Year 3 cases Flashcards
A 57-year-old woman with a history of stage I breast cancer status post-lumpectomy is being treated with doxorubicin and cyclophosphamide every 3 weeks. She had her first treatment 8 days ago and now presents with a temperature of 38.2°C (100.8°F). Vital signs are stable and she has no localising signs or symptoms other than mouth sores. White blood cell count is 550/microlitre with an absolute neutrophil count of 200 cells/microlitre.
What is the diagnosis?
Neutropenic sepsis
A 40-year-old woman awakens with left-sided facial fullness and a subjective feeling of facial and tongue ‘numbness’ without objective hypoaesthesia. She also notes left-sided dysgeusia. Later that day she develops left-sided otalgia, hyperacusis, post-auricular pain, and facial discomfort. Left-sided facial palsy ensues, with associated oral incompetence, facial weakness, and asymmetry progressing to complete flaccid paralysis by the next morning. On physical examination, the resting appearance of the left face demonstrates brow ptosis, a widened palpebral fissure, effacement of the left nasolabial fold, and inferior malposition of the left oral commissure. There is complete absence of brow movement, incomplete eye closure with full effort, and loss of smile, snarl, and lip pucker on the affected side. The remainder of the history and physical examination are unremarkable.
What is the diagnosis?
Bells palsy
A 19-year-old man is diagnosed with a highly proliferating non-Hodgkin’s lymphoma. The disease is bulky, involving lymph nodes above and below the diaphragm, spleen, and bone marrow. Serum lactate dehydrogenase is significantly raised, but renal function and electrolytes are within normal limits. Twenty-four hours after initiation of aggressive chemotherapy he complains of nausea, vomiting, diarrhoea, and lethargy. He has become oliguric and is hypertensive and tachycardic. Biochemistry demonstrates elevated uric acid, potassium, and phosphate, as well as raised urea and creatinine.
What is the diagnosis?
TLS
A 69-year-old woman with a 2-year history of chronic lymphocytic leukaemia presents with a white blood cell (WBC) count of 41 x 10^9/L (41,000/microlitre). She has a past medical history of hypertension and mild renal impairment related to the use of NSAIDs for osteoarthritis. She is started on systemic chemotherapy with fludarabine. At follow-up 7 days after initiation of treatment she complains of fatigue and weakness. Her WBC count has fallen to within normal levels but serum biochemistry reveals hyperuricaemia, hyperkalaemia, hyperphosphataemia, hypocalcaemia, and a significant deterioration in renal function.
TLS
A 60-year-old man presents with progressive headache and cognitive decline. A MRI of the brain without gadolinium enhancement demonstrates a large extra-axial lesion that is similar intensity to brain on T1 images. After contrast administration, the lesion enhances avidly. The tumour was removed by craniotomy and the patient has been followed with serial imaging studies (once per year) with no evidence of recurrence after 6 years.
meningioma
A 52-year-old man presents with some difficulty driving at night and reports not seeing cars coming from the sides. He also describes progressive loss of libido and inability to obtain and maintain an erection, which started about 2 years ago. He reports bumping into things. He has gained about 5 kg (11 lb) in weight over the past 2 to 3 years. He has fatigue and is unable to do the same jobs that he used to do a year ago. The examination reveals moderate obesity (BMI 35) with some loss of muscle bulk over the proximal arm and leg muscle groups. Other positive findings include the presence of small bilateral gynaecomastia, soft testicles (12 mL), and abnormal visual fields to confrontation, with bitemporal hemianopia.
non functioning pituitary adenoma
A 40-year-old woman presents with a history of progressively decreased hearing in her left ear over the past few years. She noticed the hearing deficit when trying to use the phone with the left ear. She has recently complained of intermittent dizziness, tinnitus in the left ear, and vague left-sided headaches.
vestibular schwannoma
A 6-year-old boy presents with 3 to 4 weeks of morning headaches and intermittent vomiting without fever. The headaches improve throughout the day. Over the past 2 days, the headaches are lasting longer and the vomiting is more frequent, but after vomiting the headaches are much improved. The headaches are not localised to one side. On the day of presentation, the parents note that he is walking like a ‘drunken sailor’.
medulloblastoma
A 35-year-old right-handed man presents with a partial seizure involving jerky movements of his right arm and the right side of his face. He also reports left-sided headaches for a few months and clumsiness of his right hand. On examination he is awake and orientated. He has a subtle facial droop and pronator drift on the right side.
asytrocytic brain tumour
A 65-year-old woman presents with cognitive and memory changes over the past few weeks, associated with headaches over the past week. On examination she is apathetic and has slow mentation and left-sided weakness.
astrocytic brain tumour - glib
A 16-year-old girl presents with primary amenorrhoea, galactorrhoea, and mild headaches. Ophthalmological examination reveals loss of vision in the right eye (20/40).
