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A 25-year-old woman shows growths on her lips and tongue, cafe au lait spots, and nodules on her skin. What condition is she at greatest risk for?
What genetic disorder is characterized by neurofibromas, cafe au lait spots, and an increased risk of optic nerve glioma?
Neurofibromatosis type I
A 57-year-old woman has bilateral muscle weakness and elevated serum creatine kinase. What is the most appropriate next step in diagnosis?
In a patient with increasing unresponsiveness after head trauma, dilated pupils, and ptosis, what is the most likely cause?
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What can patients present with after a blunt head injury?
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Epidural hematoma is classically associated with trauma to the middle meningeal artery.
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What are common symptoms of an epidural hematoma?
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What is the most appropriate next step in the diagnosis for a patient experiencing visual loss known as amaurosis fugax?
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Multiple sclerosis is more common than adrenal leukodystrophy.
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What is an appropriate treatment for an acute dystonia caused by antipsychotic medication?
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What does transverse myelitis refer to?
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What is the most likely diagnosis for a 32-year-old woman with progressive sensory loss and urinary urgency?
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Multiple sclerosis may present with ______ myelitis.
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What criteria are used to diagnose multiple sclerosis?
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Which symptoms are associated with multiple sclerosis?
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Match the following conditions to their description:
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What is the most appropriate pharmacotherapy for the 11-year-old girl diagnosed with Guillain-Barre syndrome?
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What is the most likely cause of paresthesias of the feet and decreased sensation in the ankles in the 42-year-old woman with tuberculosis?
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What is the most appropriate recommendation for the college student after a head injury?
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What is the most likely diagnosis for a 19-year-old woman with seizure activity after increased water intake?
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What are common early symptoms of a concussion?
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What is the treatment for ethylene glycol poisoning?
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Which condition is indicated by a serum sodium level of 114 mEq/L?
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What is the correct approach for a patient with improving symptoms after a concussion?
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Which of the following is a characteristic symptom of ecstasy intoxication?
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What are oxalate crystals indicative of in urine analysis?
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What condition is more likely due to ethylene glycol ingestion?
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What is a toxic metabolite formed from methanol metabolism?
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Salicylate toxicity can cause which of the following symptoms?
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Organophosphate poisoning increases the concentration of acetylcholine by inhibiting acetylcholinesterase.
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What is the management for severe ethylene glycol poisoning?
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What substance is a common cause of metabolic acidosis, crystals on urinalysis, and acute kidney injury?
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What are the metabolic byproducts of ethylene glycol?
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Study Notes
Uncal Herniation
- A 27-year-old man presents with multiple trauma sustained in a motor vehicle collision.
- The patient is initially arousable but becomes increasingly unresponsive.
- The pupil of the left eye is dilated, and there is ptosis of the left eyelid. He also begins to hyperventilate.
- The patient is experiencing uncal herniation due to an epidural hematoma.
- Epidural hematoma is a collection of blood between the dura mater and the skull.
- This type of hematoma can occur after trauma to the middle meningeal artery, especially when patients suffer blunt head injuries.
- The epidural hematoma presents on CT as a lens-shaped, biconvex hyperdense collection abutting the skull.
- They often compress the adjacent brain and are bound by dural sutures.
- Common symptoms include initial lucid interval followed by gradual deterioration of mental status, headache, vomiting, confusion, seizures, and coma.
- The epidural hematoma can increase intracranial pressure and lead to midline shift and uncal herniation.
- Uncal herniation involves the uncus (the medial temporal lobe) compressing the midbrain.
- This usually affects the oculomotor nerve (cranial nerve III), leading to pupillary dilation, ptosis, and oculomotor nerve palsy.
- Patients with uncal herniation require emergent craniotomy and decompression of the epidural hematoma.
Other Possible Causes of Altered Mental Status
- Alcohol withdrawal presents with tremors, nausea, vomiting, anxiety, and tongue fasciculations.
- Delirium tremens is a life-threatening complication of alcohol withdrawal and presents with severe confusion, agitation, visual hallucinations, and autonomic instability.
- Aseptic meningitis, bacterial meningitis, and viral meningitis typically present with fever, headache, and nuchal rigidity.
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Carbon monoxide (CO) poisoning occurs after inhaling CO. CO has a high affinity for hemoglobin, displacing oxygen from heme.
- Symptoms can include headache, loss of consciousness, dizziness, vomiting, and fatigue.
- Factitious disorder is a condition that involves intentionally faking or exaggerating symptoms.
- HIV encephalopathy can lead to a variety of neurological symptoms, including altered mental status, confusion, and dementia.
- Infratentorial lesion can affect the brainstem and cerebellum, leading to altered mental status, headache, vomiting, and cerebellar signs (e.g., ataxia, nystagmus).
