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A two-month-old female presents to the clinic with her mother for episodes of abnormal posturing of her head, neck, and abdomen when breastfeeding. Her mother states that the episodes last approximately 30 seconds to 1 minute. Episodes are followed by crying. Her birth history was normal, and she has met all of her developmental milestones. Of the following, what is the best treatment for this patient’s condition?
A 1-year-old female with a past medical history of iron deficiency anemia presents to your clinic with her mother for recurrent episodes of loss of consciousness. Her mother states that whenever she gets very agitated and starts crying, her lips turn blue and she will ”pass out.” She will then awaken after a few seconds. Her neurological exam is normal. Which of the following is the most likely cause of her episodes?
A two-week-old, full-term female with an uncomplicated delivery is brought to the clinic with abnormal jerky movements. Her father states that episodes occur right after the patient is put down for a nap, last for roughly 3 minutes, and resolve with arousal. During the episodes, the patient has rapid, repetitive myoclonic movements of her upper limbs. The physical exam is unremarkable. The patient was admitted to the Epilepsy Monitoring Unit where a typical event was captured and had no EEG correlate. Which of the following is the most likely diagnosis?
A four-day-old, full-term male with an uncomplicated vaginal delivery is brought urgently by his mother to the clinic after an episode concerning for possible seizure. His mother states that this morning when she accidentally dropped a pile of dishes on the floor, the child “tensed up”. She states that both his upper and lower limbs became rigid and he had violent jerking movements of all limbs for approximately 40 seconds. This patient’s condition is most likely due to a mutation in which of the following genes?
A consult is placed for paroxysmal episodes in a 6-day-old male infant born at 32 weeks gestation. According to his mother, the infant seems to be shivering a lot “like he is cold”. The mother states that she has been wrapping him in warm blankets and keeping the room at a warm temperature. On physical exam, the infant is alert and interactive, without persistent focal neurological deficits. However, when touching the left arm, the patient develops a fine tremor that resolves after flexing the affected limb. Vital signs are within normal limits. Which of the following is the most likely diagnosis?
A 6-month-old boy with no significant past medical history is brought to the clinic by his father because of abnormal limb movements that occur multiple times a day. His father describes high-frequency, low amplitude rhythmic movements that start in the child’s head and quickly spread down the shoulders. Episodes last approximately 1-2 seconds. There are no clear triggers and there is no loss of consciousness associated with the events. Family history is significant for essential tremor in the patient’s mother. Which of the following is the most likely diagnosis?
A 16-year-old girl with no significant past medical history presents to the clinic with 2 episodes of syncope in the past month. She states that both of the episodes occurred while giving oral presentations in front of her class. She reports that she has been under a lot of stress lately because of a midterm paper and that her parents are going through a divorce, which has taken an emotional toll on her. Before each episode of syncope, she feels warm and starts to get lightheaded, and “sees stars”. Each episode of syncope lasts approximately 15 seconds, and she does not have any confusion after the episodes. The physical exam is within normal limits. Which of the following is the most likely cause of this patient’s syncope?