Case Reports in Neurological Medicine最新文献

Cervical spondylotic myelopathy (CSM) is a common cause of spinal cord dysfunction. Because its symptoms may resemble those of intracranial tumors, patients can be misdiagnosed and undergo inappropriate spinal procedures. We describe three patients initially treated with cervical decompression under the impression of CSM. In each case, neurological deficits failed to improve, or even progressed, despite adequate surgery. Further investigation with brain MRI disclosed large meningiomas located in the frontoparietal or parasagittal regions. All tumors were completely resected, pathology confirmed WHO Grade I meningioma, and the patients showed meaningful neurological recovery. These observations remind us that neurological findings must be interpreted in parallel with cervical imaging. A brain MRI should be obtained whenever clinical features are disproportionate to spinal pathology, extend beyond the usual pattern of myelopathy, or remain unresolved after decompression.

West Nile virus (WNV) is the most common mosquito-borne infection in North America; while most cases are asymptomatic, fewer than 1% develop neuroinvasive disease with significant morbidity and mortality. We report a 57-year-old man from rural Wisconsin who presented with a 10-week history of progressive asymmetric quadriparesis and severe intractable pain, preceded by fatigue, shoulder pain, and paresthesias. Neurologic examination demonstrated mild encephalopathy, bulbar involvement, and mixed upper and lower motor neuron signs. MRI showed patchy thoracic cord T2 hyperintensities and diffuse lumbar ventral root enhancement. Electrodiagnostic studies revealed diffuse active denervation and reduced compound muscle action potentials, initially raising concern for amyotrophic lateral sclerosis. Elevated WNV IgM and IgG titers in serum and cerebrospinal fluid confirmed neuroinvasive WNV infection. Despite treatment with corticosteroids and intravenous immunoglobulin, the patient deteriorated and was transitioned to hospice care. Autopsy demonstrated T-cell-mediated meningoencephalitis with widespread lymphocytic inflammation involving motor neurons, spinal cord, ventral rootlets, and peripheral nerves, consistent with diffuse axonopathy. This case underscores that neuroinvasive WNV may closely mimic motor neuron disease and emphasizes the importance of serologic testing for accurate diagnosis. Management remains supportive, and outcomes can be severe due to extensive central and peripheral nervous system involvement.

Beta-adrenergic blockers are effective in migraine prevention but can induce neuropsychiatric side effects, including vivid dreams and nightmares. Their lipophilicity allows penetration of the central nervous system, where β1-adrenergic blockade may disrupt REM sleep, alter noradrenergic activity, and suppress melatonin secretion, contributing to emotionally intense dreams. While reported in cardiovascular patients, this adverse effect remains underrecognized in migraine therapy. Adult patients were identified from those seen in the outpatient department of the Clinical Hospital of University of Chile in Santiago between 2022 and 2024. We present three cases of patients with episodic migraine with aura who developed distressing, recurrent nightmares after initiating propranolol, or metoprolol. Symptoms emerged shortly after treatment initiation and resolved upon discontinuation. Nightmare content involved emotionally distressing themes, leading to significant psychological discomfort. Clinicians should be aware of vivid nightmares as a potential adverse effect of lipophilic beta-blockers in migraine prevention. Understanding this may enable patients to tolerate the symptom. If it impacts adherence and/or quality of life, a treatment change will be needed.

The introduction of computed tomography (CT) myelography for spinal diseases has allowed the diagnosis of several intradural and extradural etiologies. With the advent of water-soluble, nonionic contrast agents, the safety and availability of this technique have expanded. Although magnetic resonance imaging (MRI) has faded the indications for CT myelography, some specific conditions and settings still benefit from the functional flow of contrast in the subarachnoid space and/or the patient's particular limitations in performing MRI (especially in the presence of intense metallic artifacts). We present the case of a 23-year-old male patient who underwent long-term follow-up for an intramedullary epidermoid cyst. At the time of diagnosis, the patient complained of right lower limb tremor and pain, which progressed to leg weakness, with no congenital abnormality. His first surgery resulted in a mass resection without spinal fixation. Three years later, thoracic canal stenosis and kyphosis were diagnosed, leading to a second surgery, consisting of laminectomy and cervicothoracic fixation. At 8 years of age, worsening weakness and sphincter issues prompted further evaluations. CT myelography revealed upper thoracic cord enlargement. An intramedullary epidermoid cyst was diagnosed, and the patient underwent a new gross total resection. CT myelography is not obsolete. Patients requiring spine imaging for oncologic control and/or new or worsening neurological symptoms may benefit from CT myelography when standard spine MRI cannot be performed. Epidermoid cysts require long-term postoperative follow-up, as recurrence may occur years after surgical resection owing to their indolent, benign behavior.