Other presentations
Approximately 50% of patients present acutely with signs and symptoms of raised intracranial pressure (headache, nausea, vomiting, depressed sensorium, diplopia) or acute visual loss requiring emergent surgery. [2] [3] [4] Visual impairment is found preoperatively in at least 75% of patients, although this is uncommon as the only presenting symptom.
craniopharyngiomas
A 44-year-old male smoker presents with a 9-year history of recurrent headaches. Headaches occurred twice-monthly initially, always in the early hours of the morning (2 a.m. to 3 a.m.). The headaches have increased to an average of 2 episodes per day. The acute episodes can occur at any time, and last between 2 and 4 hours. He always has a nocturnal event. Attacks are triggered immediately after drinking alcohol or with the smell of strong aftershave or petrol. The pain is excruciating and focused around his right eye. The right eye reddens and tears, the right eyelid droops, and the right nostril runs. He becomes severely agitated during attacks, often pacing the room or rocking back and forth. Physical examinations, lumbar puncture, brain magnetic resonance imaging (including pituitary views), and pituitary function blood tests are normal.
Cluster headache
A 56-year-old man presents to the emergency department with headache, fever, blurred vision, and somnolence followed shortly by unresponsiveness to verbal commands. For the last 2 weeks he had been feeling ill and had decreased appetite and myalgias. Three days prior to presentation he experienced intermittent confusion, severe headache, and fever. Examination was limited by a generalised tonic-clonic seizure, for which he received lorazepam.
encephalitis
A 19-year-old man presents to the emergency department with a witnessed generalised tonic-clonic seizure episode. One month previously he had an upper respiratory tract infection. Over the last 2 weeks he developed headaches, blurred vision, generalised weakness, and progressive difficulty in walking. Examination revealed pain on eye movement as well as limb and gait ataxia.
encephalitis
A 45-year-old homeless man is found unconscious in the street. He appears stiff, with continuously shaking extremities, foaming at the mouth, and urinary incontinence. On arrival to the emergency department, he has stopped shaking but is still unconscious. Stiffening and shaking resume a few minutes later. Two empty medicine bottles are found in his pocket, labelled phenytoin and valproic acid.
status epilepticus
A 15-year-old girl wakes up disoriented and confused. She remains still in bed, looking continuously around the room as if daydreaming. When asked about her strange behaviour, she does not appear to understand and replies with unintelligible words. For the last 3 years, she has been having subtle early morning body jerks and has been told by her teachers that she frequently stares and seems inattentive in class.
status epilepticus
A 16-year-old boy presents to the emergency department with a first-time seizure event after attending an all-night party and consuming alcohol. Witnesses described the seizure as beginning abruptly with bilateral limb stiffening, followed by jerking movements in all limbs; the patient has no memory of warning symptoms prior to the seizure. The event seemed to last about 1 minute, and the patient was quite somnolent afterwards. Further review of the history reveals that the patient has been experiencing ‘jerks’ in the morning after awakening, usually involving the arms and shoulders and occasionally causing him to drop things. These ‘jerks’ do not seem to present a problem during the rest of the day.
generalised tonic clonic seizure
A 55-year-old woman recently diagnosed with a brain tumour in the left hemisphere has a witnessed seizure event. The seizure is initially recognised when the patient begins staring and is unresponsive to those around her. She seems to be picking at her clothes with her left hand, but the right arm and leg are not moving. After 20 seconds, she displays rapid head-turning and eye deviation to the right, with tonic extension of the right arm and flexion of the left arm. This is quickly followed by tonic extension of the left arm as well, then clonic jerking occurring in both arms synchronously. This jerking gradually slows and stops after about 30 seconds. The patient then becomes quite somnolent, and she appears to be using her arm and leg less on the right than the left.
generalised tonic clonic seizure
A 6-year-old female without a significant past medical history presents for evaluation of frequent unusual episodes for the past 3 months. The unusual episodes consist of sudden activity arrest with staring and minimal eyelid flutter for 10 to 20 seconds occurring 5 to 10 times per day. The patient is unresponsive to voice or tactile stimulation during the episodes. She is able to immediately resume activities without any recollection of the event once the episode finishes. Her teachers have noted that she stares off in class repeatedly and does not seem to be remembering instructions and classroom material. The diagnosis of attention-deficit/hyperactivity disorder had been suggested. One such unusual episode is induced in front of medical staff with hyperventilation.
absence seizure
An 18-year-old girl presents with several episodes of confusion over the past several months. Typically, she experiences a warning signal, which she describes as a rising sensation within her abdomen that travels upwards through her chest. She is usually unaware for a few minutes, but others have told her that she smacks her lips, picks at her clothing, and is unable to speak during these episodes. After the event she feels tired, has a headache, and prefers to lie down. She notes that her memory has not been as good as it was in the past, and her school grades have declined. Her past medical history is notable for several febrile seizures as a young child, although she was not treated for seizures at that time. An aunt was diagnosed with seizures many years ago.
focal seizure
A 70-year-old man presents with a generalised tonic-clonic seizure. His wife states that during the past month there have been times when he does not respond, mumbles words that do not make sense, and stares. After several minutes he is usually responsive. His past medical history includes hypertension and hypercholesterolaemia. He had a stroke during the preceding year. Although he recovered significantly, he still walks with a limp on the left side.
focal seizure
A 53-year-old black woman complains of a sudden, excruciating headache while sitting at work. The headache is diffuse, intense, and accompanied by nausea and vomiting. She describes the headache as the worst headache of her life. She loses consciousness following onset of the headache and is on the floor for less than 1 minute. She is being treated for hypertension and is a smoker. On examination she has a normal mental state, meningismus, bilateral subhyaloid haemorrhages, and right third cranial nerve palsy. There are no sensory deficits or weakness.
