Mevalonic aciduria is a rare autosomal recessive disorder resulting from mevalonate kinase deficiency. Neuroimaging findings associated with the disease have been documented in only a few case reports. We present a case of mevalonic aciduria with both already reported and novel neuroimaging findings and conduct a literature review regarding the role of neuroimaging in the understanding and diagnosis of mevalonate kinase deficiency disorders.
View Article and Find Full Text PDFEight-and-a-half syndrome (EHS) is a neuro-ophthalmological condition characterised by horizontal gaze palsy, internuclear ophthalmoplegia, and ipsilateral facial palsy. Albeit rare, EHS is a well reported condition in the literature, with several reports presenting multiple aetiologies. Infarcts are the cause in more than half the cases.
View Article and Find Full Text PDFThe purpose of this article is to report the case of a 53-year-old black man, with no previous comorbidities, who presented 48 days after a confirmed diagnosis of COVID-19, complaining of an initially insidious epigastric pain that had progressed to severe pain radiating to the interscapular vertebral region, with hyporexia and episodes of projectile vomiting, with no nausea or fever. Laboratory tests revealed no signs of acute infection or pancreatic injury. Abdominal computed tomography showed dilated, fluid-filled small bowel loops with thickened walls.
View Article and Find Full Text PDFPolycythemia vera (PV) is a chronic myeloproliferative neoplasm (CMN) characterized by the accumulation of red blood cells, granulocytes and platelets in the peripheral blood. The main complications of PV are an increased risk of thrombosis, bleeding and transformation to myelodysplasia or acute leukemia. The authors report the case of a 28-year-old man with a complaint of macroscopic hematuria, low back pain and edema of the left arm associated with elevated hemoglobin, hematocrit and lactic dehydrogenase, leukocytosis and increased renal volume.
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