Fahr's syndrome is a rare, slowly progressive neurodegenerative disorder characterised by bilateral cerebral calcifications, mostly in the basal ganglia. These cerebral calcifications are composed of calcium and phosphate and are the result of disturbances in calcium-phosphate homeostasis. The clinical manifestations include neurological, neurocognitive and psychiatric symptoms. This article describes three rare cases of pronounced bilateral cerebral calcifications. All three patients were admitted to the hospital due to a first-time epileptic seizure. In all three cases, laboratory tests showed significant hypocalcaemia, and cerebral computed tomography showed pronounced bilateral cerebral calcifications in various brain areas. After calcium substitution and anticonvulsant treatment, the patients returned to their prehospital condition and were discharged home seizure free. The aim of this article is to highlight the clinical importance of long-term follow-up biochemical laboratory testing and neurocranial imaging in high-risk patients (e.g., after thyroidectomy) to prevent avoidable neurological and psychiatric complications through pharmaceutical and nutritional substitution therapy.

Treatment for chronic myeloid leukemia (CML) with tyrosine kinase inhibitors (TKIs), especially nilotinib and ponatinib, has been associated with atheromatic vascular adverse events including cerebrovascular disease. Herein, we present two patients with CML and long-term nilotinib treatment, who developed severe carotid atherosclerotic stenoses, both extra- and intracranial, resulting in ischemic stroke. The clinical and radiological findings as well as the possible pathophysiological mechanisms of these clinically significant complications are discussed. It seems that new-generation TKIs such as nilotinib, ponatinib, and, to a far lesser extent, bosutinib increase the incidence of vascular occlusive events compared to imatinib, in a dose- and duration-dependent manner. The mechanisms leading to vasculopathy are various and comprise promoting a prothrombotic platelet state, the dysregulation of glucose and lipid metabolism, increase of inflammatory cytokines, and affecting vessel wall endothelial cells. Regarding the outcome of cerebrovascular events, it seems that the discontinuation of TKIs alone or switching to a safer one is insufficient to resolve the stenoses of the cerebral arteries, even under dual antiplatelet treatment, anticoagulation, or high-potency statin therapy. Thus, revascularization strategies such as extracranial to intracranial bypass surgery or stenting should be considered, especially when there is no improvement with medical treatment. These observations expand our knowledge on the association between TKIs and cerebral vascular disease, as well as provide more insights into the underlying pathogenesis. TKIs should not only be selected based on disease-related variables but also based on patient-related factors such as cardiovascular comorbidities.

Systemic lupus erythematosus (SLE) increases the risk of morbidities during pregnancy, including stroke, thrombophilia, and antepartum bleeding. There are few case reports in English literature where bilateral cortical blindness has been described for a pregnant subject with prior SLE. In this report, a 32-year-old primigravida, a known case of SLE, was admitted with premature rupture of membranes at 34 weeks of gestation. Three hours after admission, due to vaginal bleeding, a healthy baby was delivered through emergency cesarean section under general anesthesia because of recent use of anticoagulants. In the recovery room, an elevated systolic blood pressure of 180 mmHg was noticed and controlled. After recovery, the patient complained of severe blurred vision. There were no abnormal findings on ophthalmologic examination but her brain MRI revealed bilateral occipital lesions. Bilateral cortical blindness is a rare incident during the pregnancy of an SLE patient without preeclampsia or eclampsia. Differential diagnoses, considering all the evidences, were posterior reversible encephalopathy syndrome (PRES) and ischemic stroke. Finally, we discuss the challenges of making a definitive final diagnosis, the importance of close follow-up for such cases, and control of underlying disease before pregnancy in such cases.

