymeningitis in 2020 was not accompanied by an increase in ANCA.This case demonstrates the value of 18F-FDG PET/CT in the management of AAV, providing evidence of the recurrence and distribution of lesions in various organs, including those with unexpected involvement.LEARNING POINTSInvolvement of large vessels such as the aorta is rarely associated with anti-myeloperoxidase antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), but has been described in a few cases. Possible aortic involvement should always be kept in mind while managing a patient with AAV.Pachymeningitis is rarely associated with AAV, but in case of unexplained and unspecific neurological symptoms in patients with AAV, such involvement should be considered.18F-FDG PET/CT is a promising tool for the management of patients with AAV, allowing unexpected sites, undetected by usual examinations, to be highlighted. In contrast to giant-cell arteritis, this exam has not, until now, been included in the recommended/systematic work-up of AAV.

Functional neurological disorder and other unexplained syndromes

Functional neurological disorder is a syndrome of medically unexplained neurological symptoms. In The Lancet Neurology, Mark Hallett and colleagues review some of the potential explanations for functional neurological disorder and the evidence that supports these explanations. 1 Hallett M Aybek S Dworetzky B McWhirter L Staab J Stone J Functional neurological disorder: new phenotypes, common mechanisms. Lancet Neurol. 2022; (published online April 14.)https://doi.org/10.1016/S1474-4422(21)00422-1 Summary Full Text Full Text PDF PubMed Scopus (1) Google Scholar The paper by Hallett and colleagues, however, is more than a Review: it is also a territorial claim, seeking to expand the boundaries of what should be considered functional neurological disorder. The details of this claim are unlikely to be controversial to any clinician working in the field: the presentations Hallett and colleagues describe are not new, even if they do not fall within the current classifications of the disorder. But the claim is nonetheless remarkable, as even a decade ago it would have been thought to be sheer folly. A good argument could then have been made that functional neurological disorder (or conversion disorder, as it was more formally known) was the most stigmatised of all disorders, even compared with other unexplained syndromes. What would have been the point of expanding the scope of a diagnosis that patients went to such lengths to avoid? 2 Crimlisk HL Bhatia KP Cope H David AS Marsden D Ron MA Patterns of referral in patients with medically unexplained motor symptoms. J Psychosom Res. 2000; 49: 217-219 Crossref PubMed Scopus (35) Google Scholar The expansive mood in the Review by Hallett and colleagues therefore reflects a striking transformation in the status of functional neurological disorder. Functional neurological disorder has become a diagnosis that a neurologist might be comfortable to give, and that a patient might be glad to receive. Functional neurological disorder: new subtypes and shared mechanismsFunctional neurological disorder is common in neurological practice. A new approach to the positive diagnosis of this disorder focuses on recognisable patterns of genuinely experienced symptoms and signs that show variability within the same task and between different tasks over time. Psychological stressors are common risk factors for functional neurological disorder, but are often absent. Four entities—functional seizures, functional movement disorders, persistent perceptual postural dizziness, and functional cognitive disorder—show similarities in aetiology and pathophysiology and are variants of a disorder at the interface between neurology and psychiatry. Full-Text PDF

Psychosomatic or Psychotropic Polypharmacy? A Case Highlighting the Importance of Pharmacokinetics

