Case Reports in Neurological Medicine最新文献

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.

Sporadic Creutzfeldt-Jakob disease (CJD) is a rare but universally fatal condition with cardinal symptoms of rapidly progressive dementia and myoclonus. Wernicke encephalopathy (WE) is a reversible condition often presenting with the triad of altered mental status, ophthalmoplegia, and ataxia. Previous case reports have demonstrated overlap in the clinical features, imaging, and laboratory testing of CJD and WE. Here, we present the case of a 60-year-old female who presented with prominent aphasia and ataxia, lacking myoclonus and specific electroencephalogram (EEG) findings of CJD. Our patient's presentation was initially most suspicious for WE in the setting of alcohol use disorder, though maintaining a broad differential prompted extensive workup. Brain magnetic resonance imaging (MRI) was a key factor in distinguishing this case, as there were no lesions in the thalami, mammillary bodies, or periaqueductal gray matter, areas strongly associated with WE. Cerebrospinal fluid (CSF) testing for RT-QuIC, T-Tau protein and 14-3-3 GAMMA, and ultimately autopsy confirmed the diagnosis of sporadic CJD. We compare the clinical features, MRI, and EEG findings of our patient to those of similar cases, recognizing common areas of involvement that are also affected in WE. This case brings further attention to the variable presentation and clinical overlap of CJD with other neuropsychiatric diseases. We therefore endorse strong recommendations for maintaining a broad differential in patients presenting with nonspecific neurological complaints and promptly evaluating with MRI to better localize the affected areas.

The discoblock procedure entails the administration of an anesthetic agent during discography to pinpoint the origin of spinal pain in challenging diagnostic scenarios. Known for its minimal complication rate, the most frequently documented adverse effect is discitis. This case report introduces a novel observation of subarachnoid hemorrhage following a discoblock procedure. Initially presenting with persistent lower back pain, the patient exhibited dehydrated lumbar discs on imaging, characterized by altered T2 signal intensity and a diffuse disc bulge impacting the anterior thecal sac at the L4-5 level, alongside degenerative scoliosis at L2-3. These findings suggested the potential origins of symptoms at L4-5 or L2-3, leading to the decision to proceed with L4-5 discoblock. Symptom alleviation postdiscoblock, coupled with prophylactic cefazolin administration, indicated the necessity for further management at the L4-5 disc level. Subsequently, the patient presented with status epilepticus 9 hours later, with brain magnetic resonance imaging revealing anomalous hyperintensities in the left temporoparietal sulci and the left ambient cistern, prompting suspicion of subarachnoid hemorrhage. This study elucidates the procedural indications for discoblock, explores potential factors contributing to complications, and delves into the safety considerations surrounding this intervention.

Motor neuron diseases (MND) are a group of rare, often severe, and life-limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression. The Department of Neurology at Martin Luther University Halle (Germany) followed a male patient with slowly progressive muscle loss, muscle weakness, and muscle pain in the proximal upper arm and shoulder muscles over a period of 10 years and collected clinical, electrophysiological, neuroradiological, laboratory, and genetic data. Clinical neurological and electrophysiological diagnostics clearly indicated MND. A detailed genetic analysis resulted in the first description of an in-frame mutation (heterozygous, c.5691_5693delGGA) in the RYR1 gene (ryanodine receptor 1), which is unknown in MND or RYR1-related neuromuscular disorders. Mutations in RYR1 are associated with various motor disabilities due to muscle weakness. The specific role of RYR1 mutations in the genetic pathogenesis of MND has never been described before and is currently unknown. This case is the first of its kind demonstrating a RYR1 mutation in MND, broadening the spectrum of pathogenetic causes of MND.

This case report presents a 47-year-old female who developed Creutzfeldt-Jakob disease (CJD) in a patient who had recently experienced a COVID-19 infection. The patient initially experienced speech changes and cognitive decline approximately 4-5 weeks after recovering from COVID-19. Over the course of several months, her condition rapidly deteriorated, progressing to severe neurocognitive decline, including catatonia, aggression, and delusions. Diagnostic findings included cortical ribboning on MRI, generalized periodic discharges on EEG, and elevated tau and 14-3-3 proteins with positive RT-QuIC in CSF analysis. Despite various treatments, including methylprednisolone and IVIG, the patient's condition worsened, leading to hospice care within a year of symptom onset. This case illustrates the diagnostic challenges in distinguishing prion diseases from other postviral complications, particularly when presuming a parainfectious inflammatory process without supporting evidence, which may delay definitive testing such as RT-QuIC. No causal relationship between COVID-19 and CJD can be established from this single case. This report underlines the need for further research into potential post-COVID-19 neurological complications.