Case Histories

Question 1

A 40-year-old man presents to his primary care physician with a 2-month history of intermittent upper abdominal pain. He describes the pain as a dull, gnawing ache. The pain sometimes wakes him at night, is relieved by food and drinking milk, and is helped partially by ranitidine. He had a similar but milder episode about 5 years ago, which was treated with omeprazole. Physical examination reveals a fit, apparently healthy man in no distress. The only abnormal finding is mild epigastric tenderness on palpation of the abdomen.

Answer 1

Peptic ulcer disease

Question 2

A 48-year-old man presents to hospital after several episodes of vomiting blood following periods of forceful retching and vomiting. He had been binge drinking alcohol over the preceding 2 days.

Answer 2

Mallory-Weiss tear

Question 3

A 64-year-old man presents to hospital after 4 episodes of vomiting over the past 2 days. He describes the appearance of the vomit as resembling coffee grounds. Black, tarry stool was seen during rectal examination; however, no other physical findings were seen.

Answer 3

Mallory-Weiss tear

Question 4

A 51-year-old man with moderate obesity (body mass index of 34 kg/m²) is seen in consultation for heartburn and regurgitation. He has a diagnosis of gastro-oesophageal reflux disease and has been treated with proton-pump inhibitors. His heartburn is less severe with the medication, but he is still bothered by regurgitation. His physical examination is unremarkable. A barium oesophagram and upper endoscopy demonstrate a type I (sliding) hiatus hernia, with about one third of the upper stomach in the chest. The patient has free reflux to the level of the cervical oesophagus.

Answer 4

Hiatus hernia

Question 5

A 42-year-old woman has heartburn after meals and a sour taste in her mouth. For the past 4 to 6 months she has had symptoms several times per week. Symptoms are worse when she lies down or bends over. Antacids help somewhat. The patient has no dysphagia, vomiting, abdominal pain, exertional symptoms, melaena, or weight loss. Past medical history and family history are non-contributory. The patient drinks alcohol occasionally and does not smoke. On physical examination, height is 1.63 m (5 feet 4 inches), weight 77.1 kg, and BP 140/88 mmHg. The remainder of the examination is unremarkable.

Answer 5

GORD

Question 6

A 55-year-old obese man presents with frequent heartburn. He describes a post-prandial, retrosternal burning sensation following fatty and spicy meals. This symptom also frequently wakes him from sleep, with occasional coughing and a sour taste in his throat. He has tried many OTC antacids, which only relieve symptoms in the short term. He has suffered from this symptom for over 10 years. He denies dysphagia, odynophagia, or weight loss, but reports frequent hoarseness in the mornings. His past medical history is significant only for HTN. His family history is unremarkable. He did smoke cigarettes, but stopped 5 years ago.

Answer 6

Barrett’s oesophagus

Question 7

A 28-year-old woman presents with a history of severe pain on defecation for the last 3 months. She has noticed a small amount of blood on the stool. The pain is severe and she is worried about the pain she will experience with the next bowel action.

Answer 7

Anal fissure

Question 8

A 70-year-old man presents to his primary care physician with a complaint of rectal bleeding. He describes blood mixed in with the stool, which is associated with a change in his normal bowel habit such that he is going more frequently than normal. He has also experienced some crampy left-sided abdominal pain and weight loss. He has previously been fit and well and there was no family history of GI disease. Examination of his abdomen and digital rectal examination are normal.

Answer 8

Colorectal cancer

Question 9

A 60-year-old Asian man with a long-standing history of chronic hepatitis B virus complicated by cirrhosis presents to his primary care physician with abdominal distension, yellow eyes, right upper quadrant (RUQ) abdominal pain, decreased appetite, weight loss, and change in his sleep pattern for several weeks. Physical examination reveals a cachectic man with jaundice, palmar erythema, ascites, a palpable mass in RUQ, and asterixis.

