A 46-year-old male presents with his wife to his primary care provider for depression and strange movements. His wife reports that her husband has not been himself for the last two months. Whereas he was previously outgoing and “the life of the party,” the patient is now irritable and withdrawn. He is a partner at an accounting firm, but his colleagues are threatening his job if he continues to perform poorly at work. The patient cannot explain the recent changes to his mood and tearfully admits he fears there is something seriously wrong with him. His wife says that she thinks he is getting worse. The patient’s past medical history is significant for hypertension, for which he takes lisinopril. His family history is unknown as he was adopted. The patient met his mother once, and never knew his father but was told he died in his 50's. He drinks a few glasses of wine per week and has never smoked. On physical exam, the patient has a flat affect with facial grimace and sudden jerky movements of his upper extremities.
Which of the following is most likely to be seen on further workup?
Q102
A 27-year-old man presents to the emergency department with dizziness. He states he has experienced a sustained sensation of the room spinning that is low grade and constant since this morning. The patient occasionally feels nauseous and has been taking diphenydramine to sleep which helps with his symptoms. The patient is generally healthy, has no other medical conditions, and only endorses eating more garlic recently to get over a cold he had a few days ago. His temperature is 98.7°F (37.1°C), blood pressure is 122/81 mmHg, pulse is 82/min, respirations are 15/min, and oxygen saturation is 99% on room air. Physical exam is notable for a healthy man. The patient is sat upright, his head is turned slightly to the right, and he is laid back flat rapidly. This does not provoke any symptoms even when repeated on the left side. A nystagmus is notable on cranial nerve exam as well as bilateral decreased hearing. The patient’s tandem gait is unstable; however, his baseline gait appears unremarkable despite the patient stating he has a sustained sensation of imbalance. Which of the following is the most likely diagnosis?
Q103
A 44-year-old woman comes to her primary care physician with complaints of irritation and a gritty sensation in her eyes for the past few months. She denies any discharge from her eyes. She has no significant past medical or surgical history. She takes multivitamins occasionally but denies use of any other medication. On further questioning, she expresses her concerns about frequent dental caries for the past 2 years. On examination, her temperature is 37.1°C (98.8°F), blood pressure is 110/80 mm Hg, pulse rate is 74/min, and respiratory rate is 16/min. Which of the following is the most likely cause of her symptoms?
Q104
A 75-year-old man presents to the physician with progressive difficulty reading over the past year. Currently, he avoids driving as he has trouble reading road signs. He has no history of a serious illness and takes no medications. The fundoscopic examination shows localized retinal elevation and drusen. A description of the patient’s visual on the Amsler grid is shown. Fluorescein angiography shows early hyperfluorescence. Which of the following is the most likely diagnosis in this patient?
Q105
A 47-year-old man presents to the clinic for an evaluation of intense itching of his right thigh region for the past few days. He states some ‘red bumps’ just began to form. The patient mentions that he was recently at a business conference in Miami. He has a past medical history of hypertension, diabetes type 2, and hyperlipidemia. He takes enalapril, metformin, and atorvastatin. He does not smoke or drink. His vitals are within normal limits today. On physical examination, a linear line with 3 red papules is present along the medial aspect of his right thigh. Additionally, there are small rows of bumps on his left leg and right forearm. Excoriations are also apparent in the same region. Which of the following is the most likely diagnosis?
Q106
A 25-year-old woman with a history of polycystic ovarian syndrome, depression, and chronic bilateral ear infections presents to the otolaryngologist's clinic 12 weeks after right ear tympanoplasty. Her audiology report one week prior showed that her hearing improved as expected by 20 decibels. However, she reports that she has occasional shooting pain with eating and when she wears earrings. She states that she has a stressful job as a cashier at the local department store and often sleeps poorly. She denies any neck pain or tenderness when she washes her face. On physical exam, no tenderness is elicited with preauricular or mandibular palpation bilaterally. No jaw clicking is heard. Right postauricular tapping causes tenderness in her right tonsillar area. Her molar teeth appear even and symmetric bilaterally. Her uvula is midline and her gag reflex is intact. What is the most likely diagnosis?