<h3>Introduction</h3> Psychotropic drugs are among the most common medications prescribed to elderly patients. The number of psychotropic drugs has increased significantly over the past few decades with a proportional increase in adverse medication outcomes including drug-drug interactions. Advancing age is accompanied by changes in pharmacokinetics and pharmacodynamics that put older patients at greater risk for adverse medication outcomes. The majority of psychotropic agents are metabolized by hepatic enzymes with many drug-drug interactions of psychotropics involving the cytochrome P450 enzyme system. The activity of these enzymes can be inhibited or induced by several drugs resulting in clinically significant drug-drug interactions. This case highlights the importance of maintaining a comprehensive understanding of pharmacokinetics and considering the possibility of an adverse drug reaction when evaluating an older patient presenting with new and unexplained symptoms. <h3>Methods</h3> This case report focuses on a geriatric patient with depression and multiple medical comorbidities presenting with unexplained neurological symptoms thought to be psychosomatic in origin. Patient's clinical documents in our electronic medical records system were reviewed. A literature survey was performed on the topic of psychotropic polypharmacy, pharmacokinetics, and the increased risk of adverse medical outcomes in geriatric patients. <h3>Results</h3> A 69 year old female was referred by inpatient neurology to an outpatient geriatric psychiatry clinic for evaluation and management of psychogenic non-epileptic seizures/conversion disorder. She had been experiencing ongoing symptoms of dizziness, dysarthria, and gait instability with multiple serious falls requiring hospitalization. She underwent an extensive and uneventful medical and neurological workup. Immediately prior to onset of symptoms, the patient was taking the maximum dose of amitriptyline at 150mg when bupropion was added and increased to 300mg. Symptoms were suspected to be secondary to amitriptyline toxicity with bupropion (a potent CYP2D6 inhibitor) leading to supratherapeutic amitriptyline levels (a CYP2D6 substrate). Amitriptyline level was obtained and returned supratherapeutic at 362. Both amitriptyline and bupropion were discontinued with immediate resolution of the patient's neurological symptoms. <h3>Conclusions</h3> Polypharmacy is a disease simulator; patients may exhibit conditions caused by medications rather than organic illness. It is crucial for clinicians to be aware of drug interactions and consider whether the development of a new medical condition could be the presentation of an adverse drug event. Many drug interactions are the result of altered CYP450 metabolism, and therapeutic drug doses may cause adverse effects related to increased drug serum levels if a CYP450 enzyme inhibitor is added or if the patient is a genetically poor metabolizer. Knowledge of the most important drugs metabolized by cytochrome P450 enzymes, as well as the most potent inducers and inhibitors, can help to reduce the occurrence of adverse drug events and interactions.

Arterial spin labeling as an ancillary assessment to postoperative conventional angiogram in pediatric moyamoya disease

Digital subtraction angiography (DSA) is commonly performed after pial synangiosis surgery for pediatric moyamoya disease to assess the degree of neovascularization. However, angiography is invasive, and the risk of ionizing radiation is a concern in children. In this study, the authors aimed to identify whether arterial spin labeling (ASL) can predict postoperative angiogram grading. In addition, they sought to determine whether patients who underwent ASL imaging without DSA had similar postoperative outcomes when compared with patients who received ASL imaging and postoperative DSA. The medical records of pediatric patients who underwent pial synangiosis for moyamoya disease at a quaternary children's hospital were reviewed during a 10-year period. ASL-only and ASL+DSA cohorts were analyzed. The frequency of preoperative and postoperative symptoms was analyzed within each cohort. Three neuroradiologists assigned a visual ASL grade for each patient indicating the change from the preoperative to postoperative ASL perfusion sequences. A postoperative neovascularization grade was also assigned for patients who underwent DSA. Overall, 21 hemispheres of 14 patients with ASL only and 14 hemispheres of 8 patients with ASL+DSA were analyzed. The groups had similar rates of MRI evidence of acute or chronic stroke preoperatively (61.9% in the ASL-only group and 64.3% in the ASL+DSA group). In the entire cohort, transient ischemic attack (TIA) (p = 0.027), TIA composite (TIA or unexplained neurological symptoms; p = 0.0006), chronic headaches (p = 0.035), aphasia (p = 0.019), and weakness (p = 0.001) all had decreased frequency after intervention. The authors found a positive association between revascularization observed on DSA and the visual ASL grading (p = 0.048). The visual ASL grades in patients with an angiogram indicating robust neovascularization demonstrated improved perfusion when compared with the ASL grades of patients with a poor neovascularization. Noninvasive ASL perfusion imaging had an association with postoperative DSA neoangiogenesis following pial synangiosis surgery in children. There were no significant postoperative stroke differences between the ASL-only and ASL+DSA cohorts. Both cohorts demonstrated significant improvement in preoperative symptoms after surgery. Further study in larger cohorts is necessary to determine whether the results of this study are validated in order to circumvent the invasive catheter angiogram.

