Case Reports in Neurology最新文献

Introduction: Baló's concentric sclerosis (BCS) is a rare subtype of multiple sclerosis characterized by inflammatory demyelination within the central nervous system.

Case presentation: This case report presents a challenging diagnostic scenario involving a 26-year-old woman diagnosed with BCS. Despite treatment, her condition did not ameliorate, and magnetic resonance imaging (MRI) findings remained unchanged. A subsequent stereotactic biopsy revealed tumefactive Balo disease, highlighting the intricate diagnostic and therapeutic issues surrounding BCS.

Conclusion: The juxtacortical location of the BCS lesion, as observed in our case, suggests an unfavourable prognosis due to treatment-resistant seizures.

Spinal cord infarction (SCI) is a rare neurovascular disorder often presented with acute spinal cord syndrome. The diagnosis is generally made clinically, with appropriate neuroimaging to confirm the diagnosis and exclude other causes. We present an unusual case of a 48-year-old woman with no relevant past medical history, admitted with acute paraparesis and a spinal cord infarct on magnetic resonance imaging. A thorough investigation revealed asymptomatic unknown heart failure secondary to hypertrophic cardiomyopathy, suggestive of a cardioembolic etiology. The patient was treated with anticoagulation and improved significantly with physical rehabilitation.

The Parkinson's disease-amyotrophic lateral sclerosis (ALS) complex typically manifests as levodopa-responsive parkinsonism, followed by ALS. It is extremely rare for Parkinson's disease and ALS to coexist without other neurological disorders. Named after the scientists who first described this overlap of two neurodegenerative conditions, it is referred to as Brait-Fahn-Schwartz disease. Given its variable presentation, increasing rarity, and lack of any diagnostic test, it poses a diagnostic challenge for physicians. We present a case of a 55-year-old Pakistani male experiencing progressive quadriparesis with spastic lower limbs and flaccid upper limbs, in addition to the cardinal features of idiopathic Parkinson's disease. Since there is currently no cure available for either Parkinson's disease or ALS, all available treatment focuses on improving quality of life, which we achieved in our patient. This case is unique in being the first incidence of Parkinson's disease-ALS complex in a novel geographic region such as Pakistan, where genetic testing and cost constraints limit the diagnosis of rare disorders. The coexistence of extrapyramidal symptoms and pyramidal symptoms is uncommon. In such situations, physicians may overlook one group of symptoms, potentially leading to a misdiagnosis. This case highlights the value of a thorough physical examination and electrodiagnostic studies and suggests the association between Parkinson's disease and ALS. This case demonstrates the significance of understanding when Parkinson's disease symptoms start to appear in patients with ALS and the need to start dopaminergic therapy in those who had Parkinson's disease features before ALS to alleviate the suffering of an individual and enhance quality of life.

Matricidal carotid cavernous aneurysm (CCA) is a rare and dangerous condition. The treatment failure of the endovascular approach like flow diversion, coiling, or stent-coiling is relatively high with considerable morbidity and mortality. The transcirculation approach is an alternative treatment option, but in case of matricidal CCAs, the results are not well documented in the literature. The authors present a complicated case of an unsuccessful transcirculation approach for matricidal CCA finally treated with sacrifice of the parent artery and high-flow bypass.

Botulinum toxin-A (BoNT-A) is recommended as third-line off-label treatment for the management of neuropathic pain. BoNT-A has been reported as treatment for different neuropathic pain conditions; however, not for neuropathic pain after decompressive craniotomy for stroke. The aim of this retrospective case series is to provide information on safety, the effect, and the application method of BoNT-A in clinical practice for the treatment of neuropathic pain after trepanation. This case series describes 2 patients treated in 2021 at a BoNT outpatient clinic for chronic neuropathic pain at the incisional site after decompressive craniotomy for stroke who were resistant to pain medication. Cases were a 48-year-old woman and a 63-year-old man suffering from chronic neuropathic pain since 3 and 6 years, respectively. They were treated regularly with BoNT-A with a total dose of 100 mouse units of incobotulinumtoxin-A injected into peri-incisional sites of the scalp. Both patients reported subjective decrease in pain frequency (40% and 60%), in pain intensity (60% and 90%), and an increase of quality of life (80%). BoNT-A should be further investigated as treatment for neuropathic pain - especially in underreported conditions such as neuropathic pain after craniotomy in stroke.