SAH
Brain computed tomography (CT) reveals diffuse subarachnoid blood in basal cisterns and sulci.
A 20-year-old woman with no significant past medical history presents with lower back pain and bilateral foot and hand tingling. Her symptoms rapidly progress over 4 days to include lower extremity weakness to the point that she is unable to mobilise her lower extremities. She reports coryzal symptoms 2 weeks ago. On examination, she has 0/5 power in her lower extremity with areflexia, but despite the paraesthesias she does not have sensory deficits. Her aminotransferases are elevated, and lumbar puncture reveals mildly elevated protein with no cells and normal glucose. She weighs 70 kg and her admission vital capacity is 1300 mL, maximum inspiratory pressure is -30 cmH₂O, and maximum expiratory pressure is 35 cmH₂O.
GBS
A 75-year-old man presents with problems walking that have developed over the previous 2 years, consisting of slow gait, imbalance (especially on turning), short stride length, and gait initiation failure. He reports urinary frequency, occasional urge incontinence, and some memory loss. On examination, his symptoms are symmetrical and much more prominent in the lower half of the body, with relative sparing of hand function, and normal facial expressiveness. He has previously been diagnosed with Parkinson’s disease; however, therapy with levodopa has not improved his symptoms.
hydrocephalus
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.
meningitis - bacterial
A 19-year-old man presents with a 2-day history of headache and associated nausea. He says that bright light hurts his eyes. He has no significant past medical history, is not currently taking any medicine, and reports no drug allergies. He works as a librarian and has not travelled overseas for the past year. He lives with his girlfriend whom he has been seeing for 2 years. They have a pet hamster.
viral meningitis
A 40-year-old man complains of a 1-year history of twice-monthly global headache, worse on the left side in the post-auricular region. It comes on gradually and, at its most severe, the vision in his left eye becomes distorted. He often has to stop watching television as the picture becomes “blurry”. His nose becomes blocked, although sometimes he has a “runny nose”. He takes a non-steroidal anti-inflammatory drug (NSAID) that helps a little, but he feels that his head is about to explode at times. When the headache occurs, he needs to go into a dark quiet room and sleep until it resolves. He reports that the problem is “really getting him down”, and he is having difficulties with his employer due to loss of work time.
migraine
A 32-year-old woman presents with a 13-year history of 1 to 3 attacks per month of disabling pounding pain over one temple, with nausea and sensitivity to light. She says that her headaches can be triggered by lack of sleep and made worse by physical exertion, and are more common during menstrual bleeding. Untreated, they last for 2 days. On 4 occasions, headaches were preceded by the gradual appearance of a shimmering, zigzag line that enlarged, moved to the peripheral visual field, and then faded away over 45 minutes. Examination is normal.
migraine
A 60-year-old man presents with right foot drop, which has developed gradually over the last year and progressed to involve more proximal areas in the last 2 months. The patient reports associated muscle twitching and painful muscle cramps involving the same areas. The neurological examination reveals bilateral lower-extremity weakness, more severe on the right, with associated spasticity, atrophy of the right foot intrinsic muscles, diffuse fasciculations, and hyper-reflexia, with deep tendon reflexes being brisker on the right lower extremity, and a positive right Babinski’s sign. Sensation is preserved throughout. Several other family members have been diagnosed (some have died) with a pattern suggesting autosomal dominant disease
ALS
A 65-year-old woman presents with progressive slurred speech with nasal quality, and episodes of choking on liquids, for the last 4 to 5 months. Neurological examination reveals facial and tongue weakness; tongue muscle wasting and fasciculations; dysarthria; hypophonic speech; and brisk reflexes throughout (including jaw jerk).
ALS
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.
MS
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.
MS
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.
MG
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.
MG
A 40-year-old man with a history of alcohol abuse is brought to the emergency department by police, who found him lying down by the side of the street. On examination he is somnolent and confused. He has a horizontal gaze palsy with impaired vestibulo-ocular reflexes and severe truncal ataxia in the presence of normal motor strength and muscle stretch reflexes.
Wernickes encephalopathy
A 30-year-old woman underwent bariatric surgery for morbid obesity. The postoperative course was complicated by a bronchopneumonia, vomiting, and poor oral intake. Four weeks after surgery she complained of vertigo and headache and soon became apathetic and developed vertical nystagmus that was worse on downward gaze.
