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https://www.selleckchem.com/products/crenolanib-cp-868596.html Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects.Lateralized periodic discharges (LPDs) are unilateral electroencephalography (EEG) waveforms, recurring at regular intervals. There has been a long-lasting debate about whether they represent ictal or interictal phenomena. Very few patients in the literature have been investigated with multimodal functional imaging techniques. Here, we present a 58-year-old male patient with symptomatic epilepsy who had cerebral venous sinus thrombosis in the right temporo-parietal area and dural arteriovenous fistula (dAVF) over the left fronto-parietal region. He developed acute speech disturbances and altered mental status after a generalized tonic-clonic seizure. Video-EEG monitoring (VEEGM) demonstrated LPDs over the left fronto-central area, overlapping in part with the dAVF. Diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) sequences revealed restricte

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