Q107
A 69-year-old man presents to his primary care physician for pain when he walks. He states that the pain is the worst in his left great toe but is also present in his hips and knees. He says that his symptoms are worse with activity and tend to improve with rest. His symptoms have progressively worsened over the past several years. He has a past medical history of obesity, type II diabetes mellitus, smoking, and hypertension. He drinks roughly ten beers per day. His current medications include metformin, insulin, lisinopril, and hydrochlorothiazide. The patient has a recent travel history to Bangkok where he admits to having unprotected sex. On physical exam, examination of the lower extremity results in pain. There is crepitus of the patient's hip when his thigh is flexed and extended. Which of the following is the most likely diagnosis?
Q108
A 25-year-old male patient presents to your clinic in significant distress. He states he has excruciating, stabbing pain around the left side of his head, and his left eye will not stop tearing. These types of headaches have been occurring for the past week every morning when he awakens and last around 60 minutes. He denies any aura, nausea, or vomiting. He denies any other past medical history. What is this patient's diagnosis?
Q109
A 16-year-old boy is brought to the physician for a follow-up appointment. He has a seizure disorder treated with valproic acid. He has always had difficulties with his schoolwork. He was able to walk independently at the age of 2 years and was able to use a fork and spoon at the age of 3 years. Ophthalmic examination shows hyperpigmented iris nodules bilaterally. A photograph of his skin examination findings is shown. This patient is at increased risk for which of the following conditions?
Q110
A 30-year-old woman comes to the physician because of a swelling on her neck for 5 months. It has gradually enlarged in size and is mildly painful. She has also had intermittent episodes of throbbing headache, sweating, and palpitations over the past 3 months. Menses occur at regular 28-day intervals and last for 4–5 days. She does not smoke, occasionally consumes alcohol on weekends. She appears thin and pale. Her temperature is 38.7°C (101.7°F), pulse is 112/min, and blood pressure is 140/90 mm Hg. Examination shows a firm, 3-cm swelling on the neck that moves with swallowing; there is no lymphadenopathy. Cardiopulmonary examination shows no abnormalities. Laboratory studies show:
Hemoglobin 13 g/dL
Leukocyte count 9500/mm3
Platelet count 230,000/mm3
Serum
Na+ 136 mEq/L
K+ 3.5 mEq/L
Cl- 104 mEq/L
TSH 2.3 μU/mL
Calcitonin 300 ng/dL (Normal < 5 ng/dL)
An electrocardiogram shows sinus tachycardia. Which of the following laboratory abnormalities is most likely to be seen?
Differential diagnosis US Medical PG Practice Questions and MCQs
Question 101: A 46-year-old male presents with his wife to his primary care provider for depression and strange movements. His wife reports that her husband has not been himself for the last two months. Whereas he was previously outgoing and “the life of the party,” the patient is now irritable and withdrawn. He is a partner at an accounting firm, but his colleagues are threatening his job if he continues to perform poorly at work. The patient cannot explain the recent changes to his mood and tearfully admits he fears there is something seriously wrong with him. His wife says that she thinks he is getting worse. The patient’s past medical history is significant for hypertension, for which he takes lisinopril. His family history is unknown as he was adopted. The patient met his mother once, and never knew his father but was told he died in his 50's. He drinks a few glasses of wine per week and has never smoked. On physical exam, the patient has a flat affect with facial grimace and sudden jerky movements of his upper extremities.
Which of the following is most likely to be seen on further workup?
A. Alpha-synuclein aggregates on brain biopsy
B. Dorsal striatum atrophy on head CT (Correct Answer)
C. Positive 14-3-3 CSF assay
D. Neurofibrillary tangles on brain biopsy
E. Frontotemporal atrophy on head CT
Explanation: ***Dorsal striatum atrophy on head CT***
- The clinical presentation of **involuntary jerky movements (chorea)**, **psychiatric changes (depression, irritability, flat affect)**, and **cognitive decline (poor work performance)** in a relatively young patient with a family history suggestive of premature death points to **Huntington's disease**.
