Clinical Diagnosis Test — Questions and Answers

Question 1: A 6-month-old boy is brought to the physician because of left knee swelling for 24 hours. Three months ago, he had three large hematomas on his forehead that resolved without treatment. His two sisters and his mother have no history of similar symptoms. His mother’s maternal uncle and her brother died before the age of 30 years of massive cerebral hemorrhages. Physical examination shows deep ecchymoses over the buttocks and severe swelling of the left knee. The most likely explanation for these findings is a deficiency of which of the following?

Factor I (fibrinogen)
Factor V (proaccelerin)
Factor VIII (antihemophilic factor) (Correct answer)
Factor XIII (transglutaminase)
von Willebrand factor

Correct answer: Factor VIII (antihemophilic factor)

The correct answer is Factor VIII (antihemophilic factor). The patient's symptoms, including deep ecchymoses, severe knee swelling (hemarthrosis), and forehead hematomas, are classic signs of a severe bleeding disorder. The family history, with affected males (maternal uncle, brother) dying of cerebral hemorrhages, strongly suggests an X-linked recessive inheritance pattern. Factor VIII deficiency (Hemophilia A) is the most common X-linked recessive bleeding disorder, characterized by spontaneous bleeding into joints and deep tissues. Other options represent different bleeding disorders with distinct inheritance patterns or clinical presentations.

Question 2: A 56-year-old man has had a small, slowly growing nodule on his chin during the past 3 years. The lesion is 1.3 cm in diameter, the center is ulcerated, and the border is waxy. Examination of tissue obtained on excision of the lesion is most likely to show which of the following?

Actinic keratosis
Basal cell carcinoma (Correct answer)
Melanoma
Seborrheic keratosis
Squamous cell carcinoma

Correct answer: Basal cell carcinoma

The correct answer is Basal cell carcinoma. The description of a 'small, slowly growing nodule on his chin during the past 3 years' with a 'center is ulcerated, and the border is waxy' is highly characteristic of a basal cell carcinoma (BCC). BCCs are common on sun-exposed areas and often present as pearly or waxy nodules with rolled borders and central ulceration. Other options like actinic keratosis, melanoma, seborrheic keratosis, and squamous cell carcinoma have different typical presentations or growth patterns.

Question 3: A 23-year-old woman comes to the physician because of a 5-month history of intermittent discharge from both breasts. Her last menstrual period was 6 months ago. She takes no medications and is otherwise healthy. She has never been sexually active. Physical examination shows scant white fluid expressible from the breasts bilaterally. Serum studies are most likely to show an increase in which of the following hormone concentrations?

Estradiol
Follicle-stimulating hormone
Luteinizing hormone
Progesterone
Prolactin (Correct answer)
Testosterone

Correct answer: Prolactin

The correct answer is Prolactin. The patient's symptoms of intermittent bilateral breast discharge (galactorrhea) and amenorrhea (no menstrual period for 6 months) are classic signs of hyperprolactinemia. Elevated prolactin levels inhibit gonadotropin-releasing hormone (GnRH), leading to decreased LH and FSH, which in turn causes anovulation and amenorrhea. Therefore, an increase in prolactin concentration is the most likely hormonal finding. Other hormones listed are typically decreased or not directly responsible for this specific constellation of symptoms.

Question 4: A 39-year-old man has the acute onset of pain, corneal clouding, and diffuse redness in the left eye. There is no discharge. Vision is 20\/20 in the right eye and 20\/100 in the left eye. The left pupil is dilated. Which of the following is the most likely cause of these findings?

Acute hordeolum
Bacterial conjunctivitis
Corneal abrasion
Subconjunctival hemorrhage
Acute glaucoma (Correct answer)

Correct answer: Acute glaucoma

The correct answer is Acute glaucoma. The acute onset of severe pain, corneal clouding, diffuse redness, vision loss, and a dilated pupil in one eye are hallmark symptoms of acute angle-closure glaucoma. This condition involves a sudden increase in intraocular pressure, leading to corneal edema (clouding) and optic nerve damage. Other options like hordeolum, conjunctivitis, corneal abrasion, or subconjunctival hemorrhage present with different symptom profiles and typically do not involve corneal clouding, vision loss, or a dilated pupil in this acute manner.

