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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 -
Cureus May 2024Pseudobulbar affect (PBA) is a neurological condition characterized by recurrent, inappropriate, and involuntary outbursts of emotion, primarily crying and laughter,...
Pseudobulbar affect (PBA) is a neurological condition characterized by recurrent, inappropriate, and involuntary outbursts of emotion, primarily crying and laughter, which are dissociated from the individual's emotional experience. The precise underlying cause of PBA remains unknown; however, existing evidence suggests the involvement of dopaminergic, serotonergic, and glutamatergic neurotransmission within the corticopontine-cerebellar pathways responsible for regulating the motor expression of emotions. Additionally, PBA has been observed to co-occur with other neurocognitive and psychiatric disorders. Therefore, it is crucial to consider the possibility of a PBA diagnosis in patients with underlying neurological damage and disorders.
PubMed: 38764710
DOI: 10.7759/cureus.60472 -
Experimental and Therapeutic Medicine Jul 2022Rare neurodegenerative disorders may be considered in the differential diagnosis of Parkinsonism in patients with schizophrenia who show worsening signs of Parkinsonism...
Rare neurodegenerative disorders may be considered in the differential diagnosis of Parkinsonism in patients with schizophrenia who show worsening signs of Parkinsonism under treatment with antipsychotics. To the best of our knowledge, the present study is the first report describing probable progressive supranuclear palsy (PSP) in a patient with chronic schizophrenia. A 64-year-old man presented with hallucinations, delusions and asociality. He had received treatment with both typical and atypical antipsychotics for ~13 years. He began experiencing short-term memory impairment and bradykinesia two years before presentation, and then showed increased dysphagia, upper-limb muscle rigidity, extrapyramidal symptoms, vision loss and photophobia. Psychological manifestations included chronic depression, irritability and, occasionally, euphoria. His gait worsened, leading to repeated falls. Antipsychotics were discontinued, and the patient was almost completely dependent on a wheelchair in daily life. In a neurology consultation, he was diagnosed with probable progressive supranuclear palsy-Richardson's syndrome presenting as vertical supranuclear gaze palsy and prominent postural instability with falls. Brain magnetic resonance imaging (MRI) revealed atrophy of the mesencephalic tegmentum, and I-ioflupane single-photon emission computed tomography (SPECT) revealed reduced bilateral striatal reuptake. Overall, PSP should be considered in patients with schizophrenia with worsening Parkinsonism, especially when it is accompanied by supranuclear ophthalmoplegia, pseudobulbar palsy, dysarthria and dystonic stiffness of the neck and upper body. In the present case, the combination of brain MRI and I-ioflupane SPECT helped to discriminate PSP from other Parkinsonian syndromes, including drug-induced Parkinsonism, in the differential diagnosis.
PubMed: 35761809
DOI: 10.3892/etm.2022.11411 -
African Health Sciences Mar 2021Pseudobulbar palsy (PBP) is characterized by supranuclear lesions in the corticobulbar pathway. Neoplasia, inflammatory, demyelinating, and stroke are possible... (Review)
Review
INTRODUCTION
Pseudobulbar palsy (PBP) is characterized by supranuclear lesions in the corticobulbar pathway. Neoplasia, inflammatory, demyelinating, and stroke are possible etiologies of this disorder.
CASE REPORT
We report an elderly female who presented with dysarthria. She was dysarthric with a hypernasal voice, no apraxia or aphasia was observed. Tongue movements were slow with limited amplitude. Her soft palate dropped bilaterally; gag reflex was present. Also, she reported swallowing difficulty and choking with her saliva. Bilateral vertical and horizontal gaze were intact to either voluntary or oculocephalic movements. A cranial CT scan was suggestive of artery of Percheron (AOP) infarction. Brain magnetic resonance imaging showed hypersignal on diffusion-weighted and T2-weighted images and hyposignal on apparent diffusion coefficient in both thalami. CT angiography scan revealed an AOP originating from the left posterior cerebral artery. The swallowing study with a videofluoroscopic demonstrated oral and pharyngeal phases with severe dysfunction.