- **Huntington's disease** is characterized by preferential **atrophy of the caudate and putamen** (components of the dorsal striatum), which can be visualized on CT or MRI of the head.
*Alpha-synuclein aggregates on brain biopsy*
- **Alpha-synuclein aggregates** are characteristic of **Lewy body diseases**, such as **Parkinson's disease** and **dementia with Lewy bodies (DLB)**.
- While patients with these conditions can have cognitive and psychiatric symptoms, the prominent **chorea** described is not typical.
*Positive 14-3-3 CSF assay*
- A **positive 14-3-3 protein assay in CSF** is a marker for **Creutzfeldt-Jakob disease (CJD)**, a rapidly progressive prion disease.
- CJD typically presents with **rapidly progressive dementia, myoclonus**, and cerebellar dysfunction, which differs from the gradual onset of chorea and mood changes seen here.
*Neurofibrillary tangles on brain biopsy*
- **Neurofibrillary tangles**, composed of hyperphosphorylated tau protein, are a hallmark pathological feature of **Alzheimer's disease**.
- **Alzheimer's disease** is primarily characterized by progressive memory loss and other cognitive deficits, but typically does not present with prominent chorea as the initial motor symptom.
*Frontotemporal atrophy on head CT*
- **Frontotemporal atrophy** is characteristic of **frontotemporal dementia (FTD)**, which can present with behavioral changes, personality alterations, and language difficulties.
- While FTD can cause psychiatric symptoms, the presence of prominent **chorea** makes Huntington's disease a more likely diagnosis.
Question 102: A 27-year-old man presents to the emergency department with dizziness. He states he has experienced a sustained sensation of the room spinning that is low grade and constant since this morning. The patient occasionally feels nauseous and has been taking diphenydramine to sleep which helps with his symptoms. The patient is generally healthy, has no other medical conditions, and only endorses eating more garlic recently to get over a cold he had a few days ago. His temperature is 98.7°F (37.1°C), blood pressure is 122/81 mmHg, pulse is 82/min, respirations are 15/min, and oxygen saturation is 99% on room air. Physical exam is notable for a healthy man. The patient is sat upright, his head is turned slightly to the right, and he is laid back flat rapidly. This does not provoke any symptoms even when repeated on the left side. A nystagmus is notable on cranial nerve exam as well as bilateral decreased hearing. The patient’s tandem gait is unstable; however, his baseline gait appears unremarkable despite the patient stating he has a sustained sensation of imbalance. Which of the following is the most likely diagnosis?
A. Labyrinthitis (Correct Answer)
B. Vertebrobasilar stroke
C. Vestibular neuritis
D. Meniere disease
E. Benign paroxysmal positional vertigo
Explanation: ***Labyrinthitis***
- The patient presents with **vertigo, nystagmus, and bilateral decreased hearing** following a recent cold, which is highly suggestive of **labyrinthitis**.
- **Labyrinthitis** is typically caused by a viral infection of the inner ear, affecting both the **vestibular and cochlear functions**.
*Vertebrobasilar stroke*
- While a **vertebrobasilar stroke** can cause dizziness and nystagmus, it would typically present with **focal neurological deficits** such as ataxia, dysarthria, or diplopia, which are absent here.
- The patient's otherwise healthy status and the history of a recent infection make a stroke less likely in this young individual.
*Vestibular neuritis*
- **Vestibular neuritis** presents with sudden, severe vertigo and nystagmus, but it **does not involve hearing loss**, unlike labyrinthitis.
- The patient's complaint of **bilateral decreased hearing** rules out isolated vestibular neuritis.
*Meniere disease*
- **Meniere disease** is characterized by recurrent episodes of vertigo, fluctuating sensorineural hearing loss, tinnitus, and aural fullness.
- The patient's symptoms are described as a **sustained, constant sensation of spinning** and not episodic, making Meniere disease less likely.
