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Prion Dec 2021Swallowing function in long-term survivors of Creutzfeldt-Jakob disease (CJD) has not been elucidated. Herein, we report a patient with MM2-cortical-type sporadic CJD...
Swallowing function in long-term survivors of Creutzfeldt-Jakob disease (CJD) has not been elucidated. Herein, we report a patient with MM2-cortical-type sporadic CJD (MM2C-type sCJD) with long-term preservation of pharyngeal swallowing function using videofluoroscopic (VF) examination of swallowing. A 55-year-old woman was admitted to hospital because of dyscalculia and memory disturbance 3 years after the onset of these symptoms. Neurological examination revealed dementia, extrapyramidal signs, and delusion. Diffusion-weighted MRI revealed bilateral hyperintensity in the basal ganglia and frontal, temporal, and parietal cortices. No mutation with the methionine homozygote at codon 129 was found on PRNP gene analysis. VF was performed 68 months after the onset. Although bolus transport from the oral cavity to the pharynx worsened, the pharyngeal swallowing function was preserved even 68 months after onset. Serial MRI examinations revealed no apparent atrophy of the brainstem. Single photon emission computed tomography revealed that the regional cerebral blood flow in the brainstem was preserved. These findings suggest that pseudobulbar palsy is the pathophysiology underlying dysphagia in long-term survivors of MM2C-type sCJD, probably owing to preserved brainstem function even in a state of akinetic mutism.
Topics: Creutzfeldt-Jakob Syndrome; Deglutition; Diffusion Magnetic Resonance Imaging; Female; Humans; Middle Aged; Pharynx; Tomography, Emission-Computed, Single-Photon
PubMed: 34078217
DOI: 10.1080/19336896.2021.1930851 -
European Journal of Case Reports in... 2021Foix-Chavany-Marie syndrome (FCMS) is a type of pseudobulbar palsy that affects facio-pharyngo-glosso-masticatory muscles.
INTRODUCTION
Foix-Chavany-Marie syndrome (FCMS) is a type of pseudobulbar palsy that affects facio-pharyngo-glosso-masticatory muscles.
MATERIALS AND METHODS
A 62-year-old man was admitted to the emergency department after 9 hours of acute dysarthria and dysphagia. MRI showed restricted diffusion in the right operculum on diffusion-weighted imaging (DWI). No thrombolytic therapy was given. The patient had a history of mechanical aortic valve replacement under anticoagulation with a vitamin K antagonist. Work-up demonstrated suboptimal levels of INR. Due to severe dysphagia during hospitalization, a percutaneous endoscopic gastrostomy (PEG) was performed.
RESULTS
The patient was discharged 5 days later, with a modified Rankin scale (mRs) score of 3, and secondary stroke prevention. He had achieved an excellent functional outcome (mRs 1) at 6-month follow-up.
CONCLUSION
Our patient had a satisfactory recovery due to prompt diagnosis, secondary stroke prevention, and compliance with treatment.
LEARNING POINTS
In the presence of acute dysarthria and dysphagia, Foix-Chavany-Marie syndrome (FCMS) should be considered.FCMS may occur in the presence of unilateral opercular stroke.Swallowing and speech therapy play an essential role in rehabilitation after the acute setting.
PubMed: 33987126
DOI: 10.12890/2021_002462 -
Proceedings (Baylor University. Medical... Feb 2021Foix-Chavany-Marie syndrome (FCMS) is a cortical-subcortical pseudobulbar palsy characterized by automatic voluntary dissociation of...
Foix-Chavany-Marie syndrome (FCMS) is a cortical-subcortical pseudobulbar palsy characterized by automatic voluntary dissociation of facio-masticatory-pharyngo-glosso-laryngeal movements. FCMS is typically caused by vascular insults on the bilateral anterior opercular or adjacent subcortical areas. Acute onset of FCMS secondary to a unilateral lesion is extremely rare. Herein we present a case of FCMS caused by acute unilateral anterior opercular infarction with preexisting bilateral leukoaraiosis. Our case shows that an acute unilateral anterior opercular lesion can decompensate preexisting corticobulbar-subcortical lesions and cause the typical features of FCMS.
