eNeurologicalSci最新文献

Background

Intractable hiccups, persisting beyond 48 h, pose a clinical challenge, particularly in demyelinating diseases like Neuromyelitis Optica (NMO) and Multiple Sclerosis (MS). Understanding the complex neural pathways of the hiccup reflex and the impact of high-dose steroid therapy is crucial for managing this rare but distressing symptom. The hiccup reflex involves afferents from the vagus, phrenic, and sympathetic nerves, with the reflex center in the anterior horns at the C3 to 5 level and the medulla oblongata. The potential interplay between demyelination and corticosteroid therapy in triggering persistent hiccups requires exploration.

Case report

This case report details a 21-year-old male with undiagnosed demyelinating disorder, presenting persistent hiccups following high-dose steroid therapy for an acute disease flare. The patient's history included vertigo and progressive neurological symptoms, leading to an MS diagnosis with significant brain and spinal lesions. Persistent hiccups, initiated by steroid administration, were recurrent but responsive to metoclopramide after other measures failed.

Discussion

The discussion centers on investigating the cause of hiccups in a patient with demyelination following steroid administration. Steroids' impact on neurological systems, including neurotransmitter function, and the potential disruption of neurological pathways due to demyelination may contribute to hiccups. Successful hiccup resolution with metoclopramide suggests a potential pharmacological approach for corticosteroid-induced hiccups in demyelinating diseases. This case emphasizes the need for further research into the intricate relationship between demyelination, steroid therapy, and hiccups to enhance management strategies for this uncommon yet impactful symptom.

Background and aims

Waldenstroms macroglobulinemia (WM) is a low-grade B cell neoplasm. Bing Neel syndrome is a rare manifestation of WM characterized by infiltrative involvement of the central nervous system.

Case report

64-year-old man, presented with 4 years history of slowly progressive diplopia and ptosis of eyes. Examination showed left oculomotor (internal and external ophthalmoplegia), with trochlear, abducens, and right partial oculomotor and abducens nerve involvement. Evaluation showed anemia of hemoglobin 10.7 g/dL, raised erythrocyte sedimentation rate of 120 mm/h and plasma albumin:globulin reversal. Serum protein electrophoresis showed a paraprotein peak in the early gamma region with elevated IgM level (3810 mg/dL) and elevated free kappa light chain level (70.1 mg/L). Bone marrow aspiration from posterior iliac crest revealed mature small lymphocytes with positive immunohistochemical markers of CD5, CD10 negativity and MYD88 mutation positivity suggestive of WM. Patient was treated with bendamustine and rituximab regimen, with no neurological improvement at the end of one year.

Conclusion

This case expands spectrum of paraproteinemic neuropathy to include cranial nerve palsy. Thus, plasma cell dyscrasias have to be considered in patients with isolated ophthalmoparesis especially in elderly patients, even with other comorbidities such as diabetes mellitus.

Neurocutaneous melanocytosis (NCM) is a rare, sporadic neuroectodermal dysplasia characterized by the presence of large or multiple congenital cutaneous nevi and melanocytic deposits in the central nervous system. Hitherto, unreported we describe a case of NCM with optic neuropathy and spinal cord melanoma from India. A 20 year-old-lady had headache and vomiting for 3 months followed by consecutive profound painless visual impairment. Visual acuity was counting of fingers at 1 m distance in both eyes with normal fundus. There were no symptoms of spinal cord involvement. Clinical examination showed multiple small to large melanocytic nevi over the face and body. Muscle power was normal. Tendon reflexes were exaggerated. Visual evoked potential showed bilateral prolonged P100 latency (Right eye - 144 msec; Left eye - 151 msec). Brain MRI revealed leptomeningeal enhancement of brainstem, cerebellum, oculomotor and facial-abducent nerve complex without optic nerve involvement. MRI spine showed extensive dorsal thoracic cord epidural lesion extending along the entire thoracic cord segment with dorsal cord compression. Positron Emission Tomography (PET) imaging showed Fludeoxyglucose F18 (FDG) avidity along D1-D12 levels of spinal cord. Biopsy from the cord lesion was suggestive of meningeal melanoma. Here we document a rare case of late onset NCM with intracranial meningeal infiltration and asymptomatic large epidural lesion of spinal cord, expanding its phenotypic spectrum. Optic neuropathy in NCM has not been reported earlier. Periodic screening of brain and spine is recommended for early prognostication and lesion identification in NCM.

