Case Reports in Neurology最新文献

Introduction: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is reported to be a secondary cause of chronic intestinal pseudo-obstruction (CIPO). Although few case reports have described CIPO in MELAS, effective treatment for CIPO has not been established. Here, we present a case report of amelioration of CIPO symptoms using acotiamide in a patient with MELAS.

Case presentation: A 51-year-old Japanese female with a mitochondrial disorder with m.3243A>G mutation and a history of anorexia for 2 years presented to our hospital with a left temporal headache and acute paraphasia. A stroke-like episode of MELAS was suspected and combined therapy with arginine, edaravone, and levetiracetam was initiated. Although her symptoms improved, she presented with nausea and vomiting and abdominal distension 6 days following admission. Abdominal contrast-enhanced computed tomography revealed dilatation from the stomach to the intestine, particularly marked the stomach, with neither obstruction nor impaired blood flow in the intestine. CIPO exacerbation with MELAS was suspected, and the patient's symptoms gradually improved with acotiamide.

Conclusion: Patients with MELAS could possibly experience stroke-like episodes during CIPO. Since acetylcholine possibly plays an important role in the pathophysiology of CIPO and acotiamide possesses prokinetic activity by inhibiting acetylcholinesterase, acotiamide could possibly improve CIPO symptoms.

Introduction: Acute disseminated encephalomyelitis (ADEM) is an acute autoimmune demyelinating disease of the central nervous system that typically follows an acute viral infection or post-vaccination. It is more common in children than in adults and is characterized by widespread demyelination of the white matter of the brain and spinal cord. ADEM typically presents as a monophasic illness. Multiphasic ADEM has been an emerging topic with case reports highlighting the importance of the need for further investigation and literature on this topic. Multiphasic ADEM in adults is a rare presentation with an atypical course that can cause a delay in diagnosis leading to disability in patients.

Case presentation: Multiple case reports have shown the presence of multiphasic ADEM without an established cause, emphasizing the importance of additional insight and data in this context. This is a unique case of multiphasic ADEM in a 59-year-old male with a temporal gap of 26 years with an idiopathic cause. He was suffering from many neurologic symptoms involving his upper and lower extremities and level of consciousness, and after he was diagnosed with ADEM, he was commenced on steroids and achieved a marked improvement in his clinical status.

Conclusion: Rarely, ADEM can present with recurrence or multiple phases, which requires prompt diagnosis and treatment. These phases may or may not be preceded by an identifiable trigger. Most patients respond well to steroids. However, further studies are required to achieve a good understanding and guidelines when dealing with such cases.

Introduction: Anti-MuSK antibodies obstruct MuSK binding sites, leading to acetylcholine receptor (AChR) displacement within the postsynaptic membrane. MuSK MG patients often exhibit bulbar involvement and respiratory crises, setting them apart from other MG subtypes.

Case presentation: A case of a 51-year-old male with MuSK MG that presented as isolated respiratory failure was compared to similar cases in the literature. The objectives were to explore the varied clinical presentations, treatment approaches, and outcomes, and to better understand the management of this subgroup of MG. The patient responded well to treatment with pyridostigmine, steroids, and intravenous immunoglobulins and immunosuppressive therapy.

Conclusion: A review of the literature revealed varied clinical presentations and treatment approaches among reported cases. Long-term prognosis appears favorable, requiring ongoing immunosuppressive management. Although the reported outcomes of MuSK MG patients with respiratory insufficiency show substantial heterogeneity, long-term prognosis appears favorable.

Introduction: NF2-related schwannomatosis (NF2) is a rare inheritable autosomal dominant disorder characterized by multiple nervous system neoplasms.

Case presentation: In this report, we present a rare case of NF2 exhibiting the complete constellation of multiple inherited schwannomas, meningiomas, and ependymomas (MISME syndrome).

Conclusion: This is the first documented case of simultaneous occurrence of all three tumors in a single patient in the Philippines, adding to the sparse evidence of MISME syndrome in world literature.

Introduction: The pathophysiology of idiopathic intracranial hypertension (IIH) is not fully characterized, and less is known about its development in transgender patients. Several cases of IIH in transgender patients have been reported, but fewer cases have been published that identify a cerebrospinal fluid (CSF) leak as a complication of IIH in this population. These patients can serve as an important study population, as an association between exogenous testosterone use in karyotypical females and development of IIH may support a hormonally mediated mechanism of development of this disease.

Case presentation: We describe the case of a 33-year-old obese (BMI: 30.58 kg/m²) female-to-male transgender patient on exogenous testosterone for 15 years who presented with 1 month of acute or chronic headache with profuse rhinorrhea. Fundoscopic exam revealed disk pallor and edema consistent with a Frisen grade 3 papilledema. Nasal secretion was positive for beta-2 transferrin, consistent with CSF. Computed tomography head demonstrated a 5-mm defect in the medial left middle cranial fossa, bilateral optic nerve prominence and tortuosity, and abnormal arachnoid granulations concerning for IIH. After a successful endoscopic endonasal repair of the left lateral sphenoid recess leak, our patient continued to report headaches, was started on acetazolamide, and noted improvement in symptoms.

Conclusion: The case described herein further supports the growing body of evidence that implicates a hormonal mechanism of action in the development of IIH. Importantly, it also addresses the need for increased study and conversation about rare neurologic diseases in transgender patients.

Introduction: The pregnant state may cause or exacerbate existing neurological disease. Gliomas appear to be influenced by the physiological changes that occur during pregnancy. The pregnant state may also cause seizures, including status epilepticus. There are currently no defined treatment guidelines to direct clinical decision making, and many of the commonly employed therapies are contraindicated during pregnancy.

