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A 6-year-old girl presents to the clinic with frequent episodes of awakening from sleep in extreme fear. Sometimes she has a brief twitching of the limbs with this. She has these events in clusters on some nights, lasting seconds to minutes. On further questioning, you discover the mother had a similar problem when she was around this age, which slowly got better over time. Both patient and mother are otherwise healthy with no intellectual deficits or symptomatic features. Which of the following gene mutations do they both likely share?
Patients with Charcot-Marie Tooth disease that have the CMT1A phenotype will have which of the following genetic mutations?
Which of the following can be appreciated on the T1 MRI sequence shown below?
A 50-year-old Caucasian woman with no past medical history is admitted to the psychiatric hospital after trying to jump from a moving bus. She reports the other passengers were laughing at her in their minds, and trying to steal her thoughts. Upon arrival to the psychiatric floor, she is witnessed to have sudden left eye deviation with right arm twitching for a few seconds before turning her head, screaming loudly, and falling to the floor with full-body convulsions, lasting 2 minutes.
You, the attending neurologist, are consulted to help evaluate. On exam she is easily distractible, looking to the corners of the room for security cameras. You contact her husband who states she has never had any problems like this before, but she has gone downhill over the last 3 weeks, forgetting people and places, repeating herself, and acting strangely.
Lab evaluation reveals normal CBC, BMP, TSH, T4, free T4, and T3. The comprehensive drug screen is negative. MRI brain w/ and w/o contrast is normal appearing. Lumbar puncture is with 18 cmH20 opening pressure, 0 WBCs, 1 RBC, 50 protein, and 55 glucose. The autoimmune panel is sent and anti-microsomal antibodies are elevated. What is the most likely diagnosis at this time?
A 27-year-old woman presents with recurrent episodes of tinnitus, vertigo, and hearing loss. She denies any associated headaches. Episodes typically last between 2 and 6 hours in duration. MRI of the brain with and without contrast did not reveal any pathology. Physical examination is unremarkable except for sensorineural hearing loss appreciated in the right ear. Which of the following is the most likely diagnosis?
A 30-year-old woman has visual evoked potentials performed that show a right eye P100 latency of 140 msec and a left eye P100 latency of 103 msec. Which of the following is the most likely cause?
Which of the following medications do not worsen myasthenia gravis symptoms?
A 38-year-old man with a past medical history of HIV, depression, and asthma presents after experiencing a first-time seizure. He was last seen normal about 45 minutes ago by his husband, who witnessed him seizing for about 10 minutes. A CTH is performed and normal. A lumbar puncture is performed and reveals the findings below. Which of the following is the most likely cause of the patient’s symptoms?
Based on the findings on the muscle biopsy (trichrome stain) shown below, which of the following is most likely seen on examination of this patient?
Where is the anatomic origin of the normal EEG sleep structure seen in the 3rd second of this recording?
A 37-year-old male with the chief complaint of insidious unilateral hearing loss was found to have an acoustic neuroma on MRI. If a brainstem auditory evoked potential (BAEP) was performed which of the following would be most likely found?
Which of the following genes is responsible for familial ALS?
A 38-year-old man visiting from India presents to your clinic as a new patient for months of weakness in bilateral ankles to dorsiflexion and plantar flexion. On exam, he has diminished reflexes. He had an EMG done recently, showing axonal neuropathy in the lower extremities. He does not have his medication list with him, but he states he has taken a medication prescribed in India for “a cough” for several months. Which of the following labs would provide the highest yield?
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?
Which answer correctly identifies all of the cranial nerve(s) that transverse through the structure (blue arrow) shown below?
A 48-year-old man with a 20-year history of HIV stable on HAART therapy presents to your clinic accompanied by his partner who states that the patient has had mounting difficulties over the last 3 years. Most recently he has been unable to effectively manage finances, cook for himself, or arrange appointments. What is the best diagnosis at this time?
Which of the following vessels drains into the sigmoid sinus?
Which of the following cranial nerves is most likely to be affected by increased intracranial pressure?
Patients with Alzheimer’s disease usually have a loss of cholinergic neurons from which of the following regions?
A 38-year-old man presents with frequent headaches over the past year and recent development of polydipsia and polyuria. He has also been complaining of a dry cough, shortness of breath, and erythematous nodules along his shins bilaterally. MRI of the brain shows a contrast-enhancing lesion of the hypothalamus. Which of the following is the most likely diagnosis?
A 65-year-old male with a past medical history of diabetes, hypertension, and a 40-pack-year smoking history comes into the ED with an acute onset of ataxia, left facial numbness, right arm, and leg numbness, and dizziness. He also has intractable hiccups. A CTA angiogram shows the cause of the patient’s symptoms. Based on the clinical exam, which of the following arteries is occluded?
A 16-year-old male with no significant past medical history presents to the emergency room with vision complaints and coordination issues. Four days ago, he began experiencing double vision and since then has had progressive difficulty picking up objects and buttoning his shirts. On physical exam, the patient has a decreased range of motion of the extraocular muscles bilaterally, as well as areflexia and ataxia when walking. What is the most likely diagnosis?
A 56-year-old man with a past medical history of hypertension and type II diabetes presents to the hospital with acute onset left-sided weakness which started 90 minutes prior to your evaluation. His only medications prior to admission were metformin and verapamil. Vitals were within normal limits except for a blood pressure of 154/92. Physical examination reveals 3/5 weakness in the left arm, leg, and face as well as a moderate sensory disturbance in the same regions. CT head was unremarkable and CT angiogram (CTA) showed no large vessel occlusion. A brief history gathered from his wife revealed no other comorbidities or active medical issues. At this point in his clinical presentation, what is the mechanism of action of the most appropriate therapy?
What is the anatomical structure marked by the blue arrow?
A 65-year-old man presents to the emergency room with progressive weakness over the course of several months. Examination shows pure motor weakness with no sensory involvement, decreased reflexes, and diffuse fasciculations. An EMG shows conduction block of motor neurons outside of compression sites and normal sensory conduction velocities. Which of the following antibodies is associated with this disease?