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Neimann-Pick disease occurs due to a mutation of which of the following enzymes?
A 12-day-old male is brought to the pediatrician by his mother with a two-day history of rash. The child was born full-term to a G2P2 mother with good APGAR scores. On physical exam, the pediatrician notes that the child has a pink, crusting, maculopapular rash over his buttocks, thighs, and soles of his feet. She states that a week after his birth he had the “sniffles” and a lot of white discharge from his nose. On exam, there is hepatomegaly and generalized lymphadenopathy. Which of the following is the most likely cause of the patient’s symptoms?
What findings would be found on EMG/NCS in a patient who presents with a small fiber neuropathy?
A 48-year-old woman presents with acute onset of seizures, myoclonus, ataxia, and rapidly progressive dementia. CSF analysis reveals an elevated protein and mild pleocytosis. Brain MRI with and without contrast is unremarkable. Further investigation reveals elevated thyroid-stimulating hormone levels and anti-thyroid peroxidase antibodies. Which of the following is the most appropriate therapy?
Which of the following arteries provides the prominent supply to the posterior limb of the internal capsule?
Which of the following medications is considered a first-line agent for the management of juvenile myoclonic epilepsy?
Hyperammonemia is a side effect seen with which of the following antiepileptic drugs?
Vasogenic edema would be best appreciated on which of the following MRI sequences?
A 6-month-old male is admitted to the ED for acute respiratory failure. On examination, he has generalized weakness, diffuse hypotonia, and areflexia. He was admitted to the pediatric Intensive Care Unit and intubated. A chest X-ray showed a narrow chest. EMG/NCS was performed showing axonal motor polyneuropathy with tongue fasciculations and signs of chronic denervation. What is the most likely pathologic etiology causing this presentation?
A 56-year-old male comes to the clinic with a burning and tingling sensation in his feet and hands for the past 4 months. He has a history of morbid obesity and underwent gastric bypass surgery last year. On physical exam, he has 3+ ankle and patellar reflexes. He also has a positive Babinski and positive Romberg sign. There is impaired position and vibration sense in his big toe bilaterally. This patient’s condition is most likely due to a deficiency of which of the following?
Which of the following structures is well myelinated in a full-term (40-week) infant?
The epileptologist’s EEG report for a patient in the neuro-ICU identifies a “burst suppression” pattern. Which of the following is not a criterion required to diagnose burst suppression?
A 50-year-old male farmer presents to the emergency department with diarrhea, steatorrhea, weight loss, abdominal pain, and joint pain in his shoulders and hips. He also displays constant rhythmic eye movements and repetitive facial muscle contractions. Intestinal biopsy reveals macrophage inclusions that positively stain with periodic acid-Schiff. What is the most likely etiology of this patient’s presentation?
Which of the following is the primary source of norepinephrine in the brain?
A 32-year-old man with a past medical history of major depressive disorder is brought to the emergency department by his roommate who states that a few days ago the patient stopped taking his medications. Vital signs were within normal limits. On examination, the patient was non-verbal except for occasionally repeating words spoken by the examiner. He would not follow commands. When his arms were positioned off the bed they remained there for several minutes. CT head and CTA of the head and neck were normal. Which of the following is the most appropriate next step in treatment?