*Benign paroxysmal positional vertigo*
- **BPPV** causes brief episodes of vertigo triggered by specific head movements, and it is usually diagnosed with a **positive Dix-Hallpike test**.
- The patient's symptoms are **constant and sustained**, and the **Dix-Hallpike maneuver did not provoke symptoms**, ruling out BPPV.
Question 103: A 44-year-old woman comes to her primary care physician with complaints of irritation and a gritty sensation in her eyes for the past few months. She denies any discharge from her eyes. She has no significant past medical or surgical history. She takes multivitamins occasionally but denies use of any other medication. On further questioning, she expresses her concerns about frequent dental caries for the past 2 years. On examination, her temperature is 37.1°C (98.8°F), blood pressure is 110/80 mm Hg, pulse rate is 74/min, and respiratory rate is 16/min. Which of the following is the most likely cause of her symptoms?
A. Sjögren's syndrome (Correct Answer)
B. Fibromyalgia
C. Rheumatoid arthritis
D. Systemic lupus erythematosus (SLE)
E. Scleroderma
Explanation: ***Sjögren's syndrome***
- The patient's complaints of **irritation and gritty sensation in her eyes** (suggesting **dry eyes**), along with **frequent dental caries** (suggesting **dry mouth**), are classic symptoms of **Sjögren's syndrome**, an autoimmune disorder characterized by destruction of exocrine glands.
- The absence of ocular discharge further supports dry eyes rather than infection or allergy.
*Fibromyalgia*
- **Fibromyalgia** is characterized by widespread **musculoskeletal pain**, fatigue, and sleep disturbances.
- It does not explain the specific symptoms of dry eyes and increased dental caries due to xerostomia.
*Rheumatoid arthritis*
- **Rheumatoid arthritis** primarily involves chronic **symmetrical polyarthritis**, particularly affecting small joints.
- While it can be associated with secondary Sjögren's, the primary symptoms presented here are not joint-related.
*Systemic lupus erythematosus (SLE)*
- **SLE** is a systemic autoimmune disease with diverse manifestations, including joint pain, skin rashes, and kidney involvement.
- While **dry eyes** can occur, **dental caries** due to dry mouth are not a primary diagnostic feature of SLE, and other SLE-specific symptoms are absent.
*Scleroderma*
- **Scleroderma** is characterized by **skin thickening** and fibrosis affecting various organs.
- Symptoms like dry eyes and dental caries are not typical presenting features; instead, patients often experience **Raynaud's phenomenon**, dysphagia, and skin changes.
Question 104: A 75-year-old man presents to the physician with progressive difficulty reading over the past year. Currently, he avoids driving as he has trouble reading road signs. He has no history of a serious illness and takes no medications. The fundoscopic examination shows localized retinal elevation and drusen. A description of the patient’s visual on the Amsler grid is shown. Fluorescein angiography shows early hyperfluorescence. Which of the following is the most likely diagnosis in this patient?
A. Open-angle glaucoma
B. Choroidal melanoma
C. Macular degeneration (Correct Answer)
D. Retinal detachment
E. Central retinal artery occlusion
Explanation: ***Macular degeneration***
- Progressive difficulty reading and trouble reading road signs, especially with **drusen** and **localized retinal elevation**, are classic symptoms of **macular degeneration**.
- The **Amsler grid distortion** and **early hyperfluorescence** on fluorescein angiography further indicate choroidal neovascularization, characteristic of the **wet form** of macular degeneration.
*Open-angle glaucoma*
- This condition is characterized by progressive **peripheral vision loss** and **optic nerve cupping**, which is not described.
- Patients typically do not experience sudden blurring or distortion of central vision, which is a hallmark of macular issues.
*Choroidal melanoma*
- While it can cause visual changes, a choroidal melanoma typically presents as a **pigmented mass** and would be visible on fundoscopy; drusen and retinal elevation are not primary features.
- Fluorescein angiography would show a **double circulation pattern**, which is distinct from the hyperfluorescence seen in this case.