Wernickes encephalopathy
A middle-aged woman presents with a complaint of frequent (once or twice daily for 3 weeks), brief (lasting several seconds) episodes of intense, sharp left-sided jaw pain. She has experienced these attacks for several years, but they had previously been relatively rare (1 episode daily for several consecutive days followed by months with no attacks). She says that episodes are sometimes brought on by eating but can occur without an apparent stimulus. The patient states that even though the pain is brief, she lives in fear of repeat flares.
trigeminal neuralgia
A 67-year-old man with a prior history of hypertension, diabetes, hyperlipidaemia, and a 50 pack-year smoking history noted rapid onset of right-sided weakness and subjective feeling of decreased sensation on his right side. His family reported that he seemed to have difficulty forming sentences. Symptoms were maximal within a minute and began to spontaneously abate 5 minutes later. By arrival in the emergency department 30 minutes after onset, his clinical deficits had largely resolved with the exception of a subtle weakness of his right hand. Forty minutes after presentation, all of his symptoms were completely resolved.
TIA
A 37-year-old woman presents with a 12-year history of episodic headaches. She experiences these 4 times a week, typically beginning at the end of a working day. The pain is generalised and described as similar to wearing a tight band around her head. The headaches are bothersome, but not disabling, and she denies any nausea or vomiting. She is slightly sensitive to noise but has no photophobia. Pain during her attacks typically responds to ibuprofen. Examination reveals tenderness of her scalp and both trapezius muscles.
tension type headache
A 25-year-old man presents to the emergency department after an automobile accident. He was ejected from the vehicle. He complains of numbness in both lower extremities and cannot move his legs. There is no pinprick sensation below the umbilicus except for an anal wink, and there is no rectal tone. The bulbocavernosus reflex is weakly present. Power in the lower extremities is graded at 1/5.
SC compression
A 40-year-old woman presents with back pain and difficulty with her gait. She has a long history of smoking and has had some haemoptysis recently. Her examination reveals diminished pinprick sensation from the nipple line caudally, power in the lower extremities of 4/5, absent joint position sense in the lower extremities, and diminished vibratory sense. Anal sphincter tone is intact.
SC compression
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.
NF1
A 69-year-old man presents with a 1-year history of mild slowness and loss of dexterity. His handwriting has become smaller, and his wife feels his face is less expressive and his voice softer. Over the last few months he has developed a subtle tremor in the right hand, noted while watching television. His symptoms developed insidiously but have mildly progressed. He has no other medical history, but he has noted some mild depression and constipation over the last 2 years. His examination demonstrates hypophonia, masked facies, decreased blink rate, micrographia, and mild right-sided bradykinesia and rigidity. An intermittent right upper extremity resting tremor is noted while he is walking. The rest of his examination and a brain MRI are normal.
parkinsons
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.
Huntingdons
A 70-year-old right-handed man is discovered by a family member to have difficulty speaking and comprehending spoken language, and an inability to raise his right arm. He was last known to be fully functional 1 hour ago when the family member spoke to him by phone. There is a history of treated hypertension and diabetes.
Ischaemic stroke
A 70-year-old man with a history of chronic hypertension and atrial fibrillation is witnessed by a family member to have nausea, vomiting, and right-sided weakness as well as difficulty speaking and comprehending language. The symptoms started with only mild slurred speech before progressing over several minutes to severe aphasia and right arm paralysis. The patient is taking warfarin.
Haemorrhagic stroke
A 76-year-old white woman is brought to her general practitioner by her children because she is becoming more forgetful. She used to pay her bills independently and enjoyed cooking but has recently received overdue notices from utility companies and found it difficult to prepare a balanced meal. She has lost 3.5 kg in the past 3 months, and left the water running in her bathtub and flooded the bathroom. When her children express their concerns, she becomes irritable and resists their help. Her house has become more cluttered and unkempt. On a past visit to her physician, she had normal laboratory tests for metabolic, haematological, and thyroid function. The current evaluation reveals no depressive symptoms and 2/15 on the Geriatric Depression Scale short-form. Her Mini-Mental State Examination score is 20/30.
alzheimers demential
A 55-year-old man who worked as a technician developed difficulty finding words 2 years earlier, which has evolved into dysfluency, frequent repetition of remarks and questions, stereotypies (purposeless behaviours or fragments of speech frequently repeated, without regard to context), and echolalia (reflexive repetition of another’s speech). In the past year, he has also become forgetful. His work efficiency deteriorated due to his poor comprehension, reasoning, planning, and completion, resulting in disability leave. He also became unfeeling, intrusive (indiscriminately approaching strangers), child-like, and impulsive. He developed rigid routines (e.g., insistence on the same TV shows) and coarse manners (e.g., eating out of serving bowls, jumping queues, and walking away from conversation). Restlessness is marked: each day he bikes, swims many laps, runs 10 km, and ‘volunteers’ at a local nursing home, making the rounds with all maintenance crews. On examination, he is pleasant and cooperative. Given opportunity, he quizzes the examiner on trivial facts (such as listing capital cities). Depression is not evident, and he does not have euphoria, psychosis, or paranoia. Speech is mildly non-fluent. Verbal fluency is impaired. Mini-mental state examination score is 29.
