Case Reports in Neurological Medicine最新文献

Guillain-Barré syndrome (GBS) is an acute immune-mediated polyradiculoneuropathy typically presenting with progressive limb weakness and areflexia, while bilateral facial nerve involvement is a well-recognized feature. However, unilateral facial palsy is exceedingly rare and can closely mimic Bell's palsy, complicating early diagnosis. We report the case of a previously healthy 32-year-old man whose illness began with subtle bilateral fingertip numbness ascending to his elbows, followed by the acute onset of right-sided facial weakness, perioral numbness, slurred speech, and inability to close his right eye. These symptoms developed shortly after an upper respiratory tract infection and were soon accompanied by toe numbness and gait unsteadiness. Examination revealed isolated right lower motor neuron facial palsy and a rapid progression from diminished to absent deep tendon reflexes, while muscle strength and general sensation remained preserved. The diagnosis of GBS was confirmed by absent reflexes, albuminocytologic dissociation in cerebrospinal fluid, and electrodiagnostic evidence of bilateral facial and trigeminal neuropathy. The patient was treated successfully with intravenous immunoglobulin, resulting in significant clinical improvement. This case underscores the diagnostic challenges of atypical GBS presentations and highlights the importance of considering GBS in patients with acute, evolving cranial neuropathies, even when the presentation closely resembles more common conditions such as Bell's palsy.

Reduced knee flexion during the swing phase of gait, commonly referred to as 'stiff knee gait,' is frequently encountered in patients with upper motor neuron syndrome, e.g., due to stroke. Rectus femoris spasticity is one of the main causes of stiff knee gait and can be treated with botulinum toxin (BoNT-A) injections. However, previous literature shows large response variations after BoNT-A treatment between individual participants. These variations could be due to the overestimation of rectus femoris spasticity during gait analyses based on the current main indicator: mid-swing rectus femoris activity. The objective of this video-illustrated case series, including gait data of four stroke patients with stiff knee gait, is to propose an alternative explanation for this mid-swing rectus femoris activity. The presented patients all show mid-swing rectus femoris activity, which could be considered a sign of spasticity but was interpreted as compensatory activity to improve foot clearance during the swing phase instead. Misinterpretation of compensatory rectus femoris activity as spasticity may lead to inadequate treatment with BoNT-A injections in some patients, possibly explaining the response variations found in previous literature. Additional biomechanical markers should be explored to better determine the contribution of rectus femoris spasticity in stiff knee in individual patients.

Choreas associated with antiphospholipid antibody syndrome (APS) are rare, and those linked to transient antibody positivity without APS are even rarer. This case report presents a unique and instructive instance of generalized chorea in an elderly patient associated with antiphospholipid antibodies, highlighting the diagnostic value of FDG-PET in such an uncommon case, which may help guide an etiology-based therapeutic management.

Fanconi anemia is a rare genetic disorder characterized by impaired DNA repair, leading to bone marrow failure, congenital anomalies, and increased cancer risk. Intellectual disability and developmental disorders in Fanconi anemia have been briefly described in previous studies, but there has been limited in-depth examination of cognitive functioning associated with Fanconi anemia. This case report presents comprehensive neuropsychological findings from a 39-year-old woman with Fanconi anemia, detailing significant cognitive impairment, including intellectual disability with concomitant deficits in learning and memory, processing speed, and complex attention/executive functions, while basic language and basic visuospatial skills remained relatively preserved. Neuroimaging revealed nonspecific cerebral calcifications. This cognitive profile aligns with limited existing reports suggesting intellectual disability and global cognitive impairment in Fanconi anemia. This case highlights the critical gap in Fanconi anemia literature regarding comprehensive neuropsychological data and underscores the necessity of systematic cognitive assessments in this population. Future research should include large-scale and longitudinal studies, potentially incorporating standardized cognitive testing within existing frameworks such as the International Fanconi Anemia Registry, to better characterize and understand cognitive trajectories and to develop targeted interventions to enhance the quality of life in individuals with Fanconi anemia.

Introduction: Yam is a major staple food in Nigeria and most of sub-Saharan Africa, and it is consumed in several forms. Dioscorea dumetorum is the bitter yam species found mainly in our locality. Bitter yam when undercooked can cause encephalopathy with patients presenting mainly with altered sensorium and convulsions. The cases reported here are unique because of their rarity and favourable response to supportive treatment, and they also serve to add to the existing literature on this potentially reversible cause of acute encephalopathy. Method: We report two adult male patients who presented to our facility 2 months apart with multiple convulsions and unconsciousness shortly after ingestion of undercooked bitter yam. A diagnosis of generalized convulsive status epilepticus and acute repetitive seizures secondary to bitter yam poisoning was made, respectively, and they were managed successfully with intravenous phenytoin and both made a complete recovery. Conclusion: These cases highlight the need for more awareness among clinicians regarding the neurological manifestations of bitter yam toxicity when poorly prepared and also for education of the public on preventive measures.

