Chorea as a Presentation of SARS-CoV-2 Encephalitis: A Clinical Case Report.
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ABSTRACT:
SUBMITTER: Hassan M
PROVIDER: S-EPMC8490192 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are frequent additional features. The disorder is caused by mutations of the NKX2-1 gene on chromosome 14. CASE PRESENTATION:A Norwegian four-generation family with eight affected was identified. All family members had an early onset movement disorder, starting before one year of age with motor delay and chorea. Learning difficulties were commonly reported from early school years. The family presented with choreic movements at rest, but other movements were seen; myoclonus, dystonia, ataxia, stuttering and tics-like movements. All patients reported unsteadiness and ataxic gait was observed in two patients. Videos are provided in the supplementary material. Most affected family members had asthma and a subclinical or clinical hypothyroidism. Sequencing revealed a mutation in the NKX2-1 gene in all eight affected family members. CONCLUSIONS:This is the first Norwegian family with benign hereditary chorea due to a mutation in the NKX2-1 gene, c.671 T?>?G (p.Leu224Arg). This family demonstrates well the wide phenotype, including dystonia, myoclonus and ataxia.
| S-EPMC4736661 | biostudies-literature
Project description:Covid-19-related encephalitis is a heterogeneous syndrome characterized by a combination of clinical, laboratory, and imaging features related to inflammation of the brain, where the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is presumably the causative agent. We reported a case of Covid-19-related encephalitis presenting with neuropsychiatric symptoms, including intense agitation. Reverse-transcriptase polymerase-chain-reaction in cerebrospinal fluid was positive for SARS-CoV-2. Our case expands the literature about neurologic manifestations of Covid-19 and emphasizes the possibility of prominent behavioral symptoms as the initial manifestation.
| S-EPMC8552702 | biostudies-literature
Project description:The 2019 new coronavirus (SARS-CoV-2) is a novel respiratory virus which has increasingly spread all over the world. Although the predominant clinical presentation is represented by respiratory symptoms, neurological manifestation of SARS-CoV-2 is being increasingly recognized. In the present report, we present a case of post SARS-CoV-2 autoimmune encephalitis associated with a new-onset refractory status epilepticus (NORSE).
| S-EPMC7608104 | biostudies-literature
Project description:Introductionand importance: Neurological ailments are reported during and after SARS-COV-2 infection.Case presentationWe report a 67-year-old Iranian man with COVID-19 infection and Acute Disseminated Encephalomyelitis (ADEM) whose neurological symptoms appeared before clinical and radiological pulmonary manifestations.Clinical discussionCOVID-19 can cause neurological complication without entering the CNS via para infectious inflammatory mechanisms.ConclusionsThis report shows that ADEM might be among primary presentations of COVID-19.
| S-EPMC8958253 | biostudies-literature
Project description:IntroductionEncephalitis is a common infection of the brain, associated with a high risk of mortality and morbidity despite intensive supportive therapy. This report describes a patient with acute clinical meningoencephalitis who responded dramatically when her body temperature was decreased to normothermia (36 to 37 degrees C) in combination with barbiturate therapy.Case presentationA 15-year-old, previously healthy girl presented with a 2-day history of headache and meningeal stiffness and pyrexia. Cranial magnetic resonance imaging showed high-intensity signals in the splenium of the corpus callosum on T2-weighted and diffusion-weighted images. On day 4 of admission, the level of consciousness decreased and ataxic respiration and apnea appeared. After that, fever (body temperature >40 degrees C) developed with remarkable tachycardia. The body temperature was decreased with the use of a forced-air-cooling blanket and head cooling. The core temperature, measured in the bladder, was maintained at between 36 and 37 degrees C for 5 days. During the period of normothermia, thiopental sodium was given continuously for 3 days. After normothermia, the level of consciousness increased without the development of fever, and ventilatory support was withdrawn.ConclusionOur experience suggests that normothermic treatment in combination with barbiturate therapy may be an effective option for the management of brain swelling associated with acute meningoencephalitis, particularly when accompanied by a persistent high fever.