Introduction

Constipation is one of the most common non-motor symptoms of Parkinson's disease (PD) and is associated with reduced quality of life in patients with PD. The aim of this study was to evaluate the effect of lactulose on defecation status in patients with PD.

Methods

In this open-label, single-center, exploratory pilot study, twenty-nine patients with PD received lactulose for three weeks for the treatment of constipation. The primary endpoint was the number of spontaneous bowel movements (SBMs). The secondary endpoints were stool consistency (Bristol Stool Form Scale [BSFS]) and the number of rescue laxatives used.

Results

Twenty-five patients with PD completed the study. The number of SBMs recorded during the lactulose intervention period was significantly increased compared with that recorded during the pre-intervention period. During the intervention period, the BSFS scores of the patients increased significantly, whereas the number of rescue laxatives they used decreased significantly. No serious adverse events were observed during the study period. Lactulose was well-tolerated.

Conclusions

The results of this study suggest that lactulose may be effective in improving defecation status in patients with PD. Further randomized controlled trials are needed to confirm the effects of lactulose on constipation in patients with PD.

Background

Computed tomographic angiography (CTA) is rarely used to explore the effect of moyamoya disease (MMD) on the basilar artery (BA) and its adjacent arteries.

Methods

Participants were divided into a control group and an MMD group. The relevant parameters were measured. Statistical analyses included the t-test, chi-squared test, and linear regression analysis.

Results

In the control group of 100 healthy people, the average age was 54.51 ± 13.40 years, and the ratio of males to females was 0.89:1. In the MMD group of 100 patients, the average age was 53.95 ± 11.31 years, and the ratio of males to females was 1.13:1. In the MMD group, the CTA score of the anterior circulation of the bilateral hemispheres was 7.57 ± 2.36. According to the statistical analyses, (1) in the control group, the BA apex tended to lean to the right in healthy participants; (2) in the MMD group, the BA was closer to the midline, and the angle between the BA and anterior inferior cerebellar artery was reduced, indicating that the BA was relatively elevated; (3) in the MMD group, the diameters of the BA, PCA and vertebral artery were larger than those in the control group; and (4) MMD patients with posterior cerebral atery (PCA) involvement had higher CTA scores of the anterior circulation.

Conclusions

MMD can cause the BA to move toward the midline and upward and enlarge major vessels of the posterior circulation. The PCA tends to be involved in MMD patients with higher CTA scores in the anterior circulation.

A case-control study of sporadic amyotrophic lateral sclerosis (ALS) in a mountainous village in the French Alps discovered an association of cases with a history of eating wild fungi (false morels) collected locally and initially identified and erroneously reported as Gyromitra gigas. Specialist re-examination of dried specimens of the ALS-associated fungi demonstrated they were members of the G. esculenta group, namely G. venenata and G. esculenta, species that have been reported to contain substantially higher concentrations of gyromitrin than present in G. gigas. Gyromitrin is metabolized to monomethylhydrazine, which is responsible not only for the acute oral toxic and neurotoxic properties of false morels but also has genotoxic potential with proposed mechanistic relevance to the etiology of neurodegenerative disease. Most ALS patients had a slow- or intermediate-acetylator phenotype predicted by N-acetyltransferase-2 (NAT2) genotyping, which would increase the risk for neurotoxic and genotoxic effects of gyromitrin metabolites.

A 74-year-old man developed orthostatic syncope, a feeling of food stuck in his chest, and postprandial vomiting 3 years before presentation. Examination revealed severe orthostatic hypotension and cerebellar ataxia, and he was diagnosed with multiple system atrophy (MSA) with predominant cerebellar ataxia. Videofluoroscopic examination of swallowing showed lower oesophageal stricture and barium stagnation within the oesophagus. Oesophagogastroduodenoscopy revealed hypercontraction of the lower oesophagus, and high-resolution oesophageal manometry showed premature contractions of the lower oesophagus and decreased oesophageal peristalsis. The median integrated relaxation pressure in the lower oesophageal sphincter was normal, and achalasia was therefore excluded. Based on the Chicago classification version 4.0, his oesophageal dysmotility was classified as distal oesophageal spasm (DES). The stuck feeling in his chest and vomiting improved following endoscopic balloon dilation. This case suggests that DES can cause oesophageal food stagnation and postprandial vomiting in patients with MSA.

