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Question: hypoglycemia

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You are seeing a 3yo girl brought in by ambulance after a new-onset seizure. The patient has no past medical history, but has been having an acute viral gastroenteritis for the last 24 hours, as have several family members. She has had decreased oral intake, vomited 3 times non-bloody non-bilious, and had 3 episodes of watery non-bloody diarrhea. She is afebrile. She went to bed at 9:30pm, sleeping next to her parent, and the parent was awakened by her having a generalized tonic-clonic seizure at 6am. Per EMS, seizure had resolved on their arrival but she was lethargic; point-of-care blood glucose was 40 mg/dL in the field, and she was given 5 mL/kg of D10W IV with patient becoming more alert. In the ED, her urine dip is positive for ketones.

What is the most likely diagnosis
15 votes
EndocrineMetabolic

pemsou5_wp • February 9, 2021


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  1. Kelly February 12, 2021 - 6:31 pm Reply

    D) Idiopathic ketotic hypoglycemia
    Idiopathic ketotic hypoglycemia is a common cause of hypoglycemia presenting in young healthy children outside the first 6 months of life. It typically occurs after a long fast, whether due to overnight fasting or, more commonly, illness. Most patients first present at < 5 years of age, and episodes often phase out as children grow older. Patients will have ketonuria. Post-overnight fasting episodes are prevented by giving a slow release carbohydrate such as cornstarch right before bedtime. Infants presenting with fatty acid oxidation disorder may have hypoglycemia, but will be nonketotic. They also typically present in the neonatal period, as does classic salt-wasting congenital adrenal hyperplasia. Late onset glycogen storage diseases more often present with hepatomegaly or exercise intolerance and muscle weakness. The patient was asleep overnight, so it is unlikely that she found and took an oral hypoglycemic medication.

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