FT dementia
A 65-year-old man presents with difficulty in decision-making and planning, which is of abrupt onset and occurs 3 months after a stroke. He has strong vascular risk factors, including smoking. Over time, there has been a fluctuating stepwise reduction in cognitive function. There is a history of nocturnal confusion and incontinence. On examination there is evidence of focal neurological deficit with pseudobulbar palsy and extrapyramidal signs. Neuroimaging indicates a probable vascular aetiology with white matter changes and infarction.
vascular dementia
A 78-year-old woman presents with confusion, agitation, and visual hallucinations. She has become progressively confused over the past 2 years and has had trouble managing her affairs, including shopping and paying bills. It is unclear when her confusion started. Initially, she was having trouble following conversations and got lost on several occasions. Her memory, which was previously good, has begun to deteriorate. At night, she sees children playing in her house and has called the police on several occasions. She gets angry easily and has been paranoid about her relatives and their intentions. Her behaviour tends to fluctuate from day to day. She started to shuffle about 6 months ago and had difficulty getting out of chairs, and getting dressed to go out seemed to take hours. On one occasion, she fell and was taken to the emergency department but was subsequently discharged with no diagnosis given.
Lewy body dementia
A 65-year-old man presents with generally decreased vision and difficulty driving at night due to glare from oncoming headlights. He describes having trouble reading the small print on his television screen. He is healthy and has no history of any other eye problems. His best corrected visual acuity is noted to be 20/50 in the right eye and 20/40 in the left eye. On examination, a yellowish opacification of the lens in the left eye is noted. On ophthalmoscopy, the red reflex in the left eye is obscured centrally, and the details of the fundus are indistinct. No other abnormalities are found.
cataracts
A 27-year-old man presents following an incident where he was struck in the left eye with a paint ball. He notices a sudden decrease in vision in the left eye, from 20/20 before the accident, to counting-fingers vision after the accident. On examination, the left pupil appears whitish, and visual acuity is greatly decreased. The patient does not have any history of other medical problems. On dilated eye examination, the lens in the left eye appears whitish anteriorly, with a spoke-like pattern. On direct ophthalmoscopy, the red reflex is diminished and retinal details are indistinct.
cataracts
A 50-year-old woman, who has no eye symptoms, is found during routine ophthalmic examination to have elevated intraocular pressure of 42 mmHg in both eyes. Funduscopy shows that the optic nerve head appears normal, with no evidence of glaucomatous neuropathy. Gonioscopy shows that the anterior chamber angles are closed for almost the full circumference.
Angle closure glaucoma
A 64-year-old woman presents to the emergency department with severe pain around her right eye of 4-hour duration, accompanied by blurred vision in that eye. She is also nauseated. Examination shows a red right eye with oedematous cornea and a wide pupil that is unresponsive to light. Intra-ocular pressure is extremely elevated (60 mmHg), only in the right eye. The anterior chamber angle is closed in both eyes.
Angle closure glaucoma
A 50-year-old man presents for a routine eye examination with no symptoms. He has elevated intra-ocular pressure of 25 mmHg in the right eye and 30 mmHg in the left eye. On dilated examination, the cup-to-disc ratio is 0.5 in the right eye and 0.8 in the left eye. Corneal thickness and gonioscopy are normal. Subsequent automated testing of visual fields demonstrates peripheral visual field loss greater in the left eye than in the right. Repeated automated visual field testing shows that the visual field defects are reproducible.
open angle glaucoma
A 40-year-old man presents to the emergency department complaining of red eye without purulent discharge. He also has pain, photophobia, blurred vision, and tearing. On slit-lamp examination, the attending ophthalmologist notices a small irregular pupil, conjunctival injection around the corneal limbus, and WBCs in the anterior chamber.
uveitis
A 30-year-old woman presents with onset of bilateral decreased vision associated with floaters. Slit-lamp examination of the anterior segment shows no abnormality. However, on dilated fundoscopic examination, vitreous cells and a choroiditis are apparent.
uveitis
A 65-year-old woman presents with a chief complaint of dizziness. She describes it as a sudden and severe spinning sensation precipitated by rolling over in bed onto her right side. Symptoms typically last <30 seconds. They have occurred nightly over the last month and occasionally during the day when she tilts her head back to look upwards. She describes no precipitating event prior to onset and no associated hearing loss, tinnitus, or other neurological symptoms. Otological and neurological examinations are normal except for the Dix-Hallpike manoeuvre, which is negative on the left but strongly positive on the right side.
BPPV
A 40-year-old woman presents with a 1-year history of recurrent episodes of vertigo. The vertigo spells are described as a sensation of the room spinning that lasts from 20 minutes to a few hours and may be associated with nausea and vomiting. The spells are incapacitating and are accompanied by dizziness, vertigo, and disequilibrium, which may last for days. No loss of consciousness is reported. The patient also reports aural fullness, tinnitus, and hearing loss in the right ear that is more pronounced around the time of her vertigo spells. Physical examination of the head and neck is normal. A horizontal nystagmus is noted. She is unable to maintain her position during Romberg’s testing or the Fukuda stepping test. She turns towards the right side and she is unable to walk tandem. Her cerebellar function tests are normal.