*Retinal detachment*
- Retinal detachment often presents with a sudden onset of **flashes of light**, **floaters**, and a **"curtain" or "veil" vision loss**, none of which are reported here.
- Fundoscopic examination would reveal a detached retina, not drusen or localized elevation alone.
*Central retinal artery occlusion*
- This condition presents with **sudden, painless, severe vision loss** in one eye, and fundoscopy often shows a **"cherry-red spot"** in the macula and **pale retina**.
- The patient's symptoms of progressive difficulty and the presence of drusen are inconsistent with an acute arterial occlusion.
Question 105: A 47-year-old man presents to the clinic for an evaluation of intense itching of his right thigh region for the past few days. He states some ‘red bumps’ just began to form. The patient mentions that he was recently at a business conference in Miami. He has a past medical history of hypertension, diabetes type 2, and hyperlipidemia. He takes enalapril, metformin, and atorvastatin. He does not smoke or drink. His vitals are within normal limits today. On physical examination, a linear line with 3 red papules is present along the medial aspect of his right thigh. Additionally, there are small rows of bumps on his left leg and right forearm. Excoriations are also apparent in the same region. Which of the following is the most likely diagnosis?
A. Scabies
B. Bed bug bite (Correct Answer)
C. Cutaneous larva migrans
D. Flea bite
E. Spider bite
Explanation: ***Bed bug bite***
- The presence of **linear lesions** (often described as "breakfast, lunch, and dinner") and **rows of bumps** on exposed skin, especially after recent travel, is highly characteristic of **bed bug bites**.
- **Intense itching** and **red papules** appearing a few days after exposure further support this diagnosis.
*Scabies*
- While scabies also causes intense itching and red papules, it typically presents with **serpiginous burrows** in characteristic locations such as the finger webs, wrists, and axillae.
- Scabies is also more often associated with generalized pruritus rather than localized linear lesions from recent exposure.
*Cutaneous larva migrans*
- This condition is caused by hookworm larvae and presents with a **highly pruritic, intensely erythematous, raised, serpiginous tract** that migrates over time.
- The described lesions are more consistent with bites in a linear pattern rather than a migratory burrow.
*Flea bite*
- Flea bites often appear as **small, red, itchy bumps** usually clustered around ankles or areas covered by tight clothing.
- While itchy, they typically do not form the distinct linear "breakfast, lunch, and dinner" pattern seen with bed bugs.
*Spider bite*
- Most spider bites present as a **single lesion**, often with a central puncture mark, and can range from mild local reactions to necrotic lesions, depending on the spider.
- Bites from multiple spiders or multiple bites in a linear pattern are highly unusual and do not fit the description of lesions in rows.
Question 106: A 25-year-old woman with a history of polycystic ovarian syndrome, depression, and chronic bilateral ear infections presents to the otolaryngologist's clinic 12 weeks after right ear tympanoplasty. Her audiology report one week prior showed that her hearing improved as expected by 20 decibels. However, she reports that she has occasional shooting pain with eating and when she wears earrings. She states that she has a stressful job as a cashier at the local department store and often sleeps poorly. She denies any neck pain or tenderness when she washes her face. On physical exam, no tenderness is elicited with preauricular or mandibular palpation bilaterally. No jaw clicking is heard. Right postauricular tapping causes tenderness in her right tonsillar area. Her molar teeth appear even and symmetric bilaterally. Her uvula is midline and her gag reflex is intact. What is the most likely diagnosis?
A. Cluster headache
B. Atypical migraine
C. Bruxism
D. Trigeminal neuralgia
E. Glossopharyngeal neuralgia (Correct Answer)
Explanation: ***Glossopharyngeal neuralgia***
- The description of **shooting pain with eating** and **referred tenderness to the tonsillar area** upon postauricular tapping (which can stimulate the glossopharyngeal nerve or C2/C3 dermatomes) strongly suggests glossopharyngeal neuralgia.
- This condition is characterized by **brief, severe attacks of pain** in the ear, tonsil, posterior tongue, or pharynx, often triggered by swallowing, chewing, or touching the ear.