Anterior opercular syndrome (a.k.a. Foix-Chavany-Marie syndrome) is a rare neurological condition, described as a paralysis of the mouth and tongue usually caused by a bilateral lesion of the frontal opercular area. The patient presents with speaking, chewing, and swallowing impairment, but autonomic and emotional functions-like smiling and yawning-are typically preserved. We present our patient's clinical data after critical analysis, together with a brief literature review about anterior opercular syndrome caused by unilateral opercular lesions. To our knowledge, less than 20 cases of anterior opercular syndrome caused by unilateral lesions are described in the literature. In some patients, a contralateral lesion can be detected on brain imaging in regions different from the anterior opercular cortex. This syndrome can rarely occur as a consequence of unilateral opercular cortex damage. The possible role of contralateral lesions located in neuronal pathways functionally related to the anterior operculum requires further investigation.

This study reports the clinical response and potential mechanisms of bilateral dual cervical sympathetic blocks, commonly referred to as stellate ganglion blocks (SGBs), in treating long-term symptoms following a mild traumatic brain injury (TBI). While previous research has shown that SGB can alleviate symptoms in patients with both TBI and posttraumatic stress disorder (PTSD), its utility for isolated post-TBI symptoms without concurrent PTSD remains unclear. In this case, a patient suffering from persistent symptoms for over a year following a mild TBI was successfully treated, suggesting that SGB may offer a viable and minimally invasive treatment option for individuals experiencing chronic post-TBI symptoms, even in the absence of PTSD.

Introduction: Contrast-induced encephalopathy (CIE) is a rare complication that may occur following contrast administration during endovascular interventions. The phenomenon is well-described following coronary angiography but reports following endovascular neurointerventional procedures are sparse. This study aims to describe the clinical presentation, treatment and outcome of CIE in a tertiary metropolitan hospital in South Australia. Methods: This study describes a case series of 3 patients diagnosed with CIE following cerebral angiography within a 1-year period in a tertiary hospital. Results: All patients developed slowly progressive (and/or new) focal or global neurological deficits 2-7 h postprocedure and exhibited characteristic neuroimaging findings. Two of three patients made an excellent recovery with supportive care, improving after 48-72 h, although one died due to the severity of her associated stroke. Conclusion: CIE should be suspected in patients presenting with acute neurological deterioration following cerebral angiography. Supportive care may lead to full recovery. Multicentre prospective cohort studies are required to better define associations, diagnostic criteria and interventions to prevent and/or treat this condition.

The rehabilitation of patients with severe acquired brain injury (sABI) presents various challenges. There is still a lack of knowledge regarding the efficacy and timing of high-technology (HT) rehabilitation in this clinical population. This paper describes the rehabilitation of a 56-year-old Caucasian woman who developed sABI due to the spontaneous rupture of multiple left middle cerebral artery aneurysms. The focus is on the interconnection between cognitive resources and motor-cognitive abilities to implement HT rehabilitation as early as possible, aiming to maximize the restoration of both motor and cognitive deficits. Following the acute clinical phase, the patient underwent an intensive multidisciplinary rehabilitation, which is described in this paper. The main target was the superior limb training with HT using an upper limb exoskeleton and augmented feedback exercises. The rehabilitative exercises have been selected and timed according to the neuropsychological assessment. The patient showed progressive cognitive and upper limb motor recovery along the tailored rehabilitative path. This case study provides useful insights into the value of a customized motor-cognitive HT rehabilitative approach, allowing for the best possible functional outcome in a case of sABI.

We present a rare case of a collision tumor involving a pituitary macroadenoma and adamantinomatous craniopharyngioma in a 49-year-old woman. The patient presented with a 2-year history of amenorrhea and elevated prolactin. Brain MRI revealed two sellar masses. Initially managed with observation due to the absence of neurological deficits, surgical resection was later performed after clinical and radiographic progression. Pathology confirmed both tumor types: pituitary macroadenoma and adamantinomatous craniopharyngioma. Postoperative MRI showed residual disease at the superior margin. The patient subsequently received fractionated stereotactic radiation for residual disease and tolerated well.