Rationale: Stiff-person syndrome (SPS) is a rare neurological immune disorder characterized by progressive axial and proximal limb muscle rigidity, stiffness, and painful muscle spasms. Amphiphysin antibodies are positive in approximately 5% of SPS patients. To date, there have been no relevant reports on involuntary movement in cases of SPS with amphiphysin antibodies. Patient concerns: We describe the case of a 69-year-old man with a 2-year history of progressive stiffness in the neck, bilateral shoulders, and chest muscles, and a more-than-a-year history of dyspnea accompanied by mandibular involuntary movement. The patient was a vegetarian and had good health in the past. The family's medical history was unremarkable. Diagnoses: He was diagnosed with SPS based on the progressive muscle stiffness, the amphiphysin antibody seropositivity, the continuous motor activity on electromyography, and the effective treatment with benzodiazepines. Interventions: The patient was orally administered clonazepam and baclofen, and corticosteroid IV followed by prednisone orally. Outcomes: In the hospital, after treatment with methylprednisolone, clonazepam, and baclofen, the patient's rigidity, stiffness, and dyspnea significantly improved. The involuntary movement of the mandible persisted throughout the treatment process. Currently, under oral treatment with baclofen and clonazepam, the patient's symptoms of muscle stiffness and dyspnea exist, and follow-up is continued. Lessons: We report a rare and novel case of involuntary movement in SPS with amphiphysin antibodies. The present report explores the relationship between SPS and involuntary movement and expands the spectrum of clinical manifestations of SPS.
BackgroundGlioblastoma multiforme (GBM) is a highly malignant glioma that rarely presents as an infratentorial tumor. Multicentric (MC) gliomas involve lesions widely separated in space or time, and MC gliomas involving supra- and infratentorial brain regions are rare. In most cases, the infratentorial lesion is seen after surgical manipulation or radiation therapy; it is typically located in the cerebellum or the cervical region, manifesting as metastasis originating from the brain. Besides, venous thromboembolism in brain tumors is usually seen after craniotomy.Case PresentationWe present an uncommon adult case of symptomatic H3K27M-mutant MC glioblastoma simultaneously present in the brain, fourth ventricle, and cervical and lumbar spinal cord regions accompanied by acute pulmonary artery embolism in an adult woman who had not undergone previous therapeutic interventions. We also review the literature on this interesting presentation.ConclusionOur report highlights that clinicians should be alert to the potential alarming presentation of GBM. The incidence of spinal metastasis of cerebral GBM is increasing. Patients with a prior diagnosis of GBM with or without any new onset in the spinal cord should undergo an early MRI of the spinal cord to confirm the diagnosis at an early stage. While management of GBM remains controversial, more research is needed to explore molecular features of GBM further and develop novel targeted therapies for these patients.
Background Antibodies against the 65-kDa isoform of glutamic acid decarboxylase (GAD65) are biomarkers of autoimmune disorders and are more common in non-neurological autoimmune diseases than in neurological disorders. As for the central nervous system (CNS), it is well known that GAD65 is primarily associated with stiff-person syndrome, cerebellar ataxia, epilepsy, and paraneoplastic neurological syndrome. However, GAD65 antibodies have not been reported in patients with brain tumors. Case presentation This study presents the case of a 62-year-old man who manifested rapidly progressive dizziness with gradually worsening physical disturbance and unstable gait in the 2 months prior to consultation. Antibodies against GAD65 were detected in his serum. Brain magnetic resonance imaging (MRI) showed abnormal signals in the corpus callosum, the semi-oval center in both hemispheres, and the area below the frontal cortex, along with enhanced intracranial lesions in the same regions. Positron emission tomography–computed tomography (PET–CT) showed high metabolism in the corpus callosum, which protruded into both ventricles. Due to signs of malignancy, the patient was diagnosed with a malignant glioma. Conclusions This case raises awareness on the fact that anti-GAD65 antibodies may be associated with CNS neoplastic lesions. Early recognition of anti-GAD antibodies could be of great importance for the early diagnosis and targeted treatment of neoplastic lesions, and could lead to better prognosis.
Migraine is a highly prevalent neurological disorder characterized by recurrent, unilateral, or bilateral throbbing severe headaches. Currently, there are extremely rare cases of migraine-induced dystonia. A 52-year-old woman was admitted for intractable migraine for about 5 days and walking difficulties for 1 day. The symptom of an inability to walk appeared on the fourth day of the headache attack lasting for 1 day and resolved on its own as the headache subsided. The same symptoms appeared once 6 years ago. Neurological examination, brain Magnetic resonance imaging (MRI), laboratory tests of blood and cerebrospinal fluid (CSF) were normal. The contrast transcranial Doppler echocardiography (cTCD) revealed a latent and massive right-to-left shunt (RLS) after the release of the Valsalva maneuver. The patient was diagnosed with migraine-induced dystonia of the lower limbs. Oral ibuprofen and flunarizine and avoidance of increased chest pressure maneuvers were used for treatment and prevention. During the 6-month follow-up, the patient was free of headaches and walking difficulties. Our study reported a rare case of migraine-induced dystonia of the lower extremities.
Epilepsy is one of the most common neurological disorders and severely impacts the life quality of patients. Polyamines are ubiquitous, positively charged aliphatic amines that are present at a relatively high level and help regulate the maintenance of cell membrane excitability and neuronal physiological functions in the central nervous system. Studies have shown abnormalities in the synthesis and catabolism of polyamines in patients with epilepsy and in animal models of epilepsy. The polyamine system seems to involve in the pathophysiological processes of epilepsy via several mechanisms such as the regulation of ion permeability via interaction with ion channels, involvement in antioxidation as hydroperoxide scavengers, and the induction of cell damage via the production of toxic metabolites. In this review, we try to describe the possible associations between polyamines and epilepsy and speculate that the polyamine system is a potential target for the development of novel strategies for epilepsy treatment.
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