Ornithine transcarbamylase deficiency
Jun. 21, 2023
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In a 34-year-old female with longstanding uncontrolled diabetes mellitus who presented with quadriparesis and dysphagia, laboratory investigations showed high HbA1c (12.3%), high blood glucose (278 mg/dL), increased serum osmolality, and normal corrected sodium (138 mg/dL). This axial FLAIR image shows marked hyperintensity over the pons (black circle). (Source: Mir WA, Shrestha DB, Aryal BB, Reddy VK, Yadullahi MA. Central pontine myelinolysis secondary to hyperglycemia in a young patient. Cureus 2021;13:e18495. Creative Commons Attribution license [CC BY], https://creativecommons.org/licenses/by/4.0.)