Question 5: A 65-year-old woman comes to the physician because of a 2-day history of a high temperature, chills, and headache. She was diagnosed with multiple myeloma 6 months ago. Her temperature is 39°C (102.2°F), pulse is 90\/min, and blood pressure is 150\/80 mm Hg. Examination shows lethargy and severe neck rigidity; no other abnormalities are noted. Which of the following organisms is most likely to be found on Gram stain of cerebrospinal fluid?

Haemophilus influenzae
Listeria monocytogenes
Neisseria meningitidis
Pseudomonas aeruginosa
Streptococcus pneumoniae (Correct answer)

Correct answer: Streptococcus pneumoniae

The correct answer is Streptococcus pneumoniae. The patient presents with classic symptoms of meningitis (fever, chills, headache, lethargy, neck rigidity). Her diagnosis of multiple myeloma indicates an immunocompromised state, specifically impaired humoral immunity (hypogammaglobulinemia), which increases susceptibility to encapsulated bacteria. Streptococcus pneumoniae is the most common cause of bacterial meningitis in adults and is a significant concern in immunocompromised individuals. While Listeria monocytogenes is also a concern in immunocompromised patients, S. pneumoniae remains the most prevalent cause of bacterial meningitis in adults overall.

Question 6: A 55-year-old man who is a farmer is brought to the emergency department 30 minutes after his wife found him unresponsive in their barn. She reports that he was foaming at the mouth and had evidence of tearing of the eyes, vomiting, and diarrhea. He is unresponsive to painful stimuli. His pulse is 45\/min, and blood pressure is 90\/60 mm Hg. Bilateral diffuse wheezes are heard on auscultation of the chest. This patient has most likely sustained poisoning by which of the following?

Carbon monoxide
Ethanol
Ethylene glycol
Methanol
Organophosphate (Correct answer)

Correct answer: Organophosphate

The correct answer is Organophosphate. The patient's occupation as a farmer, combined with symptoms like foaming at the mouth, tearing, vomiting, diarrhea, bradycardia, hypotension, and wheezing, is highly indicative of organophosphate poisoning. Organophosphates inhibit acetylcholinesterase, leading to an accumulation of acetylcholine and overstimulation of cholinergic receptors, manifesting as a 'cholinergic crisis' or SLUDGE syndrome (Salivation, Lacrimation, Urination, Defecation, GI upset, Emesis), along with bronchospasm and bradycardia. Other options cause different clinical syndromes.

Question 7: A 28-year-old female executive has irresistible urges to sleep during the day. She often has episodes of dropping her head, slurred speech, and suddenly dropping things from her hands, all lasting for seconds to minutes. In addition, she frequently has vivid, colorful dreams just before falling asleep. Occasionally, when in certain emotionally charged situations, she feels like her whole body goes limp; however, she remembers everything. Which of the following is the most likely diagnosis?

Absence seizures
Delayed sleep phase syndrome
Insomnia
Narcolepsy (Correct answer)
Night terrors

Correct answer: Narcolepsy

The correct answer is Narcolepsy. The patient's symptoms align with the classic tetrad of narcolepsy: irresistible urges to sleep during the day (excessive daytime sleepiness), episodes of sudden muscle weakness triggered by emotions (cataplexy), and vivid dreams just before falling asleep (hypnagogic hallucinations). The description of her body going limp while remembering everything is characteristic of cataplexy. Other conditions like absence seizures, insomnia, or night terrors do not present with this specific combination of symptoms.

Question 8: A 15-year-old girl is brought to the physician by her mother for a follow-up examination. She has a 3-year history of seizure disorder treated with topiramate. Her mother says, “I am worried because she’s refused to take her medication since she started dating this new guy. She won’t even tell me why.” Physical examination shows no abnormalities. After the mother is asked to leave the room, which of the following is the most appropriate statement by the physician to begin a discussion of this patient’s lack of adherence to her medication regimen?

