Case Reports in Neurology最新文献

Introduction: Dementia characterized by the accumulation of argyrophilic grains (AGs) in neurons as sole neuropathology at autopsy is known as dementia with grains (DG). The clinical features of DG include progressive memory disturbances and behavioral changes. Recently however, cases of DG presenting with parkinsonism were also described. Here, we report the first case of DG mimicking dementia with Lewy bodies.

Case presentation: A 72-year-old male patient was seen at our outpatient memory clinic with progressive complaints in multiple cognitive domains (memory, orientation, praxis, and executive function), fluctuations in arousal and behavioral changes. In addition, he reported neuropsychiatric symptoms, including a depressed mood and visual hallucinations. During neurological examination, he demonstrated bilateral rigidity and bradykinesia with a right-sided predominance. These symptoms in combination with decreased striatal uptake of tracer on a 123I-FP-CIT-SPECT scan led to the clinical diagnosis of probable mild dementia with Lewy bodies. Treatment was with rivastigmine, and levodopa/benserazide was initiated. Over the years, cognitive and motor function only slowly progressed. Autopsy was performed after passing. Neuropathological findings included dot-like and comma-shaped tau-positive structures, indicative of AGs, spread throughout the limbic but also the nigrostriatal system. No co-pathology and in particular no alpha-synucleinopathy was present. Consequently, patient's diagnosis was posthumously revised to DG.

Conclusion: Here, we present the first known case of DG clinically mimicking dementia with Lewy bodies. Our findings support the notion that parkinsonism should be included in the clinical phenotype of DG and that DG should be considered more often as diagnosis, when the clinical presentation is atypical.

Introduction: Heat stroke is a life-threatening condition characterized by hyperthermia and central nervous system (CNS) dysfunction, and often leads to multiorgan damage. Both intestinal and neurological complications have been individually reported in severe cases of exertional heat stroke (EHS); however, their concurrent presentation is rare.

Case presentation: We hereby report the case of a 48-year-old man with a history of untreated hypertension, who collapsed when working outdoors in hot and humid weather. He was brought in a comatose condition with hypotension and a core body temperature of 40.6°C. Initial whole-body computed tomography (CT) revealed intestinal edema. Brain CT indicated no abnormalities; however, magnetic resonance imaging (MRI) on Day 3 revealed diffusion-weighted imaging hyperintensities in the bilateral hippocampi and right putamen, consistent with hippocampal ischemia and lacunar infarction. Cognitive assessments using the Mini-Mental State Examination (MMSE), Frontal Assessment Battery (FAB), and Trail Making Test (TMT) identified persistent memory impairment and executive dysfunction. These findings correlated with the MRI report and corroborated the hippocampal and frontal-subcortical involvement. The putaminal infarct was attributed to microvascular vulnerability intensified by dehydration and hypercoagulability.

Conclusion: This is the first reported case of EHS presenting with concurrent intestinal edema, hippocampal abnormalities, and lacunar infarction. Early systemic and neurological imaging, along with detailed neuropsychological assessment, are crucial for identifying the extent of CNS injury. Intestinal edema on early CT imaging may serve as a radiological marker of systemic endothelial injury and potential CNS involvement in severe EHS, thereby alerting clinicians to the possibility of intracranial complications.

Introduction: Intravascular large B-cell lymphoma is a rare, fatal, aggressive lymphoma that is characterized by the proliferation of clonal lymphocytes within the lumen of small, medium, and large vessels. Diagnosis is challenging given the nonspecific initial presentation. Incidence is <1 case per 1 million per year worldwide.

Case report: We report a case of intravascular large B-cell lymphoma in a 62-year-old female who presented to the clinic with symptoms of migraine with aura. MRI brain showed T2 hyperintensities in the splenium of the corpus callosum, right frontal, and bilateral parietal lobes, which progressed on repeat imaging. Laboratory studies only showed mild elevation of alanine aminotransferase to 75 (8-35 U/L). Computed tomography of the chest, abdomen, and pelvis showed splenomegaly but did not show lymphadenopathy or masses. She underwent a brain biopsy and was found to have intravascular large B-cell lymphoma and was transferred to a specialist oncological center to be started on R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) chemotherapy. She passed away 7 months after the initial outpatient visit.