Stiff person syndrome (SPS) is an extremely rare disease that presents with episodic painful muscle spasms and progressive muscle rigidity. Recent evidence suggests that SPS can rarely manifest with life-threatening respiratory complications. However, the pathophysiology behind respiratory failure in SPS is still not clearly understood. Here, we explored an extremely rare case of a 36-year-old African-American female with SPS presenting with multiple episodes of respiratory failure events for the past 9 years. She had an in-situ tracheostomy and was admitted to the hospital for tracheostomy evaluation and decannulation. 11 years ago she initially presented with gait abnormalities, stiffness, and spastic episodes. She was diagnosed 1 year later with SPS after detecting elevated anti-glutamic acid decarboxylase antibody levels in her blood. Through this report, we were able to follow a very rare case of SPS that presented with multiple episodes of respiratory failure. We pointed out the importance of early start and regular administration of diazepam, baclofen, and IVIg in not only controlling the symptoms and progression of the disease but also in preventing further respiratory failure and possible sudden death.

Prodromal dementia with Lewy bodies (DLB) refers to a state prior to the onset of dementia with clinical signs or symptoms that may indicate the future development of DLB. Prodromal symptoms can include not only cognitive deficits but also a mix of clinical features including sleep disorders, autonomic dysfunction, and neuro-psychiatric disturbances. While diagnostic criteria for the subtypes of prodromal DLB were recently published, they are largely used in research settings. However, these criteria have important implications for clinical practice. Recognition of prodromal DLB stages can lead to identifying deficits sooner, improved patient and family counseling, and advance care planning. This case series presents examples of the 3 subtypes of prodromal DLB - mild cognitive impairment onset, delirium onset, and psychiatric onset - to help clinicians identify individuals who may be on a trajectory to develop DLB.

West Nile virus (WNV) is classified as a Flavivirus, belonging to a Japanese encephalitis subgroup often transmitted via mosquitoes. The classic presentation of a WNV infection usually displays high fevers, myalgias, and headache which can progress to neck stiffness, stupor, and coma (Case Rep Infect Dis. 2020;2020:6501658). Our case study presented with a rare manifestation of ascending paralysis, encompassing the feared neuroinvasive disease pattern that is seldom exhibited. This case had an unusual presentation as certain manifestations experienced by our patient closely resembled that of Guillain-Barré syndrome, although others were more indicative of poliomyelitis-like syndrome. Overall, the mainstay of therapy in both conditions is supportive care, although the prognosis varies substantially depending on the underlying diagnosis.

COVID-19 is a novel virus which causes a variety of clinical manifestations in the body, some of which are yet to be discovered. The main aim of our study is to highlight the neurological manifestations of COVID-19 as it is still new to the medical world, and to emphasize the fact that the physicians have to be wary of the possibility that patients affected by COVID-19 can present with encephalitis. Only a few studies are available so far regarding the neurological manifestations of this novel virus which highlights the need for this study. We present a case series of 4 patients who were found to have COVID-19 encephalitis. There is still no disease-defining test for diagnosis so the mainstay of diagnosis is exclusion of all the common causes of encephalitis. Brain magnetic resonance imaging and cerebrospinal fluid analysis performs an ancillary in the diagnostic tools. Our study also supports the use of IV tocilizumab (4-8 mg/kg) and IV methylprednisolone (0.5-2 mg/kg) as possible treatment options with good results, as the patients described in our case series responded well to these medications.

Dominant mutations in serine palmitoyltransferase long chain base subunit 1 (SPTLC1), a known cause of hereditary sensory autonomic neuropathy type 1 (HSAN1), are a recently identified cause of juvenile amyotrophic lateral sclerosis (JALS) with slow progression. We present a case of SPTLC1-associated JALS followed for 30 years. She was initially evaluated at age 22 years for upper extremity weakness. She experienced gradual decline in muscle strength with development of weakness and hyperreflexia in lower extremities and diffuse fasciculations in the upper extremities at 26 years. She lost independent ambulation at age 45 years. Pulmonary function declined from a forced vital capacity of 94% predicted at 27 years to 49% predicted at 47 years, and she was hospitalized twice for respiratory failure. To our knowledge, this is the longest documented follow-up period of JALS caused by a de novo pathogenic variant in SPTLC1.