Case presentation: The current article describes the case of a 40-year-old G3P1101 female at 10 weeks' gestation, who sought medical care for recurrent left hemifacial twitching, eventually leading to nonconvulsive status epilepticus. Intubation and sedation were required to achieve seizure cessation. Imaging revealed a lobulated cystic mass in the right parietal lobe, suspicious for low-grade glioma. Despite thorough explanation of the potential risks, the patient adamantly wished to pursue surgical intervention. An uneventful craniotomy was performed for resection of a low-grade glioma. No patient or fetal complications were encountered, and the patient has not had any reported seizures since surgery.

Discussion: Managing complex neurosurgical diseases in pregnant patients provides both clinical and ethical quandaries. We describe the successful management of a patient presenting with status epilepticus caused by an underlying glioma during pregnancy. Although challenging, favorable neurosurgical outcomes are possible during pregnancy.

Introduction: Acute ischemic stroke can occur in the setting of aortic dissection. Information concerning the utility of endovascular mechanical thrombectomy as an intervention for patients with aortic dissection who are experiencing an acute stroke due to large vessel occlusion is limited to a few case reports. Case series of patients presenting with this clinical situation are needed to further investigate the potential utility of this procedure when patients with acute ischemic stroke and aortic dissection are encountered.

Case presentation: We report a patient with a chronic Stanford type A aortic dissection with dissection extension into the left common carotid artery and left internal carotid artery who had a good clinical outcome following mechanical thrombectomy for a symptomatic middle cerebral artery occlusion. We also review other cases in which endovascular mechanical thrombectomy was conducted in patients with aortic dissection and acute ischemic stroke and discuss the potential risks and benefits of carotid artery stenting in this clinical situation.

Conclusion: The rate of successful arterial recanalization in patients with aortic dissection, large vessel occlusion, and acute ischemic stroke treated with mechanical thrombectomy is high. The intervention has been associated with good neurological outcomes and a low rate of procedure-related complications. Additional case series are needed to help discern if our observations are present in a broader array of patients in order to identify which patients are most likely to benefit from mechanical thrombectomy.

Introduction: Coronavirus disease 2019 (COVID-19) encephalitis is characterized by viral entry into the brain, resulting in inflammation and a cascade of neuronal damage. Clinical manifestations include headaches, seizures, and movement disorders. A mortality rate of 20% and infrequent presentation make COVID-19 encephalitis a diagnostic challenge.

Case presentation: We hereby present the case of a 55-year-old man with a history of diabetes mellitus (potential impact on COVID-19 severity discussed in the supplementary material) presenting with altered sensorium, swelling in the left eye, and involuntary jerky limb movements. Neurological examination revealed neck rigidity, myoclonic jerks, and an extensor plantar response. Brain magnetic resonance imaging (MRI) was performed, which revealed cortical enhancement in the bifrontal, temporal, and occipital lobes. Rapid progression of myoclonus, altered sensorium, and cortical enhancement on MRI suggested Creutzfeldt-Jacob disease. After a thorough workup, the diagnosis was COVID-19 encephalitis with rhino-orbital mucormycosis. The treatment regimen consisted of adequate glycemic control, remdesivir injection, intravenous and retroorbital liposomal amphotericin, and levetiracetam. The patient's condition improved, and he was eventually discharged.

Conclusion: This case illustrates the uncommon presentation of COVID-19 with neurological involvement and emphasizes the value of history-taking, neuroimaging, and cerebrospinal fluid analysis. A high index of suspicion is critical for a prompt diagnosis and initiating therapy.

Introduction: Bradykinesia, characterized by slowed movement, stands out as a primary symptom observed in individuals with Parkinson's disease (PD). Nonetheless, there are instances where PD patients exhibit sudden and effective movements despite the presence of bradykinesia. This phenomenon, referred to as paradoxical kinesia, has remained a subject of interest for neuroscientists, who have struggled to unravel its underlying neural mechanisms for decades.

Case presentation: We describe a patient who is suffering from advanced PD. The patient has severe motor limitations, including difficulty rising from bed and walking, as well as cognitive decline and visual impairment. However, an interesting occurrence took place during a nightmare episode. Surprisingly, the patient was able to get out of bed and quickly run away from the perceived threat within the nightmare, without any assistance.

Conclusion: This report presents the first documented case of paradoxical kinesia induced by nightmares in a patient with PD. This phenomenon raises questions about the neurological mechanisms involved, which are still not fully understood. Based on existing research conducted on both animal and human subjects, we propose that after processing the emotion of fear, the brain aversive system activates motor outputs to generate appropriate behavior. Thus, the brain aversive system converts the emotion of fear into action through projections from the inferior colliculus to motor-related areas such as the mesencephalic locomotor region, pontine nuclei, and substantia nigra.

Introduction: Akinetic mutism is a severe state of impaired volition that can result from a stroke. Its therapeutic evidence relies on single case reports that used atomoxetine or levodopa with variable latency and efficacy.

Case presentation: We present the case of a 54-year-old woman who developed akinetic mutism after infarction in the territory of the right anterior cerebral artery, successfully treated with methylphenidate and levodopa/benserazide. Clinical examination showed a patient lacking any spontaneous speech and movement while opening her eyes and fixating. Suspecting akinetic mutism after a comprehensive diagnostic work-up, we started an individual therapy attempt with methylphenidate 10 mg and levodopa/benserazide 100/25 mg twice daily. Both drugs affect the dopaminergic and noradrenergic transmission in the frontal-subcortical circuit, compromised in akinetic mutism. We saw rapid and sustained improvement in her volitional actions, devoid of side effects. Finally, the patient was actively communicating and moving her limbs.

Conclusion: We discuss the patient's favorable clinical course in response to the synergistic combination of methylphenidate and levodopa/benserazide, emerging as a promising treatment strategy, and provide a brief literature review of treatment options in akinetic mutism following stroke.