Internal medicine
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Case Reports
Charcot-Marie-Tooth Disease with A Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.
Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood, and visual field defects in both eyes at 40 years old. ⋯ Patients with variants at codon 58 in GJB1 showed clinically varied phenotypes, ranging from demyelinating neuropathy to cerebellar ataxia. This patient may represent one of the various clinical phenotypes of GJB1 variants.
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The pathophysiology of idiopathic intracranial hypertension (IIH) and idiopathic normal-pressure hydrocephalus (iNPH) differs in terms of cerebrospinal fluid (CSF) pressure and imaging-related characteristics. A 51-year-old man presented with optic nerve papillary edema, visual disturbance, bilateral abducens nerve palsy, and a wide-based gait. Imaging showed characteristic findings of IIH and disproportionately enlarged subarachnoid space hydrocephalus (DESH) - characteristic of iNPH. ⋯ IIH with iNPH-like imaging features (DESH) was diagnosed, and ventriculoperitoneal shunt surgery was performed. Postoperatively, the visual acuity and visual field improved. This report also describes the distinct and overlapping pathophysiological mechanisms of IIH and iNPH.
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Case Reports
Hyperthyroidism-induced Cerebral Venous Thrombosis Presenting as Chronic Isolated Intracranial Hypertension.
A 38-year-old woman with untreated Graves' disease was admitted to our hospital because of headache and diplopia for 3 months. A neuro-ophthalmic examination showed bilateral papilledema and abducens nerve paralysis. The cerebrospinal fluid pressure was extremely high. ⋯ The patient recovered after propylthiouracil and anticoagulation therapy. We herein report a rare case of cerebral venous thrombosis with hyperthyroidism presenting as chronic isolated intracranial hypertension. Hyperthyroidism can induce a hypercoagulable state and lead to venous thromboembolism.
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A 33-year-old woman developed paresthesia in her right thumb approximately 30 minutes after receiving the BNT162b2 (Pfizer-BioNTech) severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine. The paresthesia gradually spread to her right-side limbs and trunk, and cervical magnetic resonance imaging (MRI) revealed a localized lesion in the right dorsal column. After glucocorticoid therapy, her symptoms and MRI findings improved. Although disease developing less than 24 hours after vaccination is considered an unlikely cause of immuno-associated adverse events following vaccination, we discuss the possible mechanisms involved in early-onset central nervous system inflammation after vaccination in view of preexisting immunopathological susceptibility.
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Objective Venous thromboembolism (VTE) is a common complication of severe coronavirus disease 2019 (COVID-19) and is associated with its prognosis. The fibrin monomer complex (FMC), a marker of thrombin generation, is reportedly useful in diagnosing acute thrombosis. To date, there has been only one report on FMC in COVID-19, and the usefulness of FMC in COVID-19 is unknown. ⋯ A multivariate analysis showed that severe progression was associated with elevated FMC levels (odds ratio, 7.40; 95% confidence interval, 2.63-22.98; p<0.001). Conclusion FMC can be useful for diagnosing VTE in the acute phase of COVID-19. Elevated FMC was found to be associated with severity on admission and severe progression.