Quiz 06/09/2022

A 3-day-old male infant is evaluated in the NICU for fever and focal seizures. He was born at 39 weeks gestation via uncomplicated vaginal delivery and had good APGAR scores. Brain imaging shows periventricular calcifications and severe ventriculomegaly. Auditory testing also demonstrates bilateral hearing impairment. What is the most likely cause of the patient’s symptoms?

A 28-year-old woman with a history of intractable epilepsy presents to you for outpatient follow-up. She has been seizure-free on valproic acid and levetiracetam for the last 18 months. She reports a desire to become pregnant and asks if she has an increased risk of in-utero defects with her medications. Which of the following is the most appropriate answer to this question?

A 24-year-old college student presents with uncontrolled epilepsy. His seizures consist of an aura of déjà vu followed by oral automatisms and periods of unresponsiveness. The neurological examination is normal. MRI of the brain is performed and shown below. What is the etiology of this patient’s epilepsy?

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?

A 24-year-old male presents to the clinic with numbness in the hands and feet. He has been experiencing these symptoms since his late teens, but the numbness has gotten progressively worse. Additionally, he has been stumbling and losing his balance more frequently in the past 18 months, and he received a new pair of glasses because he was having trouble with his vision at night. On physical exam, he has decreased sensation to vibration and pinprick in his bilateral lower extremities and palpable, enlarged nerves. Laboratory studies reveal an elevated level of phytanic acid. What is the most likely diagnosis?

What seizure type is most commonly seen with the pathology shown in the image below?

A 48-year-old patient with a past medical history of chronic migraines is brought in by her family with sudden-onset memory complaints. She is unable to recall where she lives or even her own name. A brain MRI (Left: DWI. Right: ADC.) is shown below. Which of the following is the most likely diagnosis?

A mutation in which of the following genes would be most likely in a patient with numerous cavernous malformations seen on head imaging?

A 20-year-old female presents with complaints of 2 years of excessive daytime sleepiness and brain fog during the day. She reports sleeping is unrefreshing. In the morning she has difficulty waking up and feels an uncontrollable desire to go back to sleep. She denies difficulty staying asleep during the night and denies episodes of suddenly collapsing in stressful situations. She had a polysomnogram where she slept for 12 hours, had 4 apneic episodes per hour, had REM sleep onset latency of 7 minutes, and did not have sleep-onset REM periods (SOREMPs). Which of the following is her diagnosis?

Identify the pattern seen in the 5th second of this EEG recording.

A 12-year-old male is brought to the clinic accompanied by his father who states that for the past 4 months he has been randomly flailing his arm during class and calling out in the middle of the teacher’s lectures. He has been sent to the principal’s office twice in the past month for his disruptions. His father states that this is very out of character for him. In the clinic, the patient has intermittent movements of his right arm, where he raises his arm above his head and then slaps it down on his leg. Additionally, during the exam, he blurts out words that do not make contextual sense in the conversation. Two months later, the patient follows up with his father who states that all of the abnormal movements and vocalizations have resolved. What is the most likely diagnosis?

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

A 5-month-old female is brought to the emergency room by her parents because of an episode concerning for possible seizure. On arrival, the patient appears back to her clinical baseline neurologically. Several hypomelanotic lesions are appreciated while performing a skin check. The mother notes that her older brother has similar skin findings. An EEG is performed and shown below. A typical event was captured that correlated with an electrodecrement of cortical activity on EEG.

Based on the child’s diagnosis, what is the most appropriate therapy?

A 67-year-old woman suffers from sustained involuntary contraction causing her head to be forcibly turned to the right and significant discomfort. On exam, her left sternocleidomastoid is significantly hypertrophied. She receives treatment with Botulism Toxin A. Subtype A of botulism toxin acts to reduce synaptic action of acetylcholine by what mechanism?

A 26-year-old physics teacher and mother on valproic acid (VPA) for epilepsy presents to your clinic with her husband stating she wishes to try to become pregnant soon. She asks how anti-seizure medications (ASMs) used during pregnancy may impact the intelligence and school performance of her child. Which is the most accurate response?