PubMed: 33953472
DOI: 10.1080/08998280.2021.1878976 -
BMJ Case Reports Jan 2021A 5-year-old male child of consanguineous parentage, without any adverse perinatal history, presented with progressive cognitive regression predominantly in the language...
A 5-year-old male child of consanguineous parentage, without any adverse perinatal history, presented with progressive cognitive regression predominantly in the language and attention domains, for 2 years. He had simultaneous pyramidal and extrapyramidal involvement, frequent generalised tonic-clonic seizures and recurrent respiratory tract infections. Examination was significant for vertical supranuclear gaze palsy, coarse facial features and splenomegaly. Given the clinical features, in the background of consanguinity and mother's history of spontaneous pregnancy losses, inborn errors of metabolism were suspected. Following relevant investigations including tailored genetic study, Niemann-Pick disease type C (NPC) was diagnosed. Interestingly, MRI brain showed bilateral T2/fluid-attenuated inversion recovery claustrum hyperintensities, which are more commonly associated with autoimmune encephalitis and febrile infection-related epilepsy syndrome and not reported previously in NPC. Additionally, language regression as a presenting manifestation in NPC as opposed to classical dysarthria makes this case truly unique.
Topics: Attention; Child, Preschool; Claustrum; Cognitive Dysfunction; Consanguinity; Dystonia; Electroencephalography; Humans; Language; Magnetic Resonance Imaging; Male; Muscle Spasticity; Niemann-Pick Disease, Type C; Pseudobulbar Palsy; Respiratory Tract Infections; Seizures; Splenomegaly
PubMed: 33495167
DOI: 10.1136/bcr-2020-239630 -
BMJ Case Reports Dec 2020
Topics: Child, Preschool; Humans; Infratentorial Neoplasms; Male; Mutism; Pseudobulbar Palsy
PubMed: 33370958
DOI: 10.1136/bcr-2020-239969 -
Brain & NeuroRehabilitation Jul 2021Bilateral cerebral peduncular infarction (BCPI) is a very rare disorder among stroke patients. The main clinical manifestations in the previously reported BCPI case...
Bilateral cerebral peduncular infarction (BCPI) is a very rare disorder among stroke patients. The main clinical manifestations in the previously reported BCPI case reports was associated with locked-in syndrome or persistent vegetative state. Here, we present a 51-year-old woman who had pseudobulbar palsy and quadriplegia. Magnetic resonance imaging showed an acute infarction in the middle areas of the cerebral peduncle with a unique "Mickey Mouse ears" sign. Diffusion tensor imaging and tractography showed relatively preserved corticospinal tracts, but the corticobulbar tracts were not detected. Magnetic resonance angiography showed posterior cerebral artery and vertebrobasilar artery occlusion. Cerebral perfusion insufficiency due to stenosis or occlusion of the vertebrobasilar artery and its branches may lead to BCPI. The prognosis and clinical manifestations of BCPI are related to the extent of the infarction in the involved cerebral peduncle and whether other territories are involved. Isolated BCPI may present a severe pseudobulbar palsy with relatively preserved limb function depending on the involvement pattern.
PubMed: 36743434
DOI: 10.12786/bn.2021.14.e16 -
BMJ Case Reports Nov 2020Carotid artery dissection is one of the most common causes of ischaemic stroke in young and middle-aged population. We report a case of bilateral carotid artery...
Carotid artery dissection is one of the most common causes of ischaemic stroke in young and middle-aged population. We report a case of bilateral carotid artery dissection presenting with opercular syndrome or Foix-Chavany-Marie syndrome. This 46-year-old obese and hypertensive man with a history of fall from bike 1 week prior, presented with sudden onset of anarthria, dysphagia and deviation of angle of mouth. His speech and dysphagia gradually improved over 10 days to normal, but he developed pseudobulbar affect and difficulty in calculations 4 weeks later. MRI showed acute infarcts in bilateral operculum. CT angiography showed dissection in bilateral cervical ICAs. He was managed conservatively with oral anticoagulation, given for 6 months. Probability of dissection must be considered in patients with a history of trauma or falls developing focal neurological deficits. To our knowledge, this is the first case report of bilateral ICA dissection presenting with Foix-Chavany-Marie syndrome.