Menieres
A 6-year-old previously healthy boy presents with acute onset of fever of 39°C (102°F), severe throat pain that is exacerbated by swallowing, headache, and malaise. On examination his tonsils are symmetrically enlarged and red, with purulent exudate. He has multiple enlarged, painful anterior neck lymph nodes, but no other lymphadenopathy and no splenomegaly. He has no runny nose or cough, and no difficulty breathing.
tonsillitis
A 24-year-old woman presents with a 3-day history of painful sores in the genital area, dysuria, fever, and headache. She is sexually active with men and has a new partner within the past month. She does not use condoms. Physical examination reveals a temperature of 38.3°C (100.9°F), stable vital signs, slight nuchal rigidity (implying aseptic meningitis), bilateral tender inguinal lymphadenopathy, and multiple tender 1- to 2-cm erythematous ulcerations without labial crusts. The cervix is oedematous with pustules and clear discharge. Cervical motion tenderness is also present.
HSV inf
A 25-year-old man presents for STI screen. He is sexually active with men, has had four partners in the past year, and uses condoms ‘most of the time’. He was HIV-negative 6 months ago and denies a history of urethral discharge, dysuria, or genital ulcers. He does have occasional genital itching and mild sores on the penile shaft. Genitourinary examination reveals a circumcised male with no inguinal lymphadenopathy, no lesions on the penile shaft or perianal area, and no urethral discharge.
HSV inf
A 16-year-old student presents with fever, sore throat, and fatigue. She started feeling ill 1 week ago. Her symptoms are gradually getting worse, and she has difficulty swallowing. She has had a fever every day, and she could hardly get out of bed this morning. She does not remember being exposed to anybody with a similar illness recently. On physical examination she is febrile and looks ill. Enlarged cervical lymph nodes, exudative pharyngitis with soft palate petechiae and faint erythematous macular rash on the trunk and arms are found.
Infectious mono
A 42-year-old woman presents with bilateral breast pain of mild-to-moderate intensity. Pain is worse just before and improves a few days after the start of her menstrual period. Gynaecological history is significant for grava 2 para 2. She does not take an oral contraceptive. Physical examination of the breasts demonstrates diffuse nodularity throughout both breasts.
fibrocystic breasts
A 28-year-old woman in her second post-partum week presents with recent-onset breast pain and a tender wedge-shaped area in one breast that feels firm, warm, and swollen, and appears erythematous. She has decreased milk output, flu-like symptoms, pyrexia of 38°C (100.4°F), and myalgia, in addition to feeling fatigued.
Mastitis/breast abscess
A 30-year-old woman with a history of mastitis presents with sharp shooting breast pain and an exquisitely tender, swollen, red, and warm fluctuant peri-areolar breast mass.
Mastitis/breast abscess
A 65-year-old white woman presents to her doctor for a routine screening mammogram, which demonstrates a cluster of pleomorphic micro-calcifications that are located in the upper outer quadrant of her left breast. One year ago, her mammogram showed no abnormalities; the patient has been diligent in undergoing annual mammograms because her mother was diagnosed with breast cancer at the age of 50 years.
Breast cancer
A 17-year-old boy is brought to the hospital by the police owing to an overdose of unknown drugs after a fight with his girlfriend. Initial physical examination is unremarkable except for a BP of 149/99 mmHg and sinus tachycardia at a rate of 130 bpm. However, shortly after arrival in the emergency department, the patient seizes and requires intubation. Serum electrolyte panel and ABG analysis reveal a wide anion-gap metabolic acidosis. Screen for drugs of abuse and alcohol is negative. The patient is found to have a serum salicylate level of 94.8 mg/dL.
aspirin overdose
A 48-year-old woman presents to the emergency department with vague complaints of feeling unwell over the past several days. She reports generalised body pains and consequently has taken Goody’s powder, paracetamol, diphenhydramine, and several other cold preparations over the past 72 hours. Since the night before presentation, she appeared confused and provided vague responses to questions. In addition, she cannot understand that she has been ingesting multiple medications that included the same chemical. On physical examination, she is noted to have hyperpnoea. Laboratory investigations reveal a serum bicarbonate level of 9 mmol/L and a salicylate level of 50.6 mg/dL.
aspirin overdose
A 21-year-old man presents to the emergency department with central nervous system depression, respiratory depression, and miosis (1 mm pupils). Friends state that the patient was seen injecting himself at a party, at which time he became unresponsive. He is deeply unresponsive to pain and gives no history. The patient is a known drug user. He has track marks on both upper extremities and syringes are found among his belongings.
opiod overdose
A 38-year-old woman presents with nausea and pain from a tooth abscess. On further questioning she states that she has been ingesting small handfuls of paracetamol-containing pills every few hours over the previous 2 to 3 days.
paracetamol OD
A 30-year-old woman presents with 4-month history of recurrent oral and genital ulcers. She gets the oral ulcers every other week, >5 at a time, and they resolve on their own in 7 to 10 days. They cause discomfort and occur in the inner lips and cheeks and on her tongue. The genital ulcers are fewer in number and not always painful. She has also noticed acne on her legs and on her back, but not on her face, although she never had any facial acne as a teenager. She has also had 2 episodes of painful, red, round lesions on her legs. These resolved without treatment after 1 week.
