Internal medicine
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We herein report a novel de novo KCNH5 variant in a patient with refractory epileptic encephalopathy. The patient exhibited seizures at 1 year and 7 months old, which gradually worsened, leading to a bedridden status. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and cerebellar hypoplasia. ⋯ Lys214Gln variant in KCNH5 that was predicted to be deleterious. Recent studies have linked KCNH5 to various epileptic encephalopathies, with many patients showing normal MRI findings. The present case expands the clinical spectrum of the disease, as it is characterized by severe neurological prognosis, cerebral atrophy, and cerebellar hypoplasia.
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Case Reports
Remission of Cardiac Sarcoidosis after the Administration of Methotrexate as First-line Drug Therapy.
A 54-year-old woman developed new-onset heart failure and was diagnosed with cardiac sarcoidosis. An implantable cardioverter-defibrillator with biventricular pacing was implanted before immunosuppressive therapy to prevent sudden death. The patient refused oral steroids because she disliked their specific side effects and potential adverse events with long-term use; therefore, methotrexate was chosen as an alternative first-line drug. Nine months after starting oral therapy, 18F-fluorodeoxyglucose-positron emission tomography revealed remission of sarcoidosis, disappearance of heart failure symptoms, marked improvement in cardiac contractility, and a reduced frequency of ventricular arrhythmias.