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A 7-day-old infant is in the hospital since birth when he starts having seizures. He has been feeding poorly thus far. On examination, he has hypotonia, as well as distinctive facial features of midface hypoplasia, hypoplastic supraorbital ridges, and a prominent high forehead. The metabolic testing panel returns with elevated very-long-chain fatty acids. What is the physiology of this disorder?
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?
Metachromatic leukodystrophy is due to a deficiency of which of the following enzymes?
A 28-year-old caucasian male was last seen well at 9:00 AM when he got into a verbal argument with his girlfriend. When the girlfriend returned from work at 5:00 PM, she found the patient on the floor of the garage altered, and states he “smelled unusual”. In the emergency department, the patient is disoriented but arousable with much effort. He complains of a headache and blurred vision, and he appears uncomfortable with a respiratory rate of 40. You send stat labs and they are listed below. What treatment should you administer immediately?
ABG: 7.18 pH, PCO2 = 28, PO2 = 118
Electrolytes: Na 135 mEq/L, K 5.0 mEq/L, Cl 105 mEq/L, HCO3 15 mEq/L
Which of the following is most likely to be damaged by carbon monoxide toxicity?
A 6-year-old patient presents with a decline in neurologic function with ataxia, optic atrophy, spastic tetraparesis, and cognitive decline. MRI shows diffuse white matter demyelination with sparing of the U fibers. Which of the following laboratory tests is most likely to diagnose this problem?
A 42-year-old man with a longstanding history of chronic alcohol abuse was found down unresponsive in a public park. He was intubated in the field and brought emergently to the emergency room where his blood alcohol level was 0.32%. A chest X-ray revealed aspiration pneumonia. He was admitted to the ICU, sedated, started on broad-spectrum antibiotics, and aggressively fluid resuscitated. On the second day of the hospitalization, the sedative was weaned but the patient remained comatose. An MRI was performed to identify a possible cause of his symptoms. What is the most likely diagnosis?
A 62-year-old woman with a history of rheumatoid arthritis presents with insidious onset of painless proximal muscle weakness and atrophy. A serum CK is obtained and is normal. TSH is also normal. Her medication list includes lisinopril, aspirin, and prednisone. EMG shows short-duration motor unit potentials in the deltoids and quadriceps bilaterally. A muscle biopsy is performed. Which of the following will most likely be appreciated?
A 65-year-old woman with a past medical history of hypertension presents with recent onset of bilateral eye discomfort and diplopia. She states that she is unable to completely close her eyes. On exam, pain is elicited when testing extraocular movements. Visual acuity and visual fields are unremarkable. MRI of the brain reveals excessive peri-orbital subcutaneous tissue bilaterally. Which of the following is the most likely diagnosis?
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 42-year-old man presents to the emergency department with recurrent falls, mild confusion, and visual changes. Physical examination reveals a wide-based gait, nystagmus, and ophthalmoplegia. Deficiency in which of the following is the most likely cause of the patient’s symptoms?
A 60-year-old female with a past medical history of chronic alcohol use was admitted to the hospital 4 days ago for community-acquired pneumonia. Over the last 48 hours, the patient developed severe encephalopathy and generalized weakness. An axial T2 FLAIR MRI is shown. Which of the following is the most likely diagnosis?
A 38-year-old woman with a history of gastric bypass begins taking over-the-counter supplements that are intended to promote hair and nail health. After several months, she begins to experience paresthesias in her legs and has several falls. She is referred to a neurologist. On examination, she is noted to have non-length-dependent severe loss of vibration sensation in her legs, loss of pain and temperature distally in a length-dependent pattern, and spastic tone with hyperreflexia in her lower extremities. Additionally, her gait is wide-based and a Romberg’s sign is positive. Which of the following treatments is most likely to prevent further neurologic deterioration?
A 40-year-old textile worker is brought to the clinic for slowly progressive symptoms including shuffling gait, tremor, and profuse drooling. On examination, his speech is difficult to understand and there is cogwheel rigidity in his arms and legs. His tremor is most evident when his limbs are at rest. Exposure to which of the following is the most likely cause of the patients’ symptoms?
A chronic alcoholic is admitted to the hospital for altered mental status. An MRI is performed and shown below. What symptoms/signs are most likely seen on examination?