Answer 9

Hepatocellular carcinoma

Question 10

A 55-year-old black man with a history of intravenous drug use, heavy alcohol drinking, and chronic hepatitis C virus with cirrhosis of the liver is referred to a liver specialist with an elevated serum alpha fetoprotein of 200 micrograms/L (200 ng/mL) and a 2 cm liver mass in the screening ultrasound of the abdomen. Physical examination reveals palmar erythema, bilateral leg oedema, and ascites.

Answer 10

Hepatocellular carcinoma

Question 11

A 42-year-old man is referred to the liver clinic with mild elevation in alkaline phosphatase and aminotransferases for several years. He has a medical history significant for obesity, hypertension, and hypercholesterolaemia. He does not smoke or drink alcohol and there is no high-risk behaviour. He has a family history of premature cardiac disease. He is taking a diuretic and discontinued a statin several months ago. Other than complaints of mild fatigue, the patient feels well. Examination is notable for a BMI of 37 kg/m^2, truncal obesity, and mild hepatomegaly.

Answer 11

NASH

Question 12

A 63-year-old woman is admitted to the hospital with new-onset ascites. She has a history of long-standing diabetes and hypertension. She has never formally been given a diagnosis of liver disease. Despite increasing abdominal distension, she has lost 13.5 kg in the last year. Physical examination reveals a lethargic-appearing woman with temporal wasting, massive ascites, and 2+ pitting oedema. She has numerous spider nevi over her chest wall and marked palmar erythema.

Answer 12

NASH

Question 13

A 57-year-old man is evaluated for progressive arthralgias. There is swelling and tenderness over the first, second, and third metacarpophalangeal joints of both hands. Findings on hand radiographs are suggestive of calcium pyrophosphate deposition, raising concern for haemochromatosis. Iron studies are obtained, showing a transferrin saturation of 88% and serum ferritin of nearly 2700 picomols/L (1200 nanograms/mL). HFE genotyping confirms that he is a C282Y homozygote.

Answer 13

Haemochromatosis

Question 14

A 50-year-old man with a history of obesity and heavy alcohol use presents with a 2-month history of weakness, jaundice, and ascites. He is found to be a C282Y homozygote after laboratory testing shows a transferrin saturation of 76% and ferritin of 11,000 picomols/L (5000 nanograms/mL). Imaging studies demonstrate a cirrhotic-appearing liver with an ill-defined mass in the right lobe and multiple pulmonary nodules suspicious for metastases. Hepatic iron overload with metastatic hepatocellular carcinoma is confirmed at autopsy.

Answer 14

Haemochromatosis

Question 15

A 50-year-old woman undergoing health screening is found to have a cholestatic pattern on her LFT results. Her alkaline phosphatase and gamma-GT concentrations are elevated, although transaminases, bilirubin, and albumin concentrations are normal. On questioning she mentions that she had been getting increasingly tired over the past few years but felt that this was simply a result of her age and work pattern. She also describes occasional itch that feels as if it is deep underneath the skin and that is not associated with a rash. She had no other past medical history but had a family member who had autoimmune thyroid disease. Clinical examination reveals no abnormal findings other than excoriations related to itch and xanthelasmata around the eyes.

Answer 15

Primary Biliary Cirrhosis

Question 16

A 22-year-old male presents to the emergency department with abdominal pain, anorexia, nausea, and low-grade fever. Pain started in the mid-abdominal region 6 hours ago and is now in the right lower quadrant of the abdomen. The pain was steady in nature and aggravated by coughing. Physical examination reveals a low-grade fever (38°C; 100.5°F), pain on palpation at right lower quadrant (McBurney’s sign), and leukocytosis (12 x 10^9/L or 12,000/microlitre) with 85% neutrophils.

Answer 16

Appendicits

Question 17

A 12-year-old girl presents with sudden-onset severe generalised abdominal pain associated with nausea, vomiting, and diarrhoea. On examination she appears unwell and has a temperature of 40°C (104°F). Her abdomen is tense with generalised tenderness and guarding. No bowel sounds are present.

Answer 17

Appendicitis

Question 18

A 20-year-old man reports chronic offensive discharge of pus and blood from his natal cleft. He relates that several months previously he had a ‘boil’ in the same region, which was painful and then burst spontaneously. On examination, the patient has dense body hair. There are several sinus tracts in the midline or just lateral to the natal cleft, from which offensive-smelling discharge can be expressed.