Hemorrhagic Brain Metastasis as an Initial Presentation of Hepatocellular Carcinoma in a Patient With Alcohol-Related Liver Cirrhosis: A Case Report and Review of Literature

Hepatocellular carcinoma (HCC) is the most common primary hepatic cancer. Although it usually presents as a liver mass, rarely HCC can have an initial presentation at an extrahepatic site before the diagnosis of the primary lesion in the liver. Even rarely was that brain metastasis as initial extrahepatic presentations. Furthermore, the initial presentation of HCC as brain metastases has been with most cases being secondary to hepatitis-related hepatoma. In this case report, we are presenting a rare and unusual case of hemorrhagic cerebral metastasis as an initial extrahepatic presentation of an alcohol-related hepatoma. Our case is the second case in the English literature that has been presented in such a way. Due to the uncommonness of presentation, there can be diagnostic dilemmas and delay in treatment. Therefore, a high level of suspicion is needed in the high-risk patients of HCC who present with unexplained or new neurological signs and symptoms. More exploration is warranted for clinical research and treatment guidelines for brain metastases of HCC to help improve survival and quality of life.

Spectrum of Neuroimaging Findings in Post-COVID-19 Vaccination: A Case Series and Review of Literature.

Background and Purpose: The novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was first detected in Wuhan, China in December 2019. Symptoms range from mild flu-like symptoms to more severe presentations, including pneumonia, acute respiratory distress syndrome (ARDS), and even death. In response to the COVID-19 pandemic, the Emergency Use Authorization (EUA) approved the use of several vaccines. Because vaccines have been fast-tracked for emergency use, the short and long-term safety profile has been an area of concern. The aim of this paper is to extensively review published literature regarding post-COVID-19 vaccination neurological complications and characterize neuroimaging findings from three case presentations for early diagnosis and treatment. Methods: The analysis includes data from PubMed and Google Scholar. Articles included were retrieved from database inception beginning December 2020 with no language restrictions. Terms used include “SARS-CoV-2”, “post Covid vaccination”, “neurological complications”, “Guillain-barre Syndrome”, “Transverse-myelitis”, “Cerebral Venous Sinus thrombosis”, and “Cerebral hemorrhage”. Results: The literature review yielded several neurological complications post vaccination, including cerebral sinus venous thrombosis, transverse myelitis, Guillain-Barré Syndrome and optic neuritis, to name a few. Patient case presentation findings were consistent with documented results in published literature. Conclusions: We present a case series with a thorough literature review documenting adverse neurological affects following COVID-19 vaccination. Our case presentations and literature review highlight the importance of neuroimaging when diagnosing post-COVID-19 vaccination adverse effects. MRI imaging study is an important tool to be considered in patients presenting with post-COVID-19 vaccination-related unexplained neurological symptoms for accurate diagnosis.

Diagnostic utility of flow cytometric immunophenotyping in cerebrospinal fluid specimen

Abstract Introduction/Objective Flow cytometric immunophenotyping (FCI) of cerebrospinal fluids (CSF) has increasingly been used for diagnosing and monitoring hematologic malignancies. We reviewed CSF specimens sent for flow cytometry evaluation to identify the utility and limitations of FCI. Methods/Case Report We performed a retrospective review on CSF specimens received from July to October 2020. Samples were sent with requisition for unexplained neurologic signs or symptoms, to determine CNS involvement of neoplasm, or to stage a neoplasm. We reviewed specimen volume and cell count of flow cytometry samples and electronic medical records for possible diagnosis at time of specimen submission, final diagnosis, and concurrent cytology diagnosis. Results (if a Case Study enter NA) A total of 104 CSF samples from 59 patients were processed by the Flow Cytometry Laboratory during the review period. Of the 104 samples, 66% were from patients with a prior history of a hematologic malignancy, of which 20% had abnormal findings by FCI and cytomorphology. FCI was noncontributory for the cases in which patient did not have a previously diagnosed hematologic malignancy and underwent lumbar puncture for neurological abnormalities (n = 34). Concurrent cytology results were available in all but one case. Atypical or reactive findings by cytomorphology were seen in 21 cases (20%), for which flow cytometry studies showed no diagnostic immunophenotype in 12 cases. Abnormal FCI results occurred in 5 cases with history of hematologic malignancies, while concurrent cytomorphologic reports were negative. Conclusion Our findings suggest that CSF flow cytometry has low utility for screening patients with undifferentiated neurologic symptoms or without a prior hematologic malignancy history. Use as a screening tool for cases without clinical suspicion of hematolymphoid neoplasm is debatable. Flow cytometric and cytomorphologic analysis should be performed concurrently. While flow cytometric analysis in CSF may have higher sensitivity in hematologic malignancies, cytomorphology appears more favorable in identifying atypia or reactive conditions.