- Myxedema (hypothyroidism) can lead to a variety of neurological symptoms, including fatigue, depression, and cognitive impairment.
- Salicylate intoxication (aspirin overdose) can lead to a variety of neurological symptoms, including tinnitus, headache, and confusion.
- Central herniation occurs when the brainstem is compressed by the herniation of the cerebrum. It is a medical emergency and can be fatal.
Epidural Hematoma
- Classically associated with blunt head trauma, specifically to the middle meningeal artery
- Often presents with an initial lucid interval followed by deterioration of mental status
- Caused by arterial bleeding and hematoma expansion
- Uncal herniation can occur as a result of epidural hematoma
Uncal Herniation
- Uncus compresses midbrain
- Often affects oculomotor nerve
- Results in pupillary dilation, ptosis, and oculomotor nerve palsy
- Causes inferior and lateral deviation of the pupil
Acute Dystonia
- Presents with involuntary muscle contractions
- Caused by an imbalance in the dopaminergic-cholinergic pathways of the basal ganglia
- Can occur in response to antipsychotics, anti-epileptic drugs, or antiemetics
- Common presentations include: torticollis, retrocollis, opisthotonos, and oculogyric crisis
- Treated with anticholinergic medications such as diphenhydramine or benztropine
Multiple Sclerosis (MS)
- The most prevalent immune-mediated demyelinating disease
- Can present with transverse myelitis
- Characterized by lesions separated in time and location
- Symptoms can include: sensory deficits, urinary urgency or incontinence, bowel incontinence, or sexual dysfunction
- MRI of the brain typically shows white matter hyperintensities
- Oligoclonal bands of immunoglobulins can be found in the cerebrospinal fluid
- Treatment includes corticosteroids and disease-modifying treatments
Multiple Sclerosis
- Most prevalent immune-mediated demyelinating disease
- May present with transverse myelitis
- Transverse myelitis causes inflammation across the spinal cord
- Presents with bilateral sensory, motor, or autonomic dysfunction
- Causes sensory deficits at a dermatomal level, known as sensory level
- Presents as a band-like sensation at the sensory level
- Autonomic symptoms include urinary urgency or incontinence, bowel incontinence, or sexual dysfunction
- Diagnosis based on demyelinating lesions separated in time and location
- Evidence based on subjective symptoms or imaging
- MRI shows hyperintensities in the periventricular region, cortex, subcortical region, cerebellum, or spine
- Oligoclonal bands in cerebrospinal fluid are not necessary for diagnosis
- Treatment includes corticosteroids for acute flares and long-term disease-modifying treatments (interferon or monoclonal antibodies)
Adrenal Leukodystrophy
- Rare X-linked peroxisomal disorder
- Results from accumulation of very long fatty acid chains in various tissues
- Presents as bilateral spastic paraparesis, sphincter dysfunction, neurogenic bladder, and sexual dysfunction
Cytomegalovirus (CMV) Polyradiculopathy
- Rare condition in immunocompromised patients
- Involves inflammation of multiple nerve roots
- Presents with a sensory level and hyperreflexia
Guillain-Barre Syndrome (GBS)
- Inflammatory demyelinating polyneuropathy
- Presents with acute-onset, symmetric, ascending muscle weakness with hyporeflexia
- Bulbar dysfunction and autonomic dysfunction may occur
Multiple Cerebral Infarcts
- May cause a combination of motor, sensory, and autonomic findings
- Presents with hyperreflexia and dysfunction of the oculomotor muscles
- A sensory level is more consistent with a spinal cord lesion
Amaurosis Fugax
- Brief episodes of transient unilateral vision loss
- Indicative of retinal ischemia from microembolization or inflammation of the ophthalmic artery
- Often precedes central retinal artery occlusion
- Emboli originate from carotid arteries and cardiac valves
- Evaluation includes carotid duplex ultrasonography and echocardiography
- Treatment can prevent central retinal arterial occlusion, which can cause irreversible blindness
Giant Cell Arteritis
- Presents with amaurosis fugax, thrombocytosis, and an increased erythrocyte sedimentation rate
- Other symptoms include fever, chills, weight loss, temporal headache and tenderness, or jaw claudication
Glaucoma
- Slowly progressive optic nerve damage due to increased intraocular pressure
- Presents with insidious vision loss, initially peripheral vision loss followed by slow encroachment upon central vision
Guillain-Barre Syndrome (GBS)
- Preceding infection (Campylobacter jejuni, influenza-like illnesses) leads to autoimmune cross-reactivity with the myelin of the nerve roots exiting the spinal cord
- Presents with acute symmetric muscle weakness with depressed or absent deep tendon reflexes
- Begins in the lower extremities and may rapidly ascend to involve upper extremities, bulbar muscles, or respiratory muscles
- Autonomic dysfunction (blood pressure fluctuations, cardiac irregularities) is common
- Sensory deficits and pain may occur
- Confirmed by increased cerebrospinal fluid protein with normal cell counts (albuminocytologic dissociation)
- Management includes respiratory support, plasma exchange, or intravenous immunoglobulin therapy
Guillain-Barre Syndrome
- Guillain-Barre syndrome is an autoimmune condition that affects the spinal nerve roots.