Answer 18

Pilonidal Sinus

Question 19

A 22-year-old male presents to the emergency department with abdominal pain, anorexia, nausea, and low-grade fever. Pain started in the mid-abdominal region 6 hours ago and is now in the right lower quadrant of the abdomen. The pain was steady in nature and aggravated by coughing. Physical examination reveals a low-grade fever (38°C; 100.5°F), pain on palpation at right lower quadrant (McBurney’s sign), and leukocytosis (12 x 10^9/L or 12,000/microlitre) with 85% neutrophils.

Answer 19

Appendicits

Question 20

A 12-year-old girl presents with sudden-onset severe generalised abdominal pain associated with nausea, vomiting, and diarrhoea. On examination she appears unwell and has a temperature of 40°C (104°F). Her abdomen is tense with generalised tenderness and guarding. No bowel sounds are present.

Answer 20

Appendicitis

Question 21

A 20-year-old man reports chronic offensive discharge of pus and blood from his natal cleft. He relates that several months previously he had a ‘boil’ in the same region, which was painful and then burst spontaneously. On examination, the patient has dense body hair. There are several sinus tracts in the midline or just lateral to the natal cleft, from which offensive-smelling discharge can be expressed.

Answer 21

Pilonidal Sinus

Question 22

A 60-year-old woman presents complaining of bilateral knee pain on most days of the past few months. The pain was gradual in onset. The pain is over the anterior aspect of the knee and gets worse with walking and going up and down stairs. She complains of stiffness in the morning that lasts for a few minutes and a buckling sensation at times in the right knee. On examination, there is a small effusion, diffuse crepitus, and limited flexion of both knees. Joint tenderness is more prominent over the medial joint line bilaterally. She has a steady but slow gait, slightly favouring the right side.

Answer 22

Osteoarthritis

Question 23

A 55-year-old woman has been complaining of pain and swelling in several fingers of both hands for the past 2 months. She describes morning stiffness lasting for 30 minutes. Her mother tells her that she had a similar condition at the same age. She denies any other joint pain or swelling. On examination, she has tenderness, slight erythema, and swelling in one PIP joint and two DIP joints in each hand. She has squaring at the base of her right thumb (the first carpometacarpal joint). There is no swelling or tenderness in her MCP joints.

Answer 23

Osteoarthritis

Question 24

A 63-year-old man with sun-damaged skin presents with a small nodule on the left aspect of his forehead. He mentions that it is itchy at times, and he thinks that he may have seen a colleague 2 years previously for removal of some keratoses or scabs. The patient indicates that these were either cauterised or frozen. On examination there is a pearly white nodule with prominent telangiectasia on its surface.

Answer 24

BCC

Question 25

A woman in her mid-40s with dark, leathery skin and intense wrinkling of the lower neck (signifying excessive sun exposure either in a form of frequent sun tanning beds or perhaps frequent beach visits) presents at your office. She reports she has had multiple facial lifts, to decrease wrinkles. The plastic surgeon she has consulted performed other cosmetic procedures, including botulinum toxin type A injections. She complains about a mole on her jaw that has recently started to bleed.

Answer 25

BCC

Question 26

A 33-year-old woman presents to her doctor complaining of a several-month history of episodic palpitations and diaphoresis. She states that her husband noticed that she becomes pale during these episodes. She has been experiencing progressive episodic headaches, which are not relieved by paracetamol. In the past, she has been told that she had a high calcium level. She has a history of kidney stones. Her family history is unremarkable; specifically, there is no history for tumours, endocrinopathies, or hypertension. Physical examination reveals a BP of 220/120 mmHg and hypertensive retinal changes.

Answer 26

Pheochromocytoma

Question 27

A 34-year-old woman presents with complaints of weight gain and irregular menses for the last several years. She has gained 20 kg over the past 3 years and feels that most of the weight gain is in her abdomen and face. She notes bruising without significant trauma, difficulty rising from a chair, and proximal muscle wasting. She was diagnosed with type 2 diabetes and hypertension 1 year ago.