Conclusion: The initial presentation of migraine with aura was not previously described. Nonspecific initial laboratory studies, preexisting Waldenstrom's macroglobulinemia which explained splenomegaly, absence of masses in the chest, abdomen, and pelvis, absence of lymphadenopathy, and MRI imaging mimicking multiple sclerosis made the diagnostic process exceedingly difficult. We demonstrate another presentation of this rare and fatal disease and hope that the reader will consider this differential diagnostic possibility when evaluating patients with rapidly worsening neurological symptoms.

Introduction: Cognard-type V arteriovenous fistulas are rare forms of dural arteriovenous malformations. This specific subtype is characterised by spinal venous drainage into peri-medullary veins, which presents as progressive or ascending myelopathy in 50% of cases.

Case presentation: A 59-year-old man with 3 weeks of worsening quadriparesis, along with abnormal sensory findings, gait deterioration, and bowel and bladder dysfunction, was admitted to the hospital. MRI revealed extensive T2 hyper-intense signal changes in the brainstem and myelopathy in the cervical spinal cord extending down to C7. The differential diagnosis for extensive myelopathy and brainstem lesions seen on MRI included a tumour, autoimmune inflammation, and suspicion of vascular malformation. The administration of corticosteroids resulted in a worsening of the patient's neurological symptoms. Conventional angiography confirmed the presence of a dural AVF (a small arteriovenous short shunt receiving arterial supply from the middle meningeal and occipital artery) in the territory of the left external carotid artery. A minimally invasive endovascular treatment was successfully performed.

Conclusion: We present this case considering that only 100 patients with Cognard type V fistula have been reported to date. Additionally, we aim to highlight the importance of caution when administering corticosteroids in cases of diagnostic uncertainty.

Introduction: Current versatile treatments for acute vessel occlusion - whether arterial or venous - have significantly improved the success of recanalization. However, patients who present with unexplained thromboembolic events, including arterial and venous, especially in the absence of traditional risk factors, should undergo thorough evaluation for potential underlying causes, including malignancies.

Case presentation: A 66-year-old man experienced deep vein thrombosis of the left femoral vein and underwent catheter-directed thrombolysis followed by rivaroxaban therapy. Two weeks later, he presented with acute drowsiness, right-sided hemiparesis, and left hemineglect. Brain magnetic resonance imaging revealed acute multiple infarcts. During hospitalization, laboratory findings indicated disseminated intravascular coagulation. Further evaluation showed a markedly elevated prostate-specific antigen level, prompting prostate magnetic resonance imaging, which revealed advanced prostate cancer with staging of cT4N1M1a. The diagnosis was confirmed by biopsy. Hormone therapy with degarelix was initiated. Atrial fibrillation also developed during the hospital stay, and apixaban was prescribed. The patient demonstrated continuous clinical improvement and achieved a modified Rankin Scale score of 2 at 9 months post-stroke.

Conclusion: This case highlights the importance of thorough investigation in patients with unusual thromboembolic events, both arterial and venous. Timely diagnosis and treatment of underlying malignancy are crucial in preventing recurrence of cancer-related stroke.

Introduction: Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder which can present a diagnostic challenge. We present a case with video examples, of an uncommon cause of PKD.

Case presentation: A 16-year-old male presented with abrupt onset, brief episodes of right-sided head version, usually accompanied by extension of the left and rarely right arm. He experienced preceding bilateral sensory disturbance in his legs. His twin brother was diagnosed with focal seizures. There were no neurodevelopmental concerns. Sudden movement preceded stereotypical episodes. MRI brain was unremarkable. Home video and video EEG were utilised to reach a clinical diagnosis. The clinical phenotype of PKD was recognised, and he was treated with low-dose carbamazepine. Next-generation sequencing showed no pathogenic variant in gene panels for dystonia or channelopathies, including the common genes associated with PKD such as PRRT2 mutations. Subsequent microarray testing demonstrated a pathogenic 599 kb gene deletion on the 16p11.2 region, which includes the PRRT2 gene, confirming the diagnosis of PKD.

Conclusion: PKD is an important diagnosis to consider due to the potential delay in diagnosis, genetic implications, and treatment responsiveness. Video recordings are valuable diagnostic tools. When suspecting PKD, screening for PRRT2 variants as well as 16p11.2 microdeletions should be considered.

