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You are asked to see a 2-month-old infant girl with hypotonia, macroglossia, failure to thrive, and cardiomyopathy. Muscle biopsy is done due to the hypotonia, and shows PAS+ vacuolar myopathy. What is the best treatment approach?
A 26-year-old female presents with unilateral vision loss. She says that she noticed symptoms upon awakening yesterday morning and it has gotten progressively worse since then. On neurological examination, she has 20/70 visual acuity of the left eye and 20/20 of the right. There is a left afferent pupillary defect (APD). Extraocular movements are intact but cause pain. What is the most likely etiology of her symptoms?
A 78-year-old male with a past medical history of depression and chronic alcohol use presents to the clinic with his wife for evaluation of a tremor. He states that the tremor is most severe at rest and disappears with purposeful movement. His wife states that he has been having slower movements over the past year. On physical exam, a “pill-rolling” resting tremor is noted in his left hand and the patient has difficulty with gait initiation and takes short steps when walking forward. Which dopaminergic pathway is most likely affected in this patient?
A 4-year-old male is brought to your clinic by his father who states that he has been experiencing random jerky movements of his arms and his neck for the past year. His father states that the jerky movements have not gotten worse over time but tend to appear more when the boy is agitated or under stress. The movements cease when he is asleep. The patient has otherwise been meeting all of his developmental milestones. Genetic testing reveals a mutation in TITF1, a thyroid transcription factor. What is the diagnosis?
A 37-year-old retired nurse is being evaluated in the emergency room for excessive diarrhea. She has been in the emergency department multiple times in the past for similar complaints and diagnostic testing has repeatedly been unremarkable. While casually talking to the nursing staff, the patient accidentally knocks over her purse and several bottles of laxatives fall out. Which of the following is the most likely diagnosis?
A 65-year-old male with a history of alcoholic cirrhosis presents to the emergency department with dark black coffee-ground emesis. He is found to have a systolic blood pressure of 76/40 and is tachycardic to 120 BPM. Which nerve is most responsible for carrying the afferent fibers from carotid sinus baroreceptors that cause the reflex increase in heart rate seen in this patient?
The pathologic findings on the image shown below can be secondary to bilateral mononeuropathies involving which of the following nerves?
Which of the following genetic disorders is most commonly associated with holoprosencephaly?
A 58-year-old woman presents with worsening memory loss and a 50-pound weight gain over the past six months. On neurological exam, her Mini-Mental Status Examination (MMSE) yields a score of 21/30. She has intact sensation, normal muscle bulk, tone, and strength, but diffuse hyporeflexia. Which of the following is most likely the diagnosis?
The abnormalities appreciated on the MRI below are due to a defect in which of the following processes?