Answer 27

Cushing syndrome

Question 28

A 54-year-old man presents for evaluation of an incidentally discovered adrenal nodule. He underwent a CT scan of the abdomen for evaluation of abdominal pain, which was negative except for a 2 cm well-circumscribed, low-density (2 Hounsfield units) nodule in the right adrenal gland. He reports weight gain of 15 kg over the past 4 years. He has difficult-to-control type 2 diabetes and hypertension. He has had 2 episodes of renal colic in the last 5 years.

Answer 28

Cushing syndrome

Question 29

A 72-year-old white woman presents with partial vision loss in the right eye. She reports bitemporal headache for several weeks, accompanied by pain and stiffness in the neck and shoulders. Review of systems is positive for low-grade fever, fatigue, and weight loss. On physical examination, there is tenderness of the scalp over the temporal areas and thickening of the temporal arteries. Fundoscopic examination reveals pallor of the right optic disc. Bilateral shoulder range of motion is limited and painful. There is no synovitis or tenderness of the peripheral joints. There are no carotid or subclavian bruits, and the blood pressure is normal and equal in both arms. The remainder of the examination is unremarkable.

Answer 29

Giant Cell Arteritis

Question 30

A 38-year-old man presents with fever of 38.5°C (101.2°F), chills, myalgias, non-productive cough, and dyspnoea. Other than tachypnoea, tachycardia, and bibasilar rales, the rest of the physical examination is normal. He reports that this happens almost every month the day after he cleans out the bird cages in which he keeps the pigeons that he breeds and races.

Answer 30

Extrinsic Allergic Alveolitis

Question 31

A 60-year-old man presents with acute onset of shortness of breath, fever, and cough. A chest x-ray shows a right lower lobe infiltrate, and sputum has gram-positive diplococci. He is given intravenous antibiotics but his respiratory status declines over 24 hours. He becomes hypotensive and is transferred to the intensive care unit. He is intubated for hypoxaemia and requires vasopressors for septic shock despite adequate volume resuscitation. He requires high levels of inspired oxygen (FiO₂) and positive end-expiratory pressure (PEEP) on the ventilator to keep his oxygen saturation >90%. Repeat chest x-ray shows bilateral alveolar infiltrates, and his PaO₂/FiO₂ ratio is 109.

Answer 31

ARDS

Question 32

A 67-year-old retired construction worker has shortness of breath with activity that has been gradually getting worse, and a chronic cough. He denies chest pain. He has a 45-pack-year smoking history, but stopped smoking aged 50 years. There is no family history of lung disease. He does not take any respiratory medicine on a regular basis. With colds he has noticed wheezing and his doctor once prescribed an inhaler.

Answer 32

Asbestosis

Question 33

A 55-year-old factory maintenance worker falls at work. A CXR is performed to evaluate the patient for a possible broken rib. Bilateral pleural thickening is seen on CXR. Further history indicates he is very active without any respiratory symptoms. He smokes 20 cigarettes a day. There is no family history of lung disease. He does not take any respiratory medicine.

Answer 33

Asbestosis

Question 34

72-year-old man presents to his primary care physician with a history of increasing shortness of breath over a period of several months. Before his retirement he was a construction worker. Physical examination reveals decreased breath sounds in the right lung base associated with dullness to percussion.

Answer 34

Mesothelioma

Question 35

A 65-year-old man presents with gradually progressive dyspnoea on exertion and a non-productive cough. He has no history of underlying lung disease and no features that would suggest an alternative aetiology for his cough and dyspnoea. He has no history of joint inflammation, skin rashes, or other features of a systemic inflammatory disease such as lupus or rheumatoid arthritis. He is on no medications and has no environmental exposures to organic allergens such as mould. On examination, he has fine crackles audible over his lung bases bilaterally but no evidence of volume overload. He has clubbing of his fingers.

