Free Neurology Questions for Medical Students
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Medical Students’ First Free Neurology Question
A 5-year-old girl presents for episodic “loss of control of feet and legs.” Her mom reports that while her pregnancy and the patient’s neonatal history were uncomplicated, her developmental history is remarkable for walking at 18 months and, more recently, academic-related difficulties. The leg episodes are very often painful and triggered by activities such as walking home from school or stress.
The examination reveals dysarthria and ataxia. The results of an MRI of the brain are normal except for delayed myelination of U-fibers. The results of an interictal EEG are shown in the exhibit.

The mother notes that the patient has never had a clinical seizure. On later workup, a lumbar puncture is performed; CSF analysis reveals a glucose level of 25 mmol/L.
What is the best course of treatment?
A) Physical therapy
B) Diazepam
C) Acetaminophen
D) Levetiracetam
E) Dietary changes
Answer and Explanations
The ketogenic diet is the treatment for glucose transporter 1 (GLUT1) deficiency syndrome 2.
GLUT1 deficiency syndrome 2 is primarily characterized by onset in childhood of paroxysmal exercise-induced dyskinesia and often ataxia. Some patients may also have epilepsy, and mild intellectual disability may also occur. Ninety percent of GLUT1 deficiency syndrome cases are due to de novo mutations of the SLC2A1 gene.
The CSF profile seen in GLUT1 deficiency is classically characterized by a low glucose concentration (hypoglycorrhachia). Interictal EEG is also most commonly abnormal and typically can display generalized spike slow-wave discharges, as seen, for example, in the exhibit, characterized by 1.5- to 2-Hz spike slow-wave discharges appreciated maximally over the bilateral frontal fields.
The ketogenic diet is the current standard-of-care treatment, improving seizures, movement disorders, and cognitive delays. It is a diet high in fat and low in protein and carbohydrates, thus limiting glucose intake. The fat in the diet is converted by the liver into ketone bodies, which leads to a build up of ketones in the blood stream, called ketosis. Ketone bodies are transported across the blood-brain barrier by means other than the GLUT1 protein and, thus, serve as an alternate fuel for the brain.
Did you get it right? The correct answer is: E
- Answer A: Physical therapy should be considered as adjunctive therapy but is not superior to the ketogenic diet as a stand-alone treatment.
- Answer B: An ongoing prescription for diazepam would not address the underlying etiology of the dyskinesias; long term, it could also lead to tolerance.
- Answer C: Acetaminophen is not highly effective for treating painful dystonia; additionally, long-term use can place the patient at risk of medication-overuse headache or effects on the liver.
- Answer D: An estimated 10% of individuals with GLUT1 deficiency do not have seizures, and their symptoms are typically less severe. Most patients with nonepileptic GLUT1 deficiency will have developmental delay and movement disorders, such as ataxia or dystonia. Interictal EEG, however, may still be abnormal, displaying either focal slowing or epileptiform discharges, as shown in the exhibit. When seizures are present, antiseizure medications are generally not effective because they do not provide nourishment to the starved brain.
Bottom Line: Recognizing the underlying etiology of a disorder is crucial in determining the most effective treatment through understanding of its underlying pathophysiology.
For more information, see:
Glucose Transporter Type 1 Deficiency Syndrome on Rare Diseases
Klepper J. Paroxysmal nonepileptic events in glut1 deficiency. Mov Disord Clin Pract. 2016 Nov-Dec;3(6):607-610.
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