Toxic / Metabolic

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 4-year-old boy is brought to the pediatric neurology clinic with 4 months history of progressive dysarthria, ataxia, and abnormal limb movements. His mother says that the patient’s right side of the mouth seems to be pulled to the right and his left arm always seems to be pulled up towards his chest. An MRI was performed and shown below. What is the likely diagnosis?

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?

A 21-year-old male with a history of cirrhosis, dysarthria, and personality changes was brought to the emergency room after experiencing a 20-minute episode of right-sided weakness. An MRI was performed to evaluate for a possible stroke. An axial cut of a FLAIR sequence is provided below. What is the likely diagnosis of the patient’s chronic illness?

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 45-year-old patient presented to the emergency room unresponsive. Emergency medical services noted that the patient was found in his garage with the car running in an apparent suicide attempt. Despite appropriate medical care, the patient passed away. An autopsy was performed. A gross pathology image is shown below. Identify the following regions marked by the white arrows.

Chronic exposure to which of the following medications can cause the pathology appreciated on the pathology slide below?

A 58-year-old male with a prolonged history of MG was recently discharged 4 months ago from the hospital with his second myasthenic crisis requiring transient intubation. Since that hospitalization, he was on prednisone, tapered down to 40 mg a day, cyclosporine, and pyridostigmine. He comes to the ED today after having a generalized tonic-clonic seizure. On arrival to the ED, the patient is post-ictal and has vision deficits on exam. MRI shows T2 hyperintensities on the posterior cerebral hemispheres. Which of the following is the likely etiology of the clinical presentation?

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 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 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 69-year-old man with HTN, CKD, HLD, tension headaches, and gout presents for 6 months of slowly progressive weakness. He has trouble rising from a chair without assistance and lifting objects above his head. On sensory exam, you note a bilateral symmetric loss of proprioception, vibration, and light touch in the feet and distal lower legs. He brings with him an EMG/NCS report from last week from an outside provider. It shows a length-dependent axonal neuropathy, as well as early recruitment and low amplitude action potentials on EMG of the proximal muscles. Serum CK is obtained and 3200. Which of the following is the most likely cause of his problem?

You are caring for a 1-month-old infant in the neonatal ICU with abnormal movements since birth. The baby is seen writhing in bed, with her arms and legs and axial trunk moving in a snake-like pattern. A CT head is done and shows bilateral cystic lesions on the basal ganglia. Toxic levels of which of the following are most likely at play?

Which of the following is most likely to cause the pathology seen in the image below (white arrow)?

A 42-year-old welder complains of a one-year history of progressive resting tremor, shuffling gait, and drooling. He consults a physician because of frequent falls and worsening fatigue. A diagnosis of a particular type of metal toxicity was made and treatment is started. Which of the following would most likely be found if an MRI brain if ordered?

A 37-year-old woman with a history of chronic alcoholism and amphetamine abuse presents to the ED with a 36-hour history of recurrent hematemesis and abdominal pain. She had no detectible ethanol levels in her blood on arrival. In the ED she complains of double vision and is started on intravenous fluid replacement. Two hours later the patient begins to develop ataxia and becomes progressively disoriented. The patient’s rapid deterioration is most likely due to which condition?

A 33-year-old industrial worker presents to the ED complaining of sudden onset nausea, bilateral headache, dyspnea, confusion, and eye irritation. His skin is flushed on physical exam. He states he forgot to wear protective equipment (mask, gloves) while working. A T2 flair MRI of the brain is shown. Exposure to which of the following substances is likely?

An 8-month boy is brought to the pediatrician by his parents with the chief complaint of muscle weakness and poor feeding. The boy’s parents recently emigrated from Latin America where they didn’t have good access to medical care. Physical examination is concerning for hepatomegaly and hypotonia. A muscle biopsy was completed and shown below. What is the most likely diagnosis?

The imaging shown below is most consistent with which of the following diseases?

A 7-month-old girl with a past medical history of hypotonia, weight loss, and failure to thrive is brought to the clinic by her parents. An MRI was performed and T2 sequence images from this study are shown below. What is the most likely diagnosis?

Metachromatic leukodystrophy is due to a deficiency of which of the following enzymes?

Patients with Krabbe disease have a pathologic accumulation of which of the following?

Neimann-Pick disease occurs due to a mutation of which of the following enzymes?

A 20-year-old man with a history of poorly controlled schizophrenia was admitted to the hospital by his parents for severe bizarre hallucinations. He informed the nursing staff that there were toxins in his body that needed to be flushed out and continuously asked for water. There was a concern for psychogenic polydipsia. Over the next two days, the patient was started on haloperidol, a fluid-restricted diet, and normal saline infusions. On the second day of hospitalization, the patient developed progressive confusion and gait instability. A brain MRI was performed and is shown below. Which of the following is the most likely etiology of his symptoms?

A 6-month-old previously healthy male is seen in your clinic due to feeding difficulties and weakness for the past 8 days. The mother reports that he has also not had a bowel movement in 3 days. On physical exam, the patient demonstrates a weak cry, severe hypotonia, and hypo-responsiveness. No one else in the family is sick, however, they have been eating homemade molasses for the past 4 weeks. This patient’s condition is caused by a toxin affecting which structure?

A 16-year-old male is seen in the clinic for burning and tingling sensations in his upper hands and feet. Additionally, he is a soccer player and states that he does not sweat during physical activity. On physical exam, he has diffuse red-blue papules in his gluteal region, around his navel and nipples, and on his buccal mucosa. There is no family history of skin lesions. This patient likely has a defect in which protein?

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 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?

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?

Which of the following is most likely to be damaged by carbon monoxide toxicity?

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 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

You are consulted to the psychiatric hospital to see a 48-year-old female with schizophrenia who has been under psychiatric care for 2 weeks after ingesting hundreds of pennies over a prolonged period. You are asked to address her new complaints of numbness in her feet and trouble walking. On exam, she had a broad-based gait and a positive Romberg. What could explain these findings?

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 4-year-old boy is in the hospital for headache and abdominal pain and is being treated by the pediatric service for possible constipation, for which they have given polyethylene glycol. You are consulted due to the new onset of inability to extend his left wrist. On exam, you note a bluish coloration of the gingiva.

A peripheral blood smear is requested and shows microcytic RBCs with basophilic stippling. Anemia in this disease is caused in part by inhibition of which of the following?

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 61-year-old male with a past medical history of GI cancer status post gastric resection at age 57, consequently on parenteral nutrition, presents to your clinic for a second opinion. He complains of slow movements and rigidity in his arms and legs that have slowly progressed over the last year. He denies tremors or cognitive change. He saw a different neurologist who started him on carbidopa/levodopa 6 months ago but the response has been minimal and he continues to get worse. You decide to perform a brain MRI and you see bilateral hyperintensity of the globus pallidi on the T1-weighted image. What treatment should you add?

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?