“Can you tell me why you don’t want to take your medication anymore?” (Correct answer)
“I would like to discuss the serious consequences that could result from your not taking your medication.”
“I’m worried that your boyfriend isn’t a good influence on you.”
“Perhaps I can talk to your boyfriend about your condition so that you can take your medication again.”
“Since you are still a minor, you must respect your mother’s decision and take your medication.”

Correct answer: “Can you tell me why you don’t want to take your medication anymore?”

This question uses an open-ended approach, inviting the patient to share her perspective without judgment. It respects her autonomy and creates a safe space for her to express her concerns, which is crucial for building trust and understanding the root cause of non-adherence in adolescents. Directly asking "why" allows the physician to gather information from the patient's viewpoint, rather than making assumptions or imposing solutions.

Question 9: A 78-year-old woman is brought to the physician because of a headache and visual problems for 4 days. The headache is more severe on the left side, in the area above and in front of her ear. She has had intermittent fevers, difficulty chewing, and a 4.5-kg (10-lb) weight loss during the past 6 weeks. Her temperature is 37.4°C (99.4°F). Visual fields are decreased. There is tenderness to palpation on the left side of the scalp. Which of the following is the most likely diagnosis?

Acute meningitis
Cluster headache
Idiopathic intracranial hypertension
Migraine
Subarachnoid hemorrhage
Temporal arteritis (Correct answer)
Tension-type headache

Correct answer: Temporal arteritis

The patient's symptoms—headache (especially unilateral and temporal), visual problems, difficulty chewing (jaw claudication), weight loss, and fever in an elderly woman—are classic signs of temporal arteritis (giant cell arteritis). This systemic vasculitis primarily affects medium to large arteries, often involving the temporal artery, and can lead to irreversible vision loss if not promptly treated. The tenderness to palpation on the left side of the scalp further supports this diagnosis.

Question 10: A 65-year-old man comes to the physician because of a 6-week history of fatigue and difficulty swallowing; he also has had a 6.8-kg (15-lb) weight loss during this period. Ten years ago, he underwent operative resection of squamous cell carcinoma of the floor of the mouth. He takes no medications. He has smoked 2 packs of cigarettes daily for 40 years and drinks 60 oz of alcohol weekly. Physical examination shows a nontender abdomen with bowel sounds present. The physician suspects a second primary cancer. This cancer is most likely located at which of the following sites?

Brain
Esophagus (Correct answer)
Liver
Lymph nodes
Stomach

Correct answer: Esophagus

This patient has a significant history of squamous cell carcinoma of the mouth, combined with heavy smoking and alcohol use, which are major risk factors for head and neck cancers. Patients with one squamous cell carcinoma in the upper aerodigestive tract are at high risk for developing a second primary cancer, particularly in the esophagus or other head and neck sites, due to field cancerization. His new symptoms of fatigue, difficulty swallowing (dysphagia), and weight loss strongly suggest an esophageal malignancy.

Question 11: A previously healthy 34-year-old woman had a single rigor 3 days ago. Since then she has had temperatures to 38.9°C (102°F), shortness of breath with minimal exertion, and cough productive of rust-colored sputum. An x-ray of the chest shows consolidation in the right lower lobe of the lung. Which of the following is the most likely diagnosis?

Mycoplasmal pneumonia
Pneumococcal pneumonia (Correct answer)
Pseudomonal pneumonia
Toxoplasmosis
Tuberculosis

Correct answer: Pneumococcal pneumonia

The patient presents with an acute onset of fever, shortness of breath, cough productive of rust-colored sputum, and a single rigor, along with right lower lobe consolidation on chest x-ray. This constellation of symptoms, particularly the rust-colored sputum and single rigor, is highly characteristic of lobar pneumonia caused by *Streptococcus pneumoniae* (pneumococcal pneumonia). It is the most common cause of community-acquired bacterial pneumonia.