Background

Acute hemorrhagic leukoencephalitis (AHLE) is a very rare demyelinating disease with rapid fulminant inflammation of the white matter. Although the exact etiology is unknown, AHLE usually manifests post a viral or bacterial infection and less often seen post vaccination for measles or rabies. AHLE has a very poor prognosis and a high mortality rate. Owing to the rarity of this entity there is not clear consensus on the proper line of management. In this report, we present a case of AHLE as a para-infectious sequel to COVID-19 in a young patient.

Clinical presentation

We report a 30-year-old turkish patient with an initial presentation of upper respiratory tract infection due to COVID-19. Initially, she was admitted to the hospital with generalized tonic-clonic seizure (GTCS) and deterioration in her level of consciousness lapsing into a coma. An initial CT scan showed diffuse brain edema and an MRI head confirmed the suspicion of Acute hemorrhagic leukoencephalitis (AHLE). Despite prompt and diligent osmotic therapy and pulsed intravenous (IV) methylprednisolone, her condition rapidly depreciated and progressed into cerebral edema with gravid sequela of brainstem herniation.

Conclusions

AHLE is a very rare entity and perhaps its fulminant debilitating course and high mortality should warrant further studies on disease pathophysiology and its optimal treatment parameters. Life-saving decompressive hemicraniectomy should be considered in the multidisciplinary approach of the management with tailored osmotic and immunotherapy.

Background

Chronic foot pain, including conditions such as plantar fasciitis, presents a significant challenge to patients and healthcare providers. Traditional treatments often offer limited relief, prompting exploration of alternative therapies. Transcranial direct current stimulation (tDCS) has emerged as a noninvasive brain stimulation technique with potential for alleviating chronic pain syndromes.

Methods

A review was conducted following the JBI methodology and adhering to PRISMA guidelines. Searches were performed in databases including MEDLINE, Cochrane Central, Scopus, and PEDro, supplemented by grey literature sources and expert consultations. Studies were included if they investigated tDCS as an intervention for chronic foot pain, assessed its efficacy, safety, or mechanisms of action, and were published in English.

Results

A total of three papers were included in the review. The findings indicate that tDCS holds promise for managing chronic foot pain, including plantar fasciitis. Main results suggest significant reductions in pain intensity and improvements in related outcomes following tDCS treatment.

Conclusions

This review underscores the potential of tDCS as an alternative therapy for severe lower-extremity pain, highlighting the need for further research to optimize its parameters and long-term effects. tDCS emerges as a promising neuromodulation approach for chronic foot pain management, offering insights for enhancing patient outcomes and quality of life.

Background and objectives

The aim of this study is to provide a comprehensive characterization of a large Estonian family spanning five generations with seventeen individuals affected by spastic paraplegia associated with a novel variant in the receptor expression-enhancing protein-1 (REEP1) gene.

Methods

Comprehensive clinical evaluation, neuroimaging, and neurophysiological studies were performed on six patients who provided oral and written consent. Whole-exome sequencing was performed on the index case. Targeted carrier testing was done in all other available affected and at-risk relatives.

Results

Four individuals presented with pure spastic paraplegia, with onset from early childhood to adult age. None had bladder or bowel dysfunction. Two subjectively asymptomatic mutation carriers displayed pyramidal signs on examination. Imaging of the neuroaxis was normal in three patients, three had MRI findings interpreted as unrelated. Motor evoked potential (MEP) was abnormal in five; the patient with the longest disease duration had additional somatosensory evoked potential (SSEP) abnormalities. The novel splice-site variant, c.32 + 1G > C in the REEP1 gene, found in the index case, co-segregates with disease in the family. Expressivity in this family is variable.

Conclusion

Our findings are in keeping with previous descriptions of the SPG31 spectrum. The phenotype associated with splice variants is not necessarily more severe than other conventional REEP1 variants. As for other forms of familial spastic paraplegias, the factors modulating variable expressivity in SPG31 are still unknown.