Case Reports in Neurology最新文献

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.

Introduction: Diastematomyelia is an uncommon congenital spinal cord abnormality, which is classically found in females and children. It involves the splitting of the spinal cord, either by a bony spur or by a fibrous septum. Diagnosis is usually made by using radiological investigations such as MRI and CT scans.

Case presentation: In this case report, we present a rare case of an adult presenting with symptoms of lower back pain, urinary incontinence, and decreased sensation in the perineum secondary to diastematomyelia. MRI was used for diagnosis and a lower thoracic spinal cord malformation was noted. She failed conservative treatment and was referred for surgery. A large Tarlov cyst was also noted upon operation. She tolerated the operation well and had good motor-evoked potentials after the surgery. Moreover, she also reported resolution of bladder function at 3-month follow-up.

Conclusion: Thus, diastematomyelia can also present in an adult. While conservative treatment can provide relief in mild cases, surgery provides a definitive solution.

Introduction: Prolonged postictal encephalopathy in elderly patients can be difficult to manage, especially when standard treatments fail. Amantadine, a dopaminergic agent with NMDA antagonist properties, is approved for use in Parkinson's disease and has demonstrated efficacy in enhancing recovery in TBI. However, its role in nontraumatic etiologies such as postictal states is not well established.

Case presentation: We describe a 95-year-old man with multiple comorbidities who remained somnolent and minimally responsive for 14 days after convulsive status epilepticus, despite seizure control and metabolic correction. EEGs showed no epileptiform activity, and imaging revealed no acute pathology. A trial of amantadine 100 mg daily was initiated for suspected postictal encephalopathy. Within 48 h, the patient showed significant improvement in alertness, orientation, and interaction, returning near baseline by day 10.

Conclusion: This case suggests a potential role for amantadine in treating prolonged postictal encephalopathy in elderly patients. Further research is needed to assess its efficacy in nontraumatic disorders of consciousness.

Introduction: High levels of lipoprotein (a) [Lp (a)] have gained attention as a risk factor for venous thrombosis. Venous thrombosis during pregnancy in women without thrombophilic predisposition is attributed to pregnancy itself. Herein, we report a case of high Lp (a) levels manifesting as recurrent deep vein thrombosis (DVT) and cerebral venous sinus thrombosis (CVST) in different pregnancies.

Case presentation: A 29-year-old Nepalese woman developed DVT during her first pregnancy. Examination revealed no thrombophilic predisposition. The thrombus resolved with oral anticoagulant medication, which was discontinued after 3 months. During the second pregnancy, prophylactic subcutaneous heparin injections were initiated to prevent venous embolism. Following several days of non-administration of heparin, she experienced left occipital pain, and magnetic resonance venogram showed left CVST. Oral anticoagulants were initiated, and her headache resolved within a few days. Additional blood tests showed abnormally high levels of Lp (a) at 113 mg/dL. Six months later, the CVST was partially recanalized.

Conclusion: If venous thrombosis develops during pregnancy in patients without thrombophilic predisposition, Lp (a) levels should be monitored, and long-term anticoagulant medication may be desirable in those with high Lp (a) levels to prevent recurrence of venous thrombosis.

Introduction: Meckel's cave cephalocele, also known as petrous apex cephalocele (PAC), is a rare cystic lesion caused by herniation of the cerebrospinal fluid into the Meckel's cave. Bilateral PACs are exceptionally rare, with only 21 reported cases. PACs may present with headache, diplopia, tinnitus, or cranial nerve palsy.

Case presentation: A 74-year-old male presented with acute onset headache, vision changes, and gait instability. His medical history included hypertension and melanoma. Examination revealed a left cranial nerve VI palsy. Initial imaging with head CT and CTA showed no acute intracranial abnormalities but revealed moderate chronic sinusitis. Magnetic resonance imaging demonstrated large bilateral Meckel's cave cephaloceles, more prominent on the left, with mass effect on the inferior margins of the cavernous sinus. Steroid treatment was initiated for suspected influenza-associated cranial neuropathy. Follow-up did not reveal an immediate improvement. However, after several weeks of steroid treatment, his symptoms improved significantly. The patient deferred surgical intervention.

