Case Reports in Neurological Medicine最新文献

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.

Introduction: Autosomal dominant Alzheimer's disease (ADAD), especially due to presenilin-1 (PSEN-1) gene mutations, may display a broad spectrum of clinical manifestations and neuroradiological findings. Occasionally, these manifestations may be rare and atypical, challenging the clinician's ability to recognize the disease. The description of the clinical characteristics and neuroradiological remarks of patients with specific mutations may improve clinicians' ability to identify them.

Case presentation: We report the case of a woman who presented with early-onset, rapidly progressive dementia associated with bilateral hyperintensity of the medial temporal lobe on T2-weighted MRI. After more common etiologies were excluded, genetic testing revealed a PSEN-1 C779T mutation. Notably, her brother, who carried the same mutation, did not exhibit these atypical neuroradiological findings.

Conclusions: This case underscores the phenotypic variability associated with PSEN-1 mutations, even among individuals within the same family. Such variability and the possibility of atypical presentations may complicate the diagnostic process. In the presence of early-onset and rapidly progressive dementia associated with bilateral hyperintensity of the medial temporal lobe, ADAD and PSEN-1 mutation may be suspected and need to be addressed.

We report a 73-year-old man transferred for evaluation of suspected aneurysmal subarachnoid hemorrhage after his first-ever thunderclap headache episode. It was noted on the second day of the disease left hemiparesis. On MRI, the hemorrhage was of the perimesencephalic type and was associated with an early right paramedian pontine infarction. Angiography did not reveal an aneurismal source for the bleeding, arterial dissection, nor vertebrobasilar vasospasm. Synchronic pontine infarction with perimesencephalic hemorrhage is an unusual syndrome ascribed to the rupture of a perforator superficial arterial segment, as described by Hochberg and Miller Fisher in a case report with autopsy. The absence of a bleeding source for subarachnoid hemorrhage and the presence of ischemic paramedian pontine perforator reinforce the role of artery rupture in the etiology of this case in particular but also as the main cause of concomitant hemorrhagic-ischemic brainstem syndrome. The patient had a satisfactory recovery and was treated with antiplatelet therapy, statins, and rehabilitation. Paramedian pontine infarction and perimesencephalic hemorrhage should be considered a concomitant hemorrhagic-ischemic syndrome suggesting basilar perforator rupture as the etiologic mechanism of the stroke, although rare.

Postoperative cerebral vasospasm is usually triggered by vasoactive metabolic blood products in the subarachnoid space but is rarely reported following resection of intrinsic diffuse lobar neoplasms such as malignant gliomas. This 34-year-old right-handed Caucasian lady underwent an uneventful resection of a right mesial temporal lobe glioblastoma with no postoperative neurological deficits. Eight days after her index surgery, she presented with left-sided hemiparesis and dysarthria and was found to have right M1 narrowing, consistent with cerebral vasospasm. Intra-arterial calcium channel blocker (CCB) administration and induced hypertension were started to treat the cerebral vasospasm and resulted in resolution of most of her neurological deficits. At 2 months postresection, she was noted to be without neurological deficits and able to proceed with appropriate adjuvant therapies for the glioblastoma. Postoperative cerebral vasospasm following resection of a glioblastoma can occur and present in a similar manner and timeframe as post-subarachnoid hemorrhage vasospasm. Prompt recognition of this condition followed by endovascular intervention and systemic treatments to improve cerebral perfusion are essential at reducing the risk of permanent cerebral ischemia and deficits.

Sudden respiratory insufficiency is commonly attributed to cardiopulmonary causes but may also herald underlying neuromuscular disorders. In this context, rare diseases in particular pose significant diagnostic challenges. Here, we report on a 27-year-old woman who presented with unexplained respiratory insufficiency, proximal muscle pain, and weakness. Initially, she was found unconscious with severe hypoxemia (oxygen saturation 41%), low respiratory rate (4/min), and hypotension, requiring emergency intubation. After treatment for pneumonia, persistent hypercapnia and hypoxemia were noted. Two months later, she reported muscle pain, reduced strength when climbing stairs, and swallowing difficulties. Physical examination showed symmetrical proximal paresis in arms and legs (MRC 4/5), dependence on hand support for head lifting, and inability to rise from a squat unaided. Reflexes were symmetrically reduced. There were no signs of myotonia. Medical history included kyphoscoliosis; family history was noncontributory for muscular disorders. In this case, we provide guidance on navigating the multiplicity of neuromuscular differential diagnoses in case of respiratory failure in combination with peripheral weakness, leading to the final diagnose of MEGF10 myopathy in this case.

Background: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is a novel inflammatory demyelinating disorder marked by heterogenous clinical and radiological manifestations. Pachymeningitis is a rare manifestation.

Case presentation: An 18-year-old male was hospitalized with fever, dizziness, altered consciousness, and seizure attacks. Serum testing was positive for MOG antibodies. Diffuse pachymeningitis with prominent dural vessel dilation was observed prior to treatment, which markedly improved after hormone therapy.

Conclusion: MOGAD pachymeningitis with dural vessel dilatation broadens the imaging spectrum of MOGAD.