- The typical presentation includes acute-onset, symmetric, ascending muscle weakness, hyporeflexia, and autonomic dysfunction or sensory symptoms.
- Guillain-Barre syndrome can be diagnosed by lumbar puncture that shows increased cerebrospinal fluid protein with normal cell counts.
- Treatment consists of plasma exchange or intravenous immunoglobulin therapy.
Primary Tuberculosis
- Primary tuberculosis results from initial exposure to Mycobacterium tuberculosis.
- A Ghon focus (Ghon complex) and hilar lymphadenopathy are characteristic findings of primary tuberculosis.
- Symptoms of primary tuberculosis include subacute fevers, weight loss, night sweats, cough, and malaise.
- Active tuberculosis is treated with a combination of rifampin, isoniazid, pyrazinamide, and ethambutol.
Isoniazid and Vitamin B6 Deficiency
- Isoniazid can cause vitamin B6 deficiency as it binds vitamin B6 (pyridoxine) and leads to its early excretion and inactivation.
- Isoniazid also inhibits pyridoxine phosphokinase, an enzyme needed to activate vitamin B6.
- Vitamin B6 deficiency can lead to peripheral neuropathy, dermatitis, sideroblastic anemia, glossitis, and seizures.
- Patients taking isoniazid should be given pyridoxine supplementation to prevent deficiency.
Mild Traumatic Brain Injury (Concussion)
- Mild traumatic brain injury, also known as concussion, is a common result of head injuries.
- Symptoms of concussion include loss of consciousness, confusion, amnesia, headache, dizziness, nausea, or vomiting.
- Symptoms can develop within days of the injury and include mood disturbances, photophonophobia, trouble concentrating, or insomnia.
- Patients with concussion should undergo a neurologic examination and some may need neuroimaging.
- Patients with concussion should gradually return to their usual activities, starting with light aerobic exercise and culminating with contact sports after a week if symptoms are uncomplicated and improving.
Ecstasy (3,4-methylenedioxymethamphetamine)
- Ecstasy or "Molly" is a psychotherapeutic agent and drug of abuse that acts as a stimulant.
- The main effects of ecstasy are feelings of increased energy, euphoria, and disinhibition.
- Ecstasy can cause various side effects including agitation, bruxism (grinding teeth), diaphoresis, and blurry vision.
- Serious side effects of ecstasy include autonomic instability (hypertension, tachycardia, and hyperthermia) leading to cardiovascular toxicity and hyponatremia caused by increased water intake and anti-diuretic hormone secretion.
- Hyponatremia can lead to seizures, confusion, coma, or death, especially in young women.
- Treatment for ecstasy intoxication can include rapid administration of hypertonic saline for recurrent seizures, followed by gradual sodium correction and management of autonomic instability
Ecstasy (3,4-methylenedioxymethamphetamine)
- Ecstasy, also known as "Molly," is a psychotherapeutic agent and drug of abuse.
- It is a stimulant that causes feelings of increased energy, euphoria, and disinhibition.
- Minor side effects include agitation, teeth grinding, sweating, and blurred vision.
- Serious side effects can occur, such as autonomic instability (high blood pressure, rapid heart rate, and high body temperature), which can lead to life-threatening cardiovascular toxicity.
- Severe hyponatremia (low sodium levels) is another serious complication, often caused by increased water intake and secretion of anti-diuretic hormone.
- Severe hyponatremia can lead to seizures, confusion, coma, or death, particularly in young women.
- Treatment involves rapid administration of hypertonic saline for recurrent seizures, followed by gradual sodium correction and management of autonomic instability.
Ethylene Glycol Poisoning
- Ethylene glycol poisoning can present similarly to alcohol intoxication, causing disorientation and altered mental status.
- Ethylene glycol is metabolized by alcohol dehydrogenase to toxic metabolites like glycolate, glyoxylate, and oxalate.
- These metabolites damage kidney tubules and contribute to acute kidney injury.
- They cause oxalate crystal precipitation, leading to tubule obstruction.
- These metabolites contribute to an anion-gap metabolic acidosis.
- The presence of crystals in the urine is a key indicator of ethylene glycol poisoning.
- Treatment involves fomepizole, an alcohol dehydrogenase inhibitor that prevents the formation of toxic metabolites.
- In severe cases, hemodialysis may be necessary to remove ethylene glycol and its metabolites.
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