Bechets
A 28-year-old man presents with a 2-month history of eye pain and blurring of vision that has been getting worse over the last several weeks. Both of his eyes are involved. He also complains of recurrent oral and genital ulcers that have been bothering him for the last 5 months. He has had facial acne for some time, but now is getting acne on his back, upper arms, and legs.
Bechets
A 14-year-old girl presents in severe respiratory distress to the emergency department. Her past medical history includes asthma and a peanut and tree nut allergy. Shortly after ingestion of a biscuit in the school cafeteria, she began complaining about flushing, pruritus, and diaphoresis followed by throat tightness, wheezing, and dyspnoea. The school nurse called an ambulance. No medications were administered and the patient did not have an epinephrine (adrenaline) auto-injector prescribed by her allergist. Her physical examination reveals audible wheezing and laryngeal oedema and an oxygen saturation of 92%.
anaphylaxis
A 65-year-old man reports being stung while working in his garden. He removed the sting and found the dying bee. In the past he tolerated insect stings on several occasions without reaction. On this occasion, within minutes, he experienced flushing, sweating, and a brief loss of consciousness. Too confused to call for help, he was found 10 minutes later by his wife. On arrival of an ambulance he was rousable, without respiratory distress or rash. Systolic BP was 75 mmHg and pulse rate was 55 bpm.
anaphylaxis
A 26-year-old female bank clerk is 24 weeks pregnant and is offered an HIV rapid test as part of her antenatal care. Her test is positive and confirmed on a second rapid test. She is referred for general HIV care. At the HIV clinic she explains that she has been very well with only pregnancy-related nausea and mild fatigue. This is her first pregnancy. On examination, she looks well, with mild generalised lymphadenopathy only. She has been married for 2 years and had only 1 sexual partner in the last 4 years. An HIV test at 20 years of age was negative. A CD4 count is performed and she is staged as WHO stage 1. She receives counselling regarding risks to her unborn child and information about prevention of mother-to-child transmission. She has not yet disclosed her status to her partner and needs assistance with this, as well as further information about positive living and initiation of antiretroviral therapy.
HIV
A 32-year-old male taxi driver was found to be HIV-infected during a recent hospitalisation for a pneumonic illness. Compatible chest x-ray findings and confirmatory sputum culture were positive for Mycobacterium tuberculosis , resulting in a diagnosis of pulmonary tuberculosis (TB). In consideration of this diagnosis, the patient had agreed to HIV testing in the hospital. HIV serology was positive by rapid HIV testing and this was confirmed on a second blood specimen. The patient was informed of the diagnosis and referred for outpatient care. In the outpatient clinic, history obtained from the patient confirmed some months of deteriorating health. He had lost approximately 10 kg in weight and had experienced fevers, night sweats, loss of appetite, and intermittent bouts of diarrhoea. In addition, 4 weeks prior to admission he had developed a productive cough and pleuritic chest pain. He had also noted a scaly skin condition at the hair line. His medical history is non-significant, but he nursed his mother with TB approximately 6 years ago. His current medicine includes anti-tuberculous therapy and pyridoxine. He has recently completed 1 week of topical mycostatin for oral candidiasis. On examination he is thin, with evidence of oral thrush and mild seborrhoeic dermatitis. He has mild bronchial breathing in his right upper chest, with mild tracheal deviation to the right. His neurological, cardiovascular, and abdominal examinations are normal. A CD4 count performed while the patient was still in the hospital was 186 cells/microlitre. He was clinically staged, based on history and findings, as World Health Organization (WHO) stage 3. A baseline viral load, full blood counts, and liver function tests are ordered prior to initiation of antiretroviral therapy. The patient discloses that he is married and has 3 children aged 6 years, 4 years, and 13 months. They are all well. Implications for testing the family for HIV are discussed with the patient.
HIV
A 42-year-old Nigerian woman presents to her primary care physician with a 2-day history of fever, chills, and sweats with associated headache and myalgia. She is febrile (38.6°C [101.4°F]) and tachycardic, but examination is otherwise unremarkable. A presumptive diagnosis of influenza is made, and she is advised to return if she does not improve. Two days later she presents to the emergency department with similar symptoms and frequent vomiting. On examination she appears ill, with a temperature of 38.8°C (101.8°F), pulse rate 120 beats per minute, blood pressure 105/60 mmHg, and mild jaundice. Further history reveals that she recently visited family in Nigeria for 2 months, returning 1 week before presentation. She did not take malaria prophylaxis.
Malaria
A 28-year-old man presents to his physician with a 5-day history of fever, chills, and rigors, not improving with paracetamol (acetaminophen), along with diarrhoea. He had been travelling in Central America for 3 months, returning 8 weeks ago. He had been bitten by mosquitoes on multiple occasions, and although he initially took malaria prophylaxis, he discontinued it due to mild nausea. He does not know the specifics of his prophylactic therapy. On examination he has a temperature of 38°C (100.4°F), and is mildly tachycardic with a blood pressure of 126/82 mmHg. The remainder of the examination is normal.
