2 research outputs found

    Acute onset monoparesis in newly diagnosed patients with type 2 diabetes mellitus with poor glycemia

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    In newly diagnosed patients with diabetes with poor glycemia, presentation is sometimes acute onset monoparesis, which eventually improved with good glycemic control. To report an unusual patient with newly diagnosed diabetes whose initial manifestation was acute onset monoparesis. A 58-year old female patient with new onset type 2 diabetes mellitus with diabetic ketoacidosis (DKA) who presented to us with acute onset monoparesis (right lower limb) lower motor neuron (LMN) type without bladder involvement, secondary to poor glycemia which eventually resolved with good glycemic control

    Paroxysmal exercise induced dyskinesia and writer’s cramps in twin siblings with SLC2A1 mutation

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    Paroxysmal exercise induced dyskinesias (PED) are rare disorders with recurring episodes of sudden involuntary movement disorders precipitated by physical exercise. It had been reported that less than 20% of PED patients carry an SLC2A1 mutation encoding GLUT 1 of whom 49 patients have been identified worldwide We hereby reported a case of twin siblings, 23 year old male with no antecedent other past illness and family history presenting with writer’s cramps and paroxysmal exercise induced dyskinesia attributed to milder phenotype of glucose transporter type 1 deficiency with the heterozygous exon-6 SLC2A1 gene mutation. Ketogenic diet in these patients may help in these cases
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