Quiz 06/28/2022

Which of the following genetic disorders is most commonly associated with holoprosencephaly?

Which of the anti-seizure medications (ASMs) listed operates under zero-order kinetics at high doses?

A 50-year-old female presents with altered mental status. Her family states that over the past couple of weeks, the patient has had progressive memory loss, mood changes, and poor judgment. On examination, the patient has involuntary arm movements and an exaggerated startle response. Brain MRI, DWI sequence, is shown below. Which of the following is the most likely diagnosis?

A 19-year-old boy presents with his mother for complaints of frequent eye blinking and shoulder-shrugging spells occurring multiple times a day. He also has frequent episodes of humming a three-note tune randomly throughout the day. He has had these problems since he was 17. He had an MRI brain and EEG that were negative. He takes no medications. The symptoms do not impact his activities of daily living, but he does feel embarrassed by the symptoms. He went to cognitive behavioral therapy for this for a year and has not seen a benefit. Which of the following is a first-line medication for this patient?

Which of the following are actions of the superior rectus muscle?

Primary generalized dystonia is a genetic disorder that can be seen secondary to a mutation of which of the following genes?

Which of the following is true regarding IVIG and PLEX therapy?

You have recently diagnosed an asymptomatic 45-year-old man with Huntington’s disease based on genetic testing which was requested based on a family history of the disease. The patient was informed of these findings in the clinic with his wife by his side. On the following day, you receive a phone call from the patient’s 23-year-old son asking what the results of the testing were. What is the most appropriate response to this question?

A 38-year-old man presents to the emergency room with a 2-month history of headaches, increased thirst, and decreased libido. CT scan of the head shows a suprasellar, partially calcified mass. An MRI was ordered thereafter and is shown below. What is the most likely diagnosis?

What is the earliest NCS/EMG abnormality found in AIDP?

A 34-year-old woman comes to the emergency room with complaints of neck stiffness, headaches that are worse on standing, and diplopia. An MRI brain with contrast shows diffuse dural enhancement. Which of the following findings is also likely to be present in this case?

An MRI is ordered on a man with a known history of ischemic stroke and bilateral upper extremity weakness. Which of the following was the most likely cause of his ischemic injury?

A 35-year-old male presented for sudden onset painless central vision loss. An outside hospital emergency room physician suggested he may have had a CRAO, but recommended immediate ophthalmology outpatient evaluation. The patient was unfortunately lost to follow-up for a few months. He presents today due to a sudden onset of central vision loss in the other eye.

On your ophthalmologic exam, you note hyperemic optic nerve and tortuous central retinal vessels, without evidence of vessel cutoff. He has a central scotoma bilaterally, with peripheral vision intact. He has red color desaturation as well. MRI brain w/ and w/o contrast with fat suppression and thin cuts through the orbits is performed, and normal.

This disorder is caused by which of the following pathologic processes?

Which of the following genes is associated with Wilson’s disease?

Which of the following testing can be used to diagnose a small fiber neuropathy?