Topics: Aortic Dissection; Brain; Carotid Arteries; Carotid Artery Diseases; Computed Tomography Angiography; Deglutition Disorders; Dysarthria; Facial Paralysis; Humans; Ischemic Stroke; Magnetic Resonance Imaging; Male; Middle Aged; Obesity
PubMed: 33257395
DOI: 10.1136/bcr-2020-239080 -
Tremor and Other Hyperkinetic Movements... Jun 2020Delayed parkinsonism and dystonia are recognized phenomena in osmotic demyelinating syndrome (ODS). Dopamine receptor agonists and levodopa have been reported to benefit...
BACKGROUND
Delayed parkinsonism and dystonia are recognized phenomena in osmotic demyelinating syndrome (ODS). Dopamine receptor agonists and levodopa have been reported to benefit select patients.
CASE REPORT
We report a patient with ODS with severe pseudobulbar deficits, parkinsonism and dystonia, poorly responsive to levodopa, who experienced a remarkable improvement with pramipexole.
DISCUSSION
A marked response to pramipexole with lack of response to levodopa suggests a pre-synaptic source for his deficits coupled with injuries to non-nigral compensatory structures.
HIGHLIGHTS
This case highlights a dramatic response of osmotic demyelination-induced parkinsonism/dystonia to pramipexole. A lack of response to levodopa suggests deficits in the pre-synaptic nigral as well as non-nigral compensatory structures.
Topics: Adult; Antiparkinson Agents; Deamino Arginine Vasopressin; Demyelinating Diseases; Dystonia; Epistaxis; Hemostatics; Humans; Hyponatremia; Levodopa; Locked-In Syndrome; Male; Myelinolysis, Central Pontine; Osmotic Pressure; Parkinsonian Disorders; Postoperative Hemorrhage; Pramipexole; Pseudobulbar Palsy; Rhinoplasty; Tetrahydronaphthalenes; Thiophenes; Treatment Failure; Treatment Outcome; von Willebrand Disease, Type 1
PubMed: 32775023
DOI: 10.5334/tohm.66 -
Prion Dec 2020Swallowing function in long-term survivors with Creutzfeldt-Jakob disease (CJD) remains unknown. Herein, we demonstrated serial evaluation of swallowing function in a...
Swallowing function in long-term survivors with Creutzfeldt-Jakob disease (CJD) remains unknown. Herein, we demonstrated serial evaluation of swallowing function in a case with V180I genetic CJD (gCJD) using videofluoroscopic examination of swallowing (VF). A 69-year-old woman was admitted to our hospital because of bradykinesia and memory disturbances 4 months after the onset of symptoms. Neurological examination revealed dementia, bradykinesia and frontal signs. Diffusion-weighted MRI revealed bilateral cortical hyperintensity in the frontal, temporal, and parietal cortices, and gene analysis indicated a V180I mutation. Her dysphagia gradually progressed, and she received percutaneous gastrostomy 42 months after the onset. VF was performed at 27, 31, 39, and 79 months after the onset. Although bolus transport from oral cavity to pharynx gradually worsened and initiation of the pharyngeal swallow was gradually delayed, the pharyngeal swallowing function was preserved even at 72 months after onset. MRI revealed no apparent atrophy of brainstem, and single photon emission computed tomography showed preserved regional cerebral blood flow in the brainstem. These findings suggest that the pathophysiology of dysphagia in a long-term survivor of V180I gCJD is that of pseudobulbar palsy, likely owing to preserved brainstem function even in the akinetic mutism state.
Topics: Aged; Creutzfeldt-Jakob Syndrome; Deglutition; Female; Fluoroscopy; Humans; Mutation; Prion Proteins; Survivors; Video Recording
PubMed: 32627665
DOI: 10.1080/19336896.2020.1787090