Answer 35

Idiopathic pulmonary fibrosis

Question 36

A 72-year-old man with a history of cigarette smoking presents with mild shortness of breath. He is treated initially with inhaled bronchodilators for a presumed diagnosis of chronic obstructive lung disease but has no symptomatic improvement. PFTs are performed and show restriction rather than obstruction, and impaired diffusing capacity for carbon monoxide. A follow-up CXR shows prominent bi-basilar interstitial markings.

Answer 36

Idiopathic pulmonary fibrosis

Question 37

A 65-year-old man presents with a 2-month history of a dry persistent cough and 4.5 kg unintentional weight loss. He denies fevers, dyspnoea, sore throat, rhinorrhoea, chest pain or haemoptysis. Medical history is significant for COPD and hypertension. Family history is non-contributory. He smoked 1 pack of cigarettes daily for 40 years but quit 5 years ago. No adenopathy is palpable on examination and breath sounds are diminished globally without focal wheezes or crackles.

Answer 37

Lung cancer

Question 38

A 41-year-old obese man presents with loud chronic snoring and gasping episodes during sleep. His wife has witnessed episodic apnoea. He reports unrefreshing sleep, multiple awakenings from sleep, and morning headaches. He has excessive daytime sleepiness, which is interfering with his daily activities, and he narrowly avoided being involved in a motor vehicle accident. His memory is also affected. He has been treated for hypertension, gastro-oesophageal reflux, and type 2 diabetes.

Answer 38

OSA

Question 39

A 76-year-old retired steelworker has shortness of breath with activity that has been gradually getting worse, and a chronic cough. He denies chest pain. He has a 45-pack/year smoking history, but stopped aged 50. There is no family history of lung disease. He does not take any respiratory medication on a regular basis. He has noticed that he wheezes when he has an upper respiratory infection (URI), and his doctor once prescribed him an inhaler. He is also bothered by joint swelling and stiffness. Lung auscultation is normal.

Answer 39

Pneumoconiosis

Question 40

A 20-year-old man presents to the emergency department with complaints of left-sided chest pain and shortness of breath. He states that these symptoms began suddenly 4 days ago while he was working at his computer. He initially thought that he might have strained a chest wall muscle, but because the pain and dyspnoea had not resolved, he decided to seek medical attention. He has no significant past medical history but has smoked cigarettes since the age of 16 years. His older brother suffered a pneumothorax at the age of 23 years. The patient’s vital signs are normal. He appears in mild discomfort. Examination of his chest reveals that the left hemithorax is mildly hyperexpanded with decreased chest excursion. His left hemithorax is hyper-resonant on percussion, and breath sounds are diminished when compared with the right hemithorax. His cardiovascular examination is normal.

Answer 40

Pneumothorax

Question 41

A 65-year-old patient with COPD presents to the emergency department with complaints of worsening shortness of breath and right-sided chest discomfort. He states that these symptoms occurred suddenly 1 hour prior to presentation. He denies fevers and chills. He also denies increased sputum production and a change in the colour or character of his sputum. He continues to smoke cigarettes against medical advice. The patient’s blood pressure is 136/92 mmHg, heart rate is 110 beats per minute, and respiratory rate is 24 breaths per minute. Chest excursion is decreased on the right more than the left. His right hemithorax is more hyperinflated than the left. His right hemithorax is hyper-resonant on percussion. Breath sounds are distant bilaterally but more diminished on the right.

Answer 41

Pneumothorax

Question 42

A 42-year-old school teacher presents with difficulty managing her classroom. She has become increasingly irritable with students and fails to complete assigned tasks on time. Her sister and husband report that she has become restless, pays less attention to her appearance and social obligations, and at times is anxious and upset. She has stumbled unexpectedly. Her symptoms resemble those of her mother when she was diagnosed with Huntington’s disease. On examination, her speech is somewhat uneven and she is inappropriately flippant. Subtracting serial 7s from 100, while seated with her eyes closed, brings out random ‘piano-playing’ movements of the digits along with other movements of the limbs, torso, and face. Subtraction errors occur with this task. She is unable to keep her tongue fully protruded for 10 seconds. Finger tapping is slower than the examiner’s, and tapping tempo is uneven. Tandem walking is impaired.