Question 12: A 35-year-old woman comes to the physician because of abdominal pain for 6 months. She has not had fever, nausea, or vomiting. She has no history of major medical illness. She takes no medications. She does not smoke cigarettes or drink alcohol. Physical examination shows ecchymoses in various stages of healing over the upper and lower extremities. There are acute hematomas around the wrists. Test of the stool for occult blood is negative. A pregnancy test result is negative. It is most appropriate for the physician to ask which of the following questions to begin a discussion with this patient about the possibility of physical abuse?

“Can you tell me how you received these bruises?” (Correct answer)
“What do you think about making an appointment with a social worker?”
“Why do you stay with someone who physically abuses you?”
“Why don’t you tell me why you really came to see me?”
“Would you like me to report whoever did this to you to the authorities?”

Correct answer: “Can you tell me how you received these bruises?”

When suspecting physical abuse, the most appropriate initial approach is to ask an open-ended, non-judgmental question about the injuries observed. This allows the patient to explain the situation in her own words, maintaining her autonomy and fostering trust. Directly accusing or making assumptions can alienate the patient, while immediately suggesting a social worker might be premature and overwhelming.

Question 13: A 22-year-old football player is brought to the emergency department 1 hour after he sustained a left leg injury during a tackle. Physical examination shows mild tenderness and anterior instability of the tibia with the knee in 90 degrees of flexion (positive drawer sign). Active range of motion of the left knee is limited by pain. Which of the following best explains these findings?

Hemarthrosis
Patellar fracture
Tear of the anterior cruciate ligament (Correct answer)
Tear of the medial ligament
Tear of the medial meniscus

Correct answer: Tear of the anterior cruciate ligament

The "anterior instability of the tibia with the knee in 90 degrees of flexion" and a "positive drawer sign" are classic indicators of an anterior cruciate ligament (ACL) tear. The ACL prevents the tibia from sliding too far forward relative to the femur. A positive anterior drawer test specifically assesses this anterior translation, confirming the ligament's compromise.

Question 14: A postmenopausal 60-year-old woman comes to the physician because of a 2-year history of vaginal dryness, intermittent vaginal pain, and decreased pleasure with sexual intercourse. Vital signs are within normal limits. Abdominal examination shows no abnormalities. Pelvic examination shows pale, dry vaginal mucosa. No masses are palpated. Which of the following is the most appropriate next step in management?

Advise the patient that since these problems are expected for a woman her age, the risks associated with pharmacotherapy outweigh any benefits
Explain to the patient that it will be important to assess the impact of her condition on her husband as further treatment is initiated
Inform the patient that she should accept her symptoms as part of the normal aging process
Inform the patient that these problems are often psychological and that she would benefit from psychotherapyInform the patient that these problems are often psychological and that she would benefit from psychotherapyInform the patient that these problems are often psychological and that she would benefit from psychotherapy
Reassure the patient that her symptoms are common among women her age and that there are treatments available (Correct answer)

Correct answer: Reassure the patient that her symptoms are common among women her age and that there are treatments available

The patient's symptoms of vaginal dryness, pain, and decreased pleasure are common manifestations of genitourinary syndrome of menopause (GSM), caused by estrogen deficiency. It is crucial for the physician to validate her concerns, normalize her experience, and inform her that effective treatments, such as vaginal estrogen or non-hormonal lubricants, are available. Dismissing her symptoms as "normal aging" or solely psychological is inappropriate and neglects her quality of life.

Question 15: A 73-year-old woman is brought to the emergency department because of severe back pain for 1 day. She has had no recent falls or trauma to the area. Menopause occurred at the age of 52 years. Her temperature is 37°C (98.6°F), pulse is 92\/min, and blood pressure is 140\/92 mm Hg. Physical examination shows spinal tenderness at T8. A spinal x-ray shows fractures at T8 and T10. Which of the following is the most likely underlying cause of this patient’s condition?

Osteitis deformans (Paget disease)
Osteomalacia
Osteoporosis (Correct answer)
Pott disease
Spinal metastasis

Correct answer: Osteoporosis

This 73-year-old postmenopausal woman presenting with severe back pain and vertebral compression fractures (T8 and T10) without significant trauma is highly suggestive of osteoporosis. Menopause at age 52 indicates prolonged estrogen deficiency, a major risk factor for bone density loss. Osteoporosis leads to fragile bones that are prone to fractures, even from minimal stress.