Introduction: Generalized myasthenia gravis (gMG) is an autoimmune disorder impairing neuromuscular transmission, most commonly through anti-AChR antibodies that activate the complement cascade. This can lead to severe complications such as myasthenic crisis (MC), which often requires intensive care. While plasma exchange (PLEX) and intravenous immunoglobulins (IVIG) are standard first-line therapies, approximately 30% of patients may show suboptimal response. Ravulizumab, a long-acting C5 complement inhibitor, has been approved for anti-AChR-positive gMG, but data on its use in MC remain limited.

Case presentation: We report a 62-year-old male with late-onset, anti-AChR-positive gMG who presented with refractory MC, unresponsive to five PLEX sessions and IVIG. After infectious disease evaluation, meningococcal prophylaxis, and antibiotic coverage, a single intravenous loading dose of ravulizumab (2700 mg) was administered on ICU Day 9.

Clinical response: Marked clinical improvement was observed within 48 h, including reduction in ventilatory support (pressure support decreased from 16 to 6 cmH₂O over five days), improved cough, secretion management, and eventual successful extubation on Day 17. By Day 21, the patient resumed oral feeding and was transferred out of ICU with stable respiratory function and neurological improvement.

Conclusion: This case suggests that ravulizumab may provide rapid and sustained benefit in anti-AChR-positive patients experiencing refractory MC. Complement inhibition led to early ventilatory and neuromuscular recovery despite prior treatment failure. These findings support further investigation of ravulizumab as rescue therapy in acute, treatment-resistant gMG exacerbations.

Muscle stiffness or rigidity is a common problem yet is addressed in few studies. Patients with muscle rigidity/spasticity due to injury of upper motor neurons or genetic muscle diseases are sometimes treated with dantrolene. It is not widely used to treat muscle tightness in patients with a negative workup. Here, we present a 62-year-old neuromuscular physician with no family history of hereditary neuromuscular disease who presented with prolonged, episodic muscle rigidity causing significant functional limitations. Next-generation sequencing identified a heterozygous calpain 3 (CAPN3) variant [NM_000070.3(CAPN3):c.2393C > A (p.Ala798Glu)] categorized as pathogenic for autosomal-recessive CAPN3-related limb girdle muscular dystrophy type 1 (LGMD R1), which is of unclear significance. He was treated with dantrolene and showed marked functional gains that were lost with attempts to wean off medication. This case suggests that there may be a subset of patients suffering from muscle tightness who benefit from dantrolene.

This case report describes outcomes of three cases with benign paroxysmal positional vertigo (BPPV) who presented with an inability to state the symptoms of BPPV. The diagnosis is driven by patient-reported symptoms during positional testing or movement changes. People with traumatic brain injuries (TBIs) can have BPPV but report no symptoms of spinning (vestibular agnosia). The case report demonstrates that functional improvements are made in patients with vestibular agnosia. All cases were seen in an inpatient rehabilitation unit. Case 1 presented with a bilateral TBI with a daily Agitated Behavior Scale score of 41/56. She had right posterior canal BPPV yet reported no symptoms. Upon the completion of BPPV treatment, her daily Agitated Behavior Scale score decreased to 23/56. Case 2 had a multicompartment hemorrhage, with a Functional Gait Assessment (FGA) score of 11/30 before positional testing. He had right torsional upbeating nystagmus on the right Dix-Hallpike test, yet he reported no symptoms during the maneuver. After repositioning (same treatment session), his FGA improved to 19/30. Case 3 presented with a left subdural hematoma. He had left posterior canal BPPV with no symptoms during the Dix-Hallpike test. His FGA before testing was 19/30; immediately after the repositioning maneuver, his FGA was 24/30. Cases 2 and 3 met the minimally clinically important difference for the FGA of four points in the same session. People post-TBI with vestibular agnosia should be quickly treated as the canalith repositioning maneuver may reduce agitation and improve gait.