Conclusion: This case highlights a rare presentation of bilateral PACs with cranial nerve VI palsy. Although surgical intervention may be definitive, conservative treatment can provide relief of symptoms in select cases. More research is needed to guide optimal management strategies.

Background: This case series highlights the various clinical manifestations of pembrolizumab-induced neurological adverse events, offering insights into the spectrum of immune-related neurological adverse events associated with immune checkpoint inhibitor (ICI) therapy.

Case presentation: We present 5 patients who received pembrolizumab as a part of their treatment. They exhibited a variety of clinical manifestations, which included central nervous system involvement and necrotizing myopathy, each responding differently to therapeutic interventions. Among the participants, there were two cases of myopathy, one case of demyelinating polyneuropathy, one individual whose myasthenia gravis had worsened, and 1 patient diagnosed with encephalitis. The patients experienced symptoms with varying degrees of severity, leading to different responses in their clinical treatment, and 1 patient ultimately passed away due to complications.

Conclusion: Neurological immune-related adverse effects (n-irAEs) are rare, and their identification poses a challenge due to their complexity and the presence of underlying autoimmune and paraneoplastic disorders. The expected prognosis for n-irAEs is unclear, presenting a range of complete recovery rates and differing mortality outcomes. The increased frequency of ICI usage increases the probability of an immune response, necessitating healthcare professionals to identify new symptoms in immunotherapy patients. Side effects differ from conventional chemotherapy and necessitate different therapeutic approaches.

Introduction: Tuberous sclerosis complex (TSC) is a rare, multisystem genetic disorder caused by mutations in the TSC1 or TSC2 genes, resulting in dysregulation of the mTOR pathway. Clinical manifestations include epilepsy, cutaneous lesions, and hamartomas in various organs, presenting diagnostic challenges, especially in resource-limited settings. In low- and middle-income countries (LMICs), barriers such as lack of access to genetic testing, advanced imaging, and targeted therapies contribute to underdiagnosis and delayed care.

Case presentation: We present a 22-year-old male from rural Tanzania with a 20-year history of intractable, treatment-refractory epilepsy. He also exhibited cutaneous findings, including facial angiofibromas, ash-leaf macules, and a shagreen patch. Brain imaging revealed subependymal nodules, and renal imaging identified angiomyolipomas. Despite the absence of genetic testing, a clinical diagnosis of TSC was made. The patient's condition was further complicated by aspiration pneumonia. Management included anticonvulsant therapy, antibiotics, and supportive care. Multisystem evaluation revealed cystic lung disease and renal involvement, underscoring the need for comprehensive follow-up. This case highlights the diagnostic reliance on clinical expertise and basic imaging in resource-limited settings.

Conclusion: This report emphasizes the importance of clinical recognition and multidisciplinary management of TSC in resource-constrained settings. Strengthening healthcare infrastructure, raising awareness, and fostering collaborations to enhance access to genetic testing and mTOR-targeted therapies are critical to improving outcomes for TSC patients in LMICs. The lessons from this case underscore the global relevance of addressing healthcare disparities in rare genetic disorders.

Introduction: Although rare, common carotid artery occlusion (CCAO) causes ischemic neurological dysfunction, which can be treated by revascularization. Although several bypass approaches for CCAO have been suggested, no consensus on the surgical revascularization approach and its functional outcome have been reached. Herein, we present a case of Rile's type 1A CCAO in which a subclavian artery (SclA)-internal carotid artery (ICA) bypass using a radial artery graft (RAG) resulted in immediate recovery of cognitive function and successfully prevented ischemic stroke.

Case description: A 58-year-old man presented with recurrent episodes of right-sided weakness. Brain magnetic resonance imaging revealed multiple cerebral infarcts. Digital subtraction angiography confirmed left CCAO and no anterograde blood flow in the left ICA and ipsilateral external carotid artery. A bypass was performed from the left SclA to the left cervical ICA using a left RAG, and supraclavicular anastomosis between the SclA and ICA was performed without graft-vessel kinking. Postoperatively, no neurological deficits were observed, and his cognitive function was successfully improved.

Conclusion: SclA-ICA bypass using an RAG can be a reasonable treatment option for CCAO. CCAO revascularization can prevent ischemic stroke and improve cognitive function.