Introduction: A CT-guided lung biopsy is a procedure to obtain tissue samples for lesion characterization and staging, but a rare and dangerous complication is a cerebral and systemic air embolism, which can cause ischemic organ damage.

Case presentation: We report a case of a 62-year-old male with adenocarcinoma of the right lung who underwent a CT-guided lung biopsy to assess for small cell transformation. During the final biopsy attempt, a suctioning sound was heard from the needle tip, and the patient immediately became unresponsive, experiencing hypotension, tachycardia, and hypopnea. Non-contrast CT showed intracranial and subcutaneous air emboli. The patient was intubated and transferred to the ICU, where he received hyperoxygenation therapy.

Conclusion: This case highlights that cerebral air embolism, although rare, can be a severe complication of CT-guided lung biopsy. Prompt recognition and treatment are essential for positive outcomes. As image-guided procedures increase, such cases may become more common, requiring further research.

Introduction: Spinal cord infarction (SCI) is a relatively rare disorder, constituting 1-2% of ischemic strokes and 5-8% of all acute myelopathies.

Case presentation: Here we describe a case of SCI in a 49-year-old male with no prior neurological history that presented to the Emergency Department of Virginia Commonwealth University with sudden onset bilateral lower extremity paralysis, decreased sensation, and urinary retention after weightlifting. Spinal magnetic resonance imaging revealed anterior signal abnormality T8 down to conus medullaris, terminating at L1 compatible with SCI. T9-T10 moderate spinal stenosis, along with degenerative changes L5-S1, was seen. Abdominal CT angiography revealed no signs of aortic dissection and no evidence of intestinal ischemia. He was treated with gabapentin for neuropathic abdominal pain and aspirin.

Conclusion: This case represents an uncommon presentation of exertion-induced SCI. In patients with acute neurologic symptoms with absence of trauma, SCI should remain high on the differential.

Background: Leukocytoclastic vasculitis (LCV) is a small vessel vasculitis primarily affecting the skin, and its association with specific drugs is not widely documented. This case study explores the occurrence of LCV following the initiation of ocrelizumab, a monoclonal antibody used in the treatment of primary progressive multiple sclerosis (PPMS).

Case presentation: A 49-year-old Iranian female with PPMS developed lower limb edema and diffuse palpable purpura 1 week after starting ocrelizumab therapy. Skin biopsy confirmed LCV, showing vessel wall destruction, neutrophil infiltration, and fibrinoid necrosis. Laboratory tests revealed elevated inflammatory markers, including ESR 1 h: 52 and CRP: 52.8, supporting the diagnosis. The patient's symptoms improved after a course of intravenous methylprednisolone, and ocrelizumab was resumed without recurrence of skin lesions. This case highlights the need for vigilance in detecting drug-related vasculitis in ocrelizumab-treated patients.

Conclusion: This case is the first reported instance of LCV associated with ocrelizumab in the treatment of multiple sclerosis. It underscores the need for awareness of potential drug-induced vasculitis in patients undergoing new or modified treatments and contributes to the growing understanding of adverse effects associated with ocrelizumab.

Introduction: Alternating hemiplegia of childhood (AHC) is a complex neurological disorder comprising paroxysmal episodes of repeated, transient paresis involving either or both sides of the body, with onset usually before the age of 18 months. The etiology is varied and includes channelopathy, mutations of the ATP1A3 gene that encode alpha subunit of the NA⁺-K⁺ ATPase pump.

Case presentation: A 7-month-old girl presented with tonic neck deviation of the neck and eyes, episodic hemiparesis affecting both sides alternatively. Each episode resolved after sleep and was precipitated by hunger, fever, and sleep deprivation. Neurological examination and laboratory workup, including MRI and EEG, were normal. Whole-exome sequencing revealed a heterozygous de novo pathogenic mutation in the ATP1A3 gene (p.Asp801Asn), confirming AHC. She was started on flunarizine, a calcium channel blocker. Significant clinical improvement and catch-up in developmental milestones were observed on follow-up.

Conclusion: AHC is frequently misdiagnosed due to its rarity and varied presentation. Diagnosis is clinical and supported by genetic testing. Mutations in ATP1A3 are common and often cluster at specific hotspots. Management includes symptomatic treatment and supportive care, with flunarizine offering some benefit. This case highlights the need for early recognition and genetic confirmation of AHC to initiate therapy and improve quality of life.