CONCLUSION
To the authors' knowledge, there are two cases of individuals with artery of Percheron infarction who developed PBP associated with other clinical syndromes. Still, isolated PBP following infarction of Percheron's artery was not reported. We hypothesized that the PBP may have occurred because of the existence of vascular territory variations in the perforating arteries that arise from the AOP.
Topics: Aged; Arteries; Brain; Cerebral Infarction; Computed Tomography Angiography; Diffusion Magnetic Resonance Imaging; Dysarthria; Female; Humans; Infarction; Magnetic Resonance Imaging; Neuroimaging; Pseudobulbar Palsy; Thalamus; Tomography, X-Ray Computed
PubMed: 34394294
DOI: 10.4314/ahs.v21i1.22 -
Evidence-based Complementary and... 2023The objective is to evaluate the clinical efficacy of cross electro-nape-acupuncture (CENA) in the treatment of pseudobulbar palsy in patients with tracheotomy...
A Multicentre Randomized Controlled Clinical Study of Cross Electro-Nape-Acupuncture (CENA) for the Treatment of Pseudobulbar Palsy in Patients with Tracheotomy Intubation for Severe Cerebral Haemorrhage.
OBJECTIVE
The objective is to evaluate the clinical efficacy of cross electro-nape-acupuncture (CENA) in the treatment of pseudobulbar palsy in patients with tracheotomy intubation for severe cerebral haemorrhage and to provide an innovative acupuncture method for the treatment of such patients.
METHODS
A total of 126 patients from six trial centres who met the inclusion criteria were randomly divided into three groups according to the random number table method in the ratio of 1 : 1 : 1, with 42 patients in each group, and the three groups were divided into CENA group, electro-acupuncture group, and acupuncture group. Each group's acupuncture treatment lasted for 30 minutes, and the needles were removed at the end of the treatment. Acupuncture was performed once a week on Sunday only and twice a day from Monday to Saturday, a total of 4 weeks of treatment. The SWT, FDA, ChSWAL-QOL, and TCRGS scores of the three groups of patients before and after treatment were compared to evaluate the effect of CENA on remodelling the function of swallowing reflex and cough reflex and promoting the recovery of dysarthria and swallowing quality of life in pseudobulbar palsy in patients with tracheotomy intubation for severe cerebral haemorrhage.
RESULTS
After treatment, the WST and TCRGS grade scores decreased and the FDA and ChSWAL-QOL scores increased significantly in all three groups compared with the pretreatment scores and were statistically significant. There was a significant difference between the three groups for these four indicators after treatment; the comparison between groups showed significant differences in the CENA group compared to the electro-acupuncture and acupuncture groups. The efficiency of the CENA group was significantly better than that of the electro-acupuncture and acupuncture groups.
CONCLUSION
Compared with the acupuncture and electro-acupuncture groups, the CENA could better promote the remodelling of swallowing function and cough reflex function, promote the recovery of dysarthria, and better improve the quality of life of patients with pseudobulbar palsy from tracheotomy intubation in severe cerebral haemorrhage.
PubMed: 37152374
DOI: 10.1155/2023/9304934 -
The Tohoku Journal of Experimental... Mar 2023Pseudobulbar palsy and bulbar palsy cause dysphagia in patients with amyotrophic lateral sclerosis (ALS). Dysphagia in patients with ALS not only increases the risk of...
Pseudobulbar palsy and bulbar palsy cause dysphagia in patients with amyotrophic lateral sclerosis (ALS). Dysphagia in patients with ALS not only increases the risk of aspiration and pneumonia but also leads to malnutrition and weight loss, which are poor prognostic factors. Gastrostomy is the preferred route of feeding and nutritional support in patients with dysphagia. However, there are no established standards to determine the ideal timing of gastrostomy for patients with ALS. Therefore, we used the videofluoroscopic dysphagia scale (VDS), which objectively quantifies swallowing function, in videofluoroscopic swallowing study (VFSS) to investigate whether this scale at diagnosis can be a useful predictor for the timing of gastrostomy. We retrospectively evaluated 22 patients with ALS who were diagnosed at our hospital. We assessed the VDS scores in all patients within 3 months of diagnosis. A decline in the ALS functional rating scale revised (ALSFRS-R) scores was used as an indicator of disease progression. As a result, we found that the VDS score of the pharyngeal phase and the total VDS score were significantly correlated with the ΔALSFRS-R scores. These scores were also associated with the existing indicators for the timing of gastrostomy, i.e., decreased body weight and percent-predicted forced vital capacity. We demonstrated the noninferiority of the VDS scores relative to the existing indicators. In addition, the VDS score of the pharyngeal phase was significantly correlated with the time from diagnosis to gastrostomy. The VDS score could estimate the timing of gastrostomy in patients with ALS with dysphagia at diagnosis.
