Case Reports in Neurological Medicine最新文献

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.

Acute intermittent porphyria (AIP) is a rare hereditary metabolic disorder, manifesting in a series of neuropsychiatric symptoms and abdominal pain. Posterior reversible encephalopathy syndrome (PRES) is also an uncommon clinical syndrome characterized by localized cerebral edema in the posterior part of the brain, accompanied by abnormal signal changes in white matter areas. Typically, AIP lacks specific clinical symptoms and cranial imaging features, making the diagnosis difficult. In this case, a young male with AIP presented with intermittent abdominal pain prior to epilepsy. Therefore, the diagnosis of AIP should be considered when epilepsy is associated with PRES.

Herpes simplex virus (HSV) encephalitis is a disease treated with acyclovir (ACV). However, the neurotoxicity of ACV can lead to the development of ACV encephalopathy. While ACV is used to treat HSV encephalitis, the treatment for ACV encephalopathy is to discontinue the use of ACV. Electroencephalography (EEG) is useful for distinguishing ACV encephalopathy from HSV encephalitis. An 83-year-old male presented with fever and fatigue. He had no decline of renal function. By the fourth day, he experienced tonic-clonic seizures, right-sided conjugate deviation, and loss of consciousness, leading to a diagnosis of HSV encephalitis. He was treated with ACV, which resulted in acute kidney injury (AKI) and loss of consciousness. A diagnosis of ACV encephalopathy with AKI was confirmed by EEG. His treatment continued by vidarabine instead of ACV. His AKI improved after discontinuing ACV and performing plasma exchange, and his level of consciousness fully returned to normal. This case highlights the utility of EEG for distinguishing HSV encephalitis from ACV encephalopathy. We conducted the literature review, and AKI is considered as a risk factor for ACV encephalopathy in elderly patient using ACV or valacyclovir. However, we could not identify a cause for AKI in our case apart from the use of ACV.

Background: The association between cytomegalovirus (CMV) infection and multiple sclerosis (MS) remains unclear. CMV infection has been reported in MS patients treated with alemtuzumab, rituximab, and ocrelizumab, but its occurrence in patients receiving dimethyl fumarate (DMF) is less studied.

Objectives: This case report explores the potential relationship between DMF therapy and CMV infection in a relapsing-remitting MS (RRMS) patient, examining whether DMF-induced immune modulation contributed to CMV reactivation or primary infection.

Results: A 29-year-old male with RRMS, on DMF for four years without lymphopenia, developed elevated liver enzymes and splenomegaly. CMV serology showed IgG (60.7 U/L) and IgM (140.0 U/L), with detectable viral DNA (524 IU/mL). Epstein-Barr virus (EBV) IgG was positive, but IgM was negative. Hepatitis A/B, herpes simplex virus (HSV), and varicella tests were negative. DMF was paused for 3 months, and antiviral therapy led to reduced liver enzymes and CMV DNA levels. MS remained stable without new MRI lesions.

Conclusion: DMF therapy may contribute to CMV infection despite the patient's normal lymphocyte counts. It may be beneficial with routinely test with viral panel with patients with progression in MS. Further studies are needed to clarify the risk of CMV infection in DMF-treated MS patients.

Spasticity is one of the most common serious complications after stroke. Dry needling (DN) has been used to improve spasticity and motor function in patients poststroke. This case report aimed to present the DN effects of LI4 and TE5 acupuncture points on wrist flexor spasticity in a patient with stroke. The patient was a 57-year-old man with a 5-year history of right hemiplegia poststroke. DN was applied on LI4 and TE5 for three sessions, every other day, and each point for 1 minute. The patient was assessed before (T0), after 3 sessions of DN (T1), and after first (T2) and sixth weeks (T3) after the last session. After DN, wrist flexor spasticity decreased from "2" to "0" according to the Modified Modified Ashworth Scale and improvement remained at T2 and T3. The wrist active range of motion (ROM) significantly improved from 0° at T0 to 10° at T1, 45° at T2, and 35° at T3 follow-up. The patient showed improvements in wrist passive ROM from 75° at T0 to 82° at T1, 90° at T2, and 80° at T3. The total motor score of Fugl-Meyer assessment demonstrated small improvements (38 points at T0 to 45 at T2, again 38 at T3). Three sessions of DN at LI4 and TE5 exhibited positive effects on spasticity and wrist ROM in a patient with stroke. Further investigation using the DN technique on acupoints in stroke patients with spasticity is warranted.

Introduction: Guillain-Barré syndrome (GBS) and myasthenia gravis (MG) are rare autoimmune disorders that may share overlapping features such as ophthalmoparesis, limb weakness, and bulbar symptoms, complicating the differential diagnosis. Coexistence of GBS and MG or chronic inflammatory demyelinating polyneuropathy and MG, particularly the low-density lipoprotein receptor-related protein 4 (LRP4) antibody-positive subtypes, is extremely rare. We present such a case to highlight diagnostic challenges.

Case presentation: A 46-year-old man presented with distal weakness, sensory loss, facial diplegia, and dyspnea. Nerve conduction studies revealed demyelinating features, and cerebrospinal fluid analysis showed albuminocytologic dissociation. An acute demyelinating polyneuropathy, most likely GBS, was suspected, and clinical improvement was observed following plasmapheresis. Three weeks later, new symptoms including dysarthria and worsening bulbar weakness emerged. Repetitive nerve stimulation showed a decremental response. LRP4 antibodies were positive, confirming MG. The patient improved with intravenous immunoglobulin, corticosteroids, pyridostigmine, and azathioprine.

Conclusion: This case underscores the rare coexistence of acute demyelinating polyneuropathy and LRP4-positive MG. In acute demyelinating polyneuropathy patients with relapsing or worsening symptoms, coexisting MG should be considered. Comprehensive electrophysiological evaluation and antibody testing, including LRP4, are essential for the accurate diagnosis of both conditions.

Introduction: Peripheral nerve sheath tumours (PNST) are an important feature of the NF2-related schwannomatosis. These constitute primarily schwannomas which are characterized as nodular, solitary benign tumours of single fascicles. We here describe a pronounced, extensive, multifascicular enlargement of the right ulnar nerve and bilateral brachial plexus in a teenage patient with NF2-related schwannomatosis. Neither their imaging nor the clinical characterization were consistent with classic schwannomas.

Methods: Within a multimodal work-up, detailed and standardized high-resolution nerve ultrasound was correlated to clinical, electroneurographic, and MRI findings. Follow-up data over 2 years were provided.

Results: The clinical presentation of a slowly progressive, predominantly motor axonal neuropathy of the right ulnar nerve prompted a comprehensive nerve ultrasound examination, initiated by this clinically and neurophysiologically defined "sentinel" finding. Ultrasound imaging revealed an extensive, fusiform enlargement of the right ulnar nerve, as well as bilateral involvement of the brachial plexus, the latter without corresponding clinical symptoms. Subsequent genetic analysis confirmed the diagnosis of NF2-related schwannomatosis.

Discussion: Signs of a mononeuropathy are a frequent manifestation of NF2-related schwannomatosis in childhood. The here presented nerve imaging characteristics, however, did not correspond to classic schwannomas. The fusiform, long-extended, multifascicular enlargement with mixed hyper- and hypoechogenic components on ultrasound, as well as markedly T2-hyperintense and T1-isointense appearance with diffuse gadolinium enhancement on MRI, is consistent with perineurioma. These mesenchymal nerve tumours have rarely been described in NF2-related schwannomatosis. This association is further supported by the present case and highlights the necessity for additional peripheral nerve imaging studies in NF2-related schwannomatosis, including the application of high-resolution ultrasound.