*Cluster headache*
- Cluster headaches present with **severe, unilateral pain around the eye or temple**, accompanied by autonomic symptoms like **lacrimation, rhinorrhea, ptosis, or miosis**.
- They are typically **short-lived but recurrent** and do not involve shooting pain in the tonsillar area or trigger factors like eating or wearing earrings.
*Atypical migraine*
- Atypical migraines encompass a wide range of headache presentations, but generally involve **pulsatile pain**, often with **photophobia, phonophobia, or nausea**.
- While migraines can be severe, the specific triggers of eating and wearing earrings, and the referred tonsillar pain, are not typical features.
*Bruxism*
- Bruxism involves **involuntary grinding or clenching of teeth**, typically during sleep, leading to **jaw pain, headaches**, and **tooth wear**.
- The absence of jaw clicking or tenderness on palpation of the temporomandibular joint (TMJ) and masticatory muscles makes bruxism less likely.
*Trigeminal neuralgia*
- Trigeminal neuralgia causes **sudden, severe, shock-like pain** in areas supplied by the **trigeminal nerve**, often triggered by light touch, chewing, or talking.
- While it can involve the ear area (V3 distribution), the characteristic **referred pain to the tonsillar area** and specific triggers point more towards glossopharyngeal neuralgia.
Question 107: A 69-year-old man presents to his primary care physician for pain when he walks. He states that the pain is the worst in his left great toe but is also present in his hips and knees. He says that his symptoms are worse with activity and tend to improve with rest. His symptoms have progressively worsened over the past several years. He has a past medical history of obesity, type II diabetes mellitus, smoking, and hypertension. He drinks roughly ten beers per day. His current medications include metformin, insulin, lisinopril, and hydrochlorothiazide. The patient has a recent travel history to Bangkok where he admits to having unprotected sex. On physical exam, examination of the lower extremity results in pain. There is crepitus of the patient's hip when his thigh is flexed and extended. Which of the following is the most likely diagnosis?
A. Pseudogout
B. Gout
C. Rheumatoid arthritis
D. Infectious arthritis
E. Osteoarthritis (Correct Answer)
Explanation: ***Osteoarthritis***
- The patient presents with classic features of **osteoarthritis (OA)**: **progressive worsening over several years**, pain that is **worse with activity and improves with rest** (mechanical pain pattern), and **crepitus of the hip** on examination.
- **Crepitus** is a hallmark physical finding in OA, indicating cartilage degradation and bone-on-bone contact.
- The patient has major risk factors including **age (69 years)**, **obesity**, and involvement of **weight-bearing joints** (hips and knees).
- While the great toe is also affected, polyarticular OA commonly involves multiple joints including the first metatarsophalangeal joint.
*Gout*
- Although the patient has risk factors for gout (**alcohol consumption** and **thiazide diuretic use**), gout typically presents with **acute, severe attacks** of monoarticular arthritis, not chronic progressive pain over several years.
- Acute gout would present with sudden onset of severe pain, erythema, warmth, and swelling, which are not described in this case.
- The **mechanical pain pattern** (worse with activity, better with rest) and **crepitus** are inconsistent with gout.
*Pseudogout*
- Pseudogout (calcium pyrophosphate deposition disease) typically causes **acute attacks** affecting larger joints like the knees, similar to gout.
- The **chronic progressive nature** of this patient's symptoms over several years, along with crepitus, is not consistent with pseudogout.
- Pseudogout does not explain the mechanical pain pattern or the hip crepitus.
*Infectious arthritis*
- While the patient's recent travel and unprotected sex raise concern for sexually transmitted infections, **septic arthritis** would present with **acute onset**, severe pain, fever, warmth, erythema, and systemic signs of infection.
- The **chronic progressive course over several years** is completely inconsistent with infectious arthritis.
- Gonococcal arthritis can cause migratory polyarthritis but would be acute, not chronic.
*Rheumatoid arthritis*
- Rheumatoid arthritis typically presents with **symmetric polyarthritis** affecting small joints of the hands and feet, with **prolonged morning stiffness** (>30-60 minutes).