| S-EPMC2500027 | biostudies-literature
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| S-EPMC7525191 | biostudies-literature
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| S-EPMC8339572 | biostudies-literature
Project description:Autoimmune limbic encephalitis is an antibody-mediated brain inflammatory process, which typically involves the medial temporal lobe. Diagnosis requires the presence of antineuronal antibodies, but sometimes patients present clinical features of limbic encephalitis despite negative serology. Thus, the diagnosis of antibody-negative limbic encephalitis is difficult to make, and it must often rely largely on exclusion of other causes. This current case report describes a 28-year-old male that presented 2 months after the acute event with radiological changes typical of limbic encephalitis, but with no identifiable antibody and neuropsychological impairment. Antibody responses to neurotropic viruses and antibody-mediated encephalitis were negative in serum and cerebrospinal fluid. Magnetic resonance imaging showed signs of hyperintensity in the hippocampus bilaterally, amygdala and left pulvinar. The neuropsychological evaluation showed a deficit in emotional face recognition and severe autobiographical amnesia. Bilateral damage to the medial temporal lobe and hippocampus, including the amygdala, is associated with alterations in autobiographical memories. The neuropsychological impairment documented in this current case expands the range of clinical features of antibody-negative encephalitis and provides evidence that the memory deficit in this disorder is more extensive than was previously recognized.
| S-EPMC8832620 | biostudies-literature
Project description:BackgroundHuntington's disease is an autosomal dominant inherited disorder characterized by personality changes (such as irritability and restlessness) and psychotic symptoms (such as hallucinations and delusions). When the personality changes become noticeable, involuntary movements (chorea) also develop. The disease is caused by the CAG repeat expansion in the coding region of the HTT gene, and the diagnosis is based on the presence of this expansion. However, there is currently no effective treatment for the progression of Huntington's disease and its involuntary motor symptoms. Herein, we present a case in which memantine was effective in treating the chorea movements of Huntington's disease.Case presentationA 75-year-old Japanese woman presented to the hospital with involuntary movements of Huntington's disease that began when she was 73 years old. In a cerebral blood flow test (N-isopropyl-p-iodoamphetamine-single-photon emission computed tomography), decreased blood flow was observed in the precuneus (anterior wedge) and posterior cingulate gyrus. Usually, such areas of decreased blood flow are observed in patients with Alzheimer's-type dementia. So, we administered memantine for Alzheimer's-type dementia, and this treatment suppressed the involuntary movements of Huntington's disease, and the symptoms progressed slowly for 7 years after the onset of senility. In contrast, her brother died of complications of pneumonia during the course of Huntington's disease.ConclusionsWe recorded changes in parameters such as the results of the N-isopropyl-p-iodoamphetamine-single-photon emission computed tomography and gait videos over 7 years. Treatment with memantine prevented the chorea movement and the progression of Huntington's disease. We believe this record will provide clinicians with valuable information in diagnosing and treating Huntington's disease.
| S-EPMC10578007 | biostudies-literature
Project description:BackgroundChorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of VPS13A has not been completely elucidated. This study reports two novel heterozygous VPS13A pathogenic variants in ChAc that expand the variant spectrum of VPS13A.Case presentationWe described a case of a 29-year-old man with typical clinical manifestations of ChAc, including chorea, orofacial lingual dyskinesia, vocal tics, elevated serum biochemical indicators, increased acanthocytes in peripheral blood, and caudate nucleus atrophy. Next-generation sequencing revealed two heterozygous variants of VPS13A: a nonsense variant (NM_033305.2: c.8215G > T, p. Glu2739Ter) and a deletion variant in the exons 25-31.ConclusionThe identified nonsense variant gives rise to premature translation termination, while the deletion variant is expected to cause a significant in-frame deletion of amino acid residues in the encoded protein. Both variants are considered to be pathogenic and result in loss-of-function proteins. These findings have implications for the genetic counseling of patients with VPS13A variants.
| S-EPMC10548615 | biostudies-literature