Question 16: A 60-year-old woman comes to the physician because of a 3-month history of abdominal fullness and increasing abdominal girth with vague lower quadrant pain. Abdominal examination shows distention. Pelvic examination shows a 10-cm, hard, irregular, nontender, right adnexal mass. Which of the following is the most appropriate statement by the physician at this time?

“Do you have any friends or family members with you today who could join us before I tell you the diagnosis?”
“I’m concerned about something I found during the examination today. Let’s talk about what needs to be done to figure out what it is.” (Correct answer)
“I’m not sure whether there is something abnormal in your pelvis. You’ll need to undergo a pelvic ultrasonography for further study.”
“It looks like you have ovarian cancer, but we’ll need to do further tests to be sure.”
“Unfortunately, I need to refer you to a cancer specialist because you have some abnormal examination findings.”

Correct answer: “I’m concerned about something I found during the examination today. Let’s talk about what needs to be done to figure out what it is.”

This statement is empathetic, direct, and professional. It acknowledges the physician's concern without immediately delivering a definitive, potentially alarming diagnosis like cancer, which requires further investigation. It also empowers the patient by inviting her into the diagnostic process and discussing the next steps, fostering a collaborative approach to her care.

Question 17: A 26-year-old woman comes to the emergency department because of a 12-hour history of lower abdominal pain and vaginal bleeding. There is no history of medical illness, and she takes no medications. Her temperature is 37°C (98.6°F), pulse is 125\/min, respirations are 40\/min, and blood pressure is 96\/64 mm Hg. Abdominal examination shows distention and tenderness. Decreased bowel sounds are heard. Pelvic examination shows an adnexal mass on the right. Measurement of which of the following is the most appropriate next step in management of this patient?

Leukocyte count
Platelet count
Prothrombin time
Serum α-fetoprotein concentration
Serum β-human chorionic gonadotropin concentration (Correct answer)

Correct answer: Serum β-human chorionic gonadotropin concentration

The patient's symptoms of lower abdominal pain, vaginal bleeding, abdominal distention and tenderness, decreased bowel sounds, an adnexal mass, and signs of hypovolemic shock (tachycardia, tachypnea, hypotension) are highly concerning for an ectopic pregnancy rupture. Measuring serum β-human chorionic gonadotropin (β-hCG) is the most critical initial step to confirm pregnancy and assess for this life-threatening condition, guiding immediate management.

Question 18: A 25-year-old woman with stable cystic fibrosis meets inclusion criteria for a placebo-controlled industry-sponsored research study on a new treatment. The primary care physician is not part of the research team, but he is familiar with the research and considers it to be scientifically sound. The research protocol provides medication and medical care limited to assessing medication effects and adverse effects for 6 months. The patient knows of the study and asks the physician if she should enroll. Which of the following is the most appropriate initial response by the primary care physician?

Advise against participation because the research is funded by a pharmaceutical company
Provide the patient with basic information about the study, and ask if she would like to learn more from the research team (Correct answer)
Strongly recommend to the patient that she participate in the study because it will benefit future generations
Tell the patient that if she enrolls in the study, he will not be able to provide any medical care for her during this study

Correct answer: Provide the patient with basic information about the study, and ask if she would like to learn more from the research team

The primary care physician's role is to act as an advocate for the patient, providing objective information about the study without influencing her decision to participate. Giving basic information and offering a referral to the research team allows the patient to make an informed decision based on her own values and understanding of the risks and benefits, upholding the principle of informed consent.

Clinical Diagnosis Test

A 6-month-old boy is brought to the physician because of left knee swelling for 24 hours.
Three months ago, he had three large hematomas on his forehead that resolved without treatment.
His two sisters and his mother have no history of similar symptoms.
His mother’s maternal uncle and her brother died before the age of 30 years of massive cerebral hemorrhages.
Physical examination shows deep ecchymoses over the buttocks and severe swelling of the left knee.
The most likely explanation for these findings is a deficiency of which of the following?