- The pain pattern in RA is **inflammatory** (worse with rest, improves with activity), which is the **opposite** of this patient's presentation.
- **Crepitus** and mechanical pain pattern point to a degenerative process (OA), not an inflammatory arthropathy like RA.
Question 108: A 25-year-old male patient presents to your clinic in significant distress. He states he has excruciating, stabbing pain around the left side of his head, and his left eye will not stop tearing. These types of headaches have been occurring for the past week every morning when he awakens and last around 60 minutes. He denies any aura, nausea, or vomiting. He denies any other past medical history. What is this patient's diagnosis?
A. Cluster headache (Correct Answer)
B. Trigeminal neuralgia
C. Migraine headache
D. Short-lasting unilateral neuralgiform headaches with conjunctival injection and tearing (SUNCT) syndrome
E. Chronic paroxysmal hemicrania (CPH)
Explanation: ***Cluster headache***
- This patient's symptoms are classic for a cluster headache: **excruciating unilateral pain** around the orbit, **lacrimation** (tearing), and a **circadian rhythm** (occurring at a similar time each day, often upon awakening).
- The **brief duration** (60 minutes) and the absence of aura, nausea, or vomiting further support this diagnosis.
*Trigeminal neuralgia*
- Characterized by **sudden, severe, electric shock-like facial pain** along the distribution of the trigeminal nerve, often triggered by touch or movement.
- While the pain is severe and unilateral, it typically involves the face and not specifically orbital tearing, and the duration is usually seconds to minutes, not an hour.
*Migraine headache*
- Migraines are typically associated with **pulsating pain**, often unilateral, and accompanied by **nausea, vomiting, photophobia, and phonophobia**.
- Although unilateral, the described tearing, stabbing pain, and short duration without associated symptoms like nausea or vomiting make migraine less likely.
*Short-lasting unilateral neuralgiform headaches with conjunctival injection and tearing (SUNCT) syndrome*
- SUNCT is characterized by **very frequent (up to 200 times a day), short-duration (5-240 seconds) jabs of unilateral pain** with prominent autonomic features like conjunctival injection and tearing.
- The duration of the attacks (60 minutes) in this patient is too long for SUNCT syndrome.
*Chronic paroxysmal hemicrania (CPH)*
- CPH involves **frequent (5-40 per day), moderate to severe unilateral pain attacks** lasting 2-45 minutes, associated with autonomic symptoms.
- A key differentiating feature is its **absolute responsiveness to indomethacin**, and while similar to cluster, the attacks are typically shorter and more frequent than described here.
Question 109: A 16-year-old boy is brought to the physician for a follow-up appointment. He has a seizure disorder treated with valproic acid. He has always had difficulties with his schoolwork. He was able to walk independently at the age of 2 years and was able to use a fork and spoon at the age of 3 years. Ophthalmic examination shows hyperpigmented iris nodules bilaterally. A photograph of his skin examination findings is shown. This patient is at increased risk for which of the following conditions?
A. Hemangioblastoma
B. Cardiac rhabdomyoma
C. Leptomeningeal angioma
D. Vestibular schwannoma
E. Pheochromocytoma (Correct Answer)
Explanation: ***Pheochromocytoma***
- The presence of café-au-lait spots, axillary freckling, neurofibromas (the image depicts a probable neurofibroma), developmental delay, and a seizure disorder are classic features pointing to Neurofibromatosis Type 1 (NF1). NF1 is associated with a significantly increased risk of developing pheochromocytomas.
- Pheochromocytomas are tumors of the adrenal medulla that secrete catecholamines and are a recognized complication of NF1, occurring in about 0.1-5.7% of patients.
*Hemangioblastoma*
- Hemangioblastomas are characteristic tumors of von Hippel-Lindau disease, not NF1.
- Von Hippel-Lindau disease is typically associated with retinal angiomas, cerebellar hemangioblastomas, renal cell carcinoma, and pancreatic neuroendocrine tumors.