Answer 42

Huntington’s Disease

Question 43

A 25-year-old woman presents with recurrent slurring of speech that worsens when she continues to talk. She has trouble swallowing, which deteriorates when she continues to eat, and has double vision that gets worse when sewing, reading, or watching TV. She reports that her head is heavy and hard to hold up. Her symptoms have progressively deteriorated over the past 6 months. She has intermittent weakness in her legs and arms. She is fearful of falling due to her legs giving way and she has trouble combing her hair or putting on deodorant. She reports a feeling of generalised fatigue and is occasionally short of breath.

Answer 43

Myasthenia gravis

Question 44

A 76-year-old man reports double vision for the past 2 months. Within the past 2 weeks he has developed bilateral ptosis (drooping eyelids). His ptosis is so severe at times that he holds his eyes open to read. He is unable to drive due to the ptosis and the diplopia (double vision). His symptoms are generally better in the morning and progress throughout the day.

Answer 44

Myasthenia gravis

Question 45

A 1-month-old girl presents to her general practitioner with a high fever, feeding difficulties, and irritability for the past 24 hours. Examination reveals altered mental status and a bulging fontanelle.

Answer 45

Meningitis

Question 46

An 18-year-old male student presents with severe headache and fever that he has had for 3 days. Examination reveals fever, photophobia, and neck stiffness.

Answer 46

Meningitis

Question 47

A 28-year-old white woman who has smoked 1 pack per day for the last 10 years presents with subacute onset of cloudy vision in 1 eye, with pain on movement of that eye. She also notes difficulty with colour discrimination, particularly of reds. She was treated for a sinus infection 2 weeks ago and on further history recalls that she had a 3-week history of unilateral hemibody paraesthesias during examination week in university 6 years ago. She occasionally has some tingling on that side if she is overly tired, stressed, or hot.

Answer 47

Multiple Sclerosis

Question 48

A 31-year-old woman with strong family history of autoimmune disease is 6 months postnatal and develops ascending numbness and weakness in both feet, slightly asymmetrically, over a period of 2 weeks. She gradually develops difficulty walking to the point where she presents to an emergency department and is also found to have a urinary tract infection.

Answer 48

Multiple Sclerosis

Question 49

A male infant is found to have multiple café au lait spots at his routine 6-month paediatric follow-up visit. The physician queries NF1 and refers the patient to a dermatologist, who concurs with the tentative diagnosis and refers the infant to the nearest university-based NF specialty clinic. There, a general physical examination is otherwise unrevealing and an ophthalmological examination is normal. As is standard for this particular NF clinic, a screening cranial MRI is performed, revealing an optic pathway glioma involving the proximal right optic nerve and optic chiasm, as well as multiple hyperintense T2-weighted signals in the periventricular white matter, globus pallidus, and cerebellum. Given an otherwise negative family history and the lack of NF1 findings on physical examination of both parents, the family is counselled that a new NF1 mutation is likely. The optic pathway glioma will be followed by ophthalmological examinations and neuroimaging.

Answer 49

Type 1 Neurofibromatosis

Question 50

A 26-year-old woman presents with multiple sessile fleshy skin lesions. She has been aware of multiple café au lait spots since early childhood, although she ignored them as they were deemed to be birthmarks. The truncal skin lumps that led to her presentation began to appear (or become prominent) during the early second trimester of her recent pregnancy, at the end of which she delivered a female infant with multiple light brown birthmarks. Physical examination of the woman shows café au lait spots, bilateral axillary freckling, and multiple cutaneous neurofibromas over the trunk and proximal limbs. She has no neurological abnormalities. A slit-lamp ophthalmological examination reveals multiple iris Lisch nodules bilaterally. The diagnosis of NF1 is substantiated on clinical grounds. Genetic counselling clarifies the 50% recurrence risk of NF1, and respecting the patient’s wish to have additional children free of NF1, a blood sample is obtained for a molecular diagnosis in anticipation of using the data for antenatal diagnosis, or preimplantation diagnosis and selective implantation of NF1-free conceptuses.

Answer 50

Type 1 neurofibromatosis