Topic
Recurrent encephalopathy
About: Recurrent encephalopathy is a research topic. Over the lifetime, 56 publications have been published within this topic receiving 544 citations.
Papers published on a yearly basis
Papers
TL;DR: Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), which is characterized by mildly impaired consciousness and transient splenials lesion.
Abstract: OBJECTIVE Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), which is characterized by mildly impaired consciousness and transient splenial lesion. Familial and/or recurrent cases with a clinical diagnosis of MERS suggest the presence of genetic factors. METHODS We examined a family in which the proband presented with a history of recurrent encephalopathy with extensive but reversible cerebral myelin vacuolization and neurological symptoms similar to those of MERS spanning 3 generations. Whole-exome sequencing was performed in family members. RESULTS Eight rare nonsynonymous single-nucleotide variants shared by all patients were identified. By filtering genes expressed in the corpus callosum, we identified a heterozygous c.1208A>G predicting p.Gln403Arg in the highly conserved DNA-binding domain in the myelin regulatory factor (MYRF) gene. We subsequently screened the coding regions of MYRF by Sanger sequencing in our cohort comprised of 33 sporadic cases with MERS and 3 cases in another family with extensive myelin vacuolization, and identified the same heterozygous c.1208A>G in all affected members in the second family. Luciferase assay revealed that transcriptional activity of the N-terminal region of MYRF was significantly diminished by introducing the c.1208A>G variant. INTERPRETATION MYRF is a transcriptional regulator that is necessary for oligodendrocyte differentiation and myelin maintenance. Functional defects of MYRF are likely to be causally associated with encephalopathy with extensive myelin vacuolization. We propose the term "MYRF-related mild encephalopathy with reversible myelin vacuolization." Our findings provide a new perspective on the pathogenesis of myelin vacuolization. Ann Neurol 2018;83:98-106.
44 citations
TL;DR: A 48-year-old patient with recurrent encephalopathy and seizures, and elevated antithyroid antibodies is described, who had one seizure and symptoms resolved after treatment with prednisone and azathioprine.
Abstract: Hashimoto's encephalopathy is a chronic relapsing and remitting encephalopathy associated with antithyroid antibodies. Seizures are a frequent manifestation, but are not well characterized in the literature with respect to their onset. We describe a 48-year-old patient with recurrent encephalopathy and seizures, and elevated antithyroid antibodies. One seizure was documented with video-EEG monitoring using scalp and sphenoidal electrodes. The ictal discharge originated in the left mesial-basal temporal region. MRI showed an increased T2 signal in the white matter of the centrum semiovale, but no temporal pathology. Symptoms resolved after treatment with prednisone and azathioprine. Hashimoto's encephalopathy should be considered in patients with unexplained encephalopathy and seizures, including those originating in the temporal lobe.
32 citations
TL;DR: The case of a patient with a normal functioning graft that developed recurrent encephalopathy after trans-plantation is reported, which was successfully treated by em-bolization of a large portosystemic shunt between thesuperior mesenteric vein and both gonadal veins, this causing an inversion of the superior mesEnteric vein.
30 citations
TL;DR: The patient improved dramatically on steroid therapy with resolution of her hemiparesis and bradyphrenia and returned to pre-morbid independence two years later, and remains well on low-dose corticosteroids and anticonvulsant therapy.
Abstract: of haemorrhagic metastasis from a metastatic melanoma. Aspirin was discontinued, phenytoin was increased and a brief course of dexamethasone given for possible cerebral oedema associated with haemorrhagic metastases. The patient’s hemiparesis and aphasia showed near-complete resolution within a week. Subsequent biopsy of the skin lesion was benign. Over 2 months, she developed a progressive encephalopathy with inattention, bradyphrenia, drowsiness and severe right hemiparesis. The blood pressure was normal throughout followup, and no further seizures occurred. The ESR was elevated at 63 mm/h. Repeat CSF showed mildly increased protein only (474 mg/l). Repeat MRI was unchanged. Despite normal cerebral angiography, methylprednisolone was started for suspected vasculitis and brain biopsy performed following initiation of steroid therapy. This demonstrated -A4 amyloid angiopathy (Dako antibody) involving cortical, subcortical and meningeal vessels with perivascular haemorrhage. Intramural lymphocytes and perivascular macrophages were present. The patient improved dramatically on steroid therapy with resolution of her hemiparesis and bradyphrenia. She returned to pre-morbid independence (Barthel score 96/100). Two years later, she remains well on low-dose corticosteroids and anticonvulsant therapy.
24 citations
Journal Article•
TL;DR: A 30-year-old man with thyrotoxicosis and strongly positive thyroid antibodies presented with generalised seizures preceded by an encephalopathic illness of a few days duration, which supports the view that the hyperthyroid state caused this serious neurological condition.
Abstract: Seizures or encephalopathy associated with thyrotoxicosis are very rare. A 30-year-old man with thyrotoxicosis and strongly positive thyroid antibodies presented with generalised seizures preceded by an encephalopathic illness of a few days duration. CSF protein was raised and EEG showed bilateral slowing of activity. Antithyroid drug treatment rendered him biochemically euthyroid, his cognitive state returned to normal and his seizures stopped. Subsequently he had a recurrence of both encephalopathy and seizures on two occasions, coinciding with relapses of the thyrotoxicosis. This supports the view that the hyperthyroid state caused this serious neurological condition. Treatment with 131| caused hypothyroidism and he has remained seizure free and well for six years on thyroxine replacement. Corticosteroids may have been helpful in the management of his encephalopathy.
22 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2021 | 2 |
| 2019 | 6 |
| 2018 | 6 |
| 2017 | 1 |
| 2016 | 3 |
| 2015 | 3 |