*Cardiac rhabdomyoma*
- Cardiac rhabdomyomas are the most common cardiac tumor in infants and children and are almost exclusively associated with Tuberous Sclerosis Complex (TSC).
- TSC is characterized by facial angiofibromas, ungual fibromas, ash-leaf spots, shagreen patches, and subependymal giant cell astrocytomas.
*Leptomeningeal angioma*
- Leptomeningeal angiomas are the hallmark of Sturge-Weber syndrome, which presents with a facial port-wine stain, glaucoma, and neurological manifestations like seizures and intellectual disability.
- The features presented in the case, particularly the café-au-lait spots and neurofibroma, are not consistent with Sturge-Weber syndrome.
*Vestibular schwannoma*
- Vestibular schwannomas (acoustic neuromas) are characteristic tumors of Neurofibromatosis Type 2 (NF2), especially bilateral vestibular schwannomas.
- NF2 is less common than NF1 and is primarily associated with bilateral vestibular schwannomas, meningiomas, gliomas, and cataracts. The skin findings (café-au-lait spots, neurofibromas) are more typical of NF1.
Question 110: A 30-year-old woman comes to the physician because of a swelling on her neck for 5 months. It has gradually enlarged in size and is mildly painful. She has also had intermittent episodes of throbbing headache, sweating, and palpitations over the past 3 months. Menses occur at regular 28-day intervals and last for 4–5 days. She does not smoke, occasionally consumes alcohol on weekends. She appears thin and pale. Her temperature is 38.7°C (101.7°F), pulse is 112/min, and blood pressure is 140/90 mm Hg. Examination shows a firm, 3-cm swelling on the neck that moves with swallowing; there is no lymphadenopathy. Cardiopulmonary examination shows no abnormalities. Laboratory studies show:
Hemoglobin 13 g/dL
Leukocyte count 9500/mm3
Platelet count 230,000/mm3
Serum
Na+ 136 mEq/L
K+ 3.5 mEq/L
Cl- 104 mEq/L
TSH 2.3 μU/mL
Calcitonin 300 ng/dL (Normal < 5 ng/dL)
An electrocardiogram shows sinus tachycardia. Which of the following laboratory abnormalities is most likely to be seen?
A. Increased serum gastrin
B. Increased serum cortisol
C. Increased serum T3 levels
D. Increased urinary 5-HIAA
E. Increased plasma metanephrines (Correct Answer)
Explanation: ***Increased plasma metanephrines***
- The patient's symptoms of **throbbing headache, sweating, and palpitations**, along with **hypertension and tachycardia**, are highly suggestive of a **pheochromocytoma**.
- **Plasma metanephrines** (metanephrine and normetanephrine) are metabolites of catecholamines and are the most sensitive and specific biochemical tests for diagnosing pheochromocytoma.
*Increased serum gastrin*
- **Increased serum gastrin** is associated with **Zollinger-Ellison syndrome**, which causes severe peptic ulcer disease and diarrhea. These symptoms are not present in this patient.
- While neuroendocrine tumors can produce gastrin, the patient's primary symptoms point to catecholamine excess.
*Increased serum cortisol*
- **Increased serum cortisol** is characteristic of **Cushing's syndrome**, which presents with central obesity, moon facies, buffalo hump, and striae, none of which are described.
- The patient's thin appearance and other symptoms are inconsistent with hypercortisolism.
*Increased serum T3 levels*
- **Increased serum T3 levels** indicate hyperthyroidism, which could explain tachycardia and weight loss, but the **TSH is normal** (2.3 μU/mL).
- The elevated calcitonin and the specific paroxysmal symptoms like throbbing headaches and sweating are not typical for hyperthyroidism.
*Increased urinary 5-HIAA*
- **Increased urinary 5-HIAA** (5-hydroxyindoleacetic acid) is a marker for **carcinoid syndrome**, which typically presents with flushing, diarrhea, bronchospasm, and valvular heart disease.
- These symptoms are not consistent with the patient's presentation, and the elevated calcitonin points to a different neuroendocrine origin.