Topics: Humans; Deglutition Disorders; Amyotrophic Lateral Sclerosis; Gastrostomy; Retrospective Studies; Deglutition
PubMed: 36696983
DOI: 10.1620/tjem.2023.J005 -
Emotional Incontinence: A Case Report of Pseudobulbar Affect in the Setting of Alcohol Use Disorder.Cureus May 2023Pseudobulbar affect (PBA) manifests as a disconnect between emotional feelings and emotional expressions. The impact of pseudobulbar affect on social, occupational, and...
Pseudobulbar affect (PBA) manifests as a disconnect between emotional feelings and emotional expressions. The impact of pseudobulbar affect on social, occupational, and interpersonal functioning is substantial. It results in poor quality of social interactions and poor overall quality of life. Instances of pseudobulbar affect with no underlying neuropsychiatric disorders are rarely reported in the literature. Although alcohol use has been associated with traumatic brain injuries (TBI), alcohol as a direct cause of pseudobulbar palsy has rarely been reported. Our case presents a unique situation with no known underlying primary neurologic disorder but evidence from clinical history, physical examination, and laboratory tests indicative of severe alcohol use disorder. This case represents the rare instances where the disease etiology is unusual and reminds the health care provider to consider the role of alcohol in the pathophysiology of pseudobulbar affect. More research is needed to understand the role of alcohol in the etiology of pseudobulbar affect in the absence of any known underlying neuropsychiatric disorder.
PubMed: 37313061
DOI: 10.7759/cureus.38976 -
Case Reports in Critical Care 2024Traumatic brain injury (TBI) can have profound acute and chronic effects, leading to permanent disabilities and diminished quality of life. Pseudobulbar palsy and its...
Traumatic brain injury (TBI) can have profound acute and chronic effects, leading to permanent disabilities and diminished quality of life. Pseudobulbar palsy and its infrequent subtype, Foix-Chavany-Marie Syndrome (FCMS), represent rare complications of TBI, manifesting as deficits in craniofacial motor function and automatic-voluntary dissociation. We present a case of a 58-year-old male who developed FCMS following severe TBI from a cycling accident. Initial imaging revealed extensive brain injury with subsequent development of FCMS characterised by bilateral cranial nerve dysfunction, notably facio-pharyngo-glosso-masticatory diplegia with preserved automatic motor function. This case contributes to the limited literature on traumatic FCMS, highlighting its distinct clinical features and potential for favourable outcomes compared to nontraumatic cases. Early recognition and comprehensive management, including supportive therapy and addressing underlying conditions, are paramount for optimising patient outcomes.
PubMed: 38766550
DOI: 10.1155/2024/6652867 -
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 -
Cureus Sep 2022Rapid correction of hyponatremia is the most frequent predisposing factor for the development of central pontine myelinolysis (CPM). Alcoholism, cirrhosis, malnutrition,...
Rapid correction of hyponatremia is the most frequent predisposing factor for the development of central pontine myelinolysis (CPM). Alcoholism, cirrhosis, malnutrition, and severe burns are associated conditions that often present in combination with a rapid rise in serum sodium concentration. However, its association with hyperglycemia has not been as well established. There have been recent reports of acute to subacute presentation of CPM with hyperglycemia. We report an unusual case of a 48-year-old Caucasian male who presented with pseudobulbar palsy, ataxia, and quadriplegia with worsening pontine hyperintensities and was diagnosed with CPM in the setting of persistent hyperglycemia with normal serum sodium.
PubMed: 36312619
DOI: 10.7759/cureus.29470