Malaria
A 35-year-old woman is admitted to hospital because of pain and swelling of the right thigh. The patient has been in excellent health until the morning before admission, when she observed a pimple on her right thigh. During the course of the day, the lesion enlarged, with increasing pain, swelling, and erythema, and was accompanied by nausea, vomiting, and delirium. Her temperature is 37.5°C (99.5°F), pulse is 128 bpm, and respirations are 20 breaths/minute. BP is 85/60 mmHg. On physical examination, the patient appears ill and in pain. A small, indurated area of skin breakdown with surrounding erythema and warmth is present on the right thigh; no fluctuance is detected. She is unable to flex or extend the right hip because of pain and reports pain on passive extension of the right ankle. The temperature soon rises to 38.4°C (101°F), and the BP drops to 70/40 mmHg. Haematocrit is 42, WBC count 5900/mm³ (with 64% neutrophils, 19% band forms), serum creatinine 168 micromol/L (1.9 mg/dL), and serum urea 7.8 millimol/L (22 mg/dL). Contrast-enhanced CT shows a diffuse, non-enhancing, honeycomb pattern within the subcutaneous tissue of the right thigh. Subcutaneous stranding and thickening of the skin are prominent in the posterolateral aspect of the thigh; there is also thickening of the posterolateral deep fascia.
necrotising fasciitis
A 10-year-old Samoan girl presents with a 2-day history of fever and sore joints. Further questioning reveals that she had a sore throat 3 weeks ago but did not seek medical help at this time. Her current illness began with fever and a sore and swollen right knee that was very painful. The following day her knee improved but her left elbow became sore and swollen. While in the waiting room her left knee is now also becoming sore and swollen.
rheumatic fever
A 31-year-old woman presents with a 1-week history of fever, chills, fatigue, and unilateral ankle pain. Her past medical history includes mitral valve prolapse and hypothyroidism. She admits to infrequent intravenous heroin use and has a 10-pack-year history of smoking. Physical examination reveals temperature of 39°C (102°F), regular heart rate 110 beats per minute, blood pressure 110/70 mmHg, and respiration rate of 16 breaths per minute. Her cardiovascular examination reveals a grade 2/4 holosystolic murmur that is loudest at the right upper sternal border. Her right ankle appears red and warm, and is very painful on dorsiflexion.
Infective Endocarditis
A 65-year-old male smoker with hypertension, dyslipidaemia, and diabetes mellitus presents with chest pain. ECG changes suggest an acute myocardial infarction. He is taken for an urgent coronary angiogram. Three days later, he is noticed to have developed an elevated serum creatinine, oliguria, and hyperkalaemia.
AKI
A 35-year-old man with a history of congenital valvular heart disease undergoes a dental procedure without appropriate antibiotic prophylaxis. Several weeks later, he presents with fever and respiratory distress. He is intubated, and Streptococcus viridans is isolated in all blood cultures drawn at the time of admission. Echocardiography demonstrates a mitral valve vegetation. Laboratory tests reveal a rising serum creatinine and urine output decline. Urine analysis reveals more than 20 white blood cells, more than 20 red blood cells, and red cell casts. Urine culture is negative. Renal ultrasound is unremarkable. Serum erythrocyte sedimentation rate is elevated.
AKI
A 60-year-old man presents to his primary care physician with a 3-month history of increasing urinary frequency without burning and nocturia 3 times each evening. He has limited his fluid consumption and caffeine intake in the evening without much benefit. There is no personal or family history of prostate cancer. Examination demonstrates no suprapubic mass or tenderness. A rectal examination demonstrates normal rectal tone and a moderately enlarged prostate without nodules or tenderness.
BPH
A 72-year-old man presents with a 6-month history of weak stream, straining, and hesitancy. There is no history of prostate cancer. The physical examination demonstrates a severely enlarged prostate without nodules. There is moderate suprapubic fullness prior to voiding. A urinalysis is normal and the prostate-specific antigen level is 3.0 micrograms/L (3.0 nanograms/mL).
BPH
A 64-year-old man presents with painless haematuria. He had a similar episode 1 year ago and was given antibiotics for a presumed urinary infection and his bleeding resolved. He has a decreased urinary stream and nocturia twice a night. He has smoked a pack of cigarettes daily for 45 years. Physical examination shows only moderate enlargement of the prostate. Urinalysis is positive for 10 to 15 RBCs and 5 to 10 WBCs per high-power field with no bacteria detected.
bladder cancer
A 54-year-old man with a 10-year history of diabetes and hypertension, with complications of diabetic retinopathy and peripheral neuropathy, presents to his primary care physician with complaints of fatigue and weight gain of 4.5 kg over the past 3 months. He denies any changes in his diet or glycaemic control, but does state that he has some intermittent nausea and anorexia. He states that he has noticed that his legs are more swollen at the end of the day but improve with elevation and rest. Physical examination reveals an obese man with a sitting blood pressure of 158/92 mmHg. The only pertinent physical examination findings are cotton wool patches and micro-aneurysms bilaterally on fundoscopic examination and pitting, bilateral lower-extremity oedema.
CKD
A 21-year-old man presents with a 3-day history of worsening left-sided scrotal pain and swelling. He reports noticing a white urethral discharge over the last 24 hours. He is otherwise fit and well, and takes no regular medicine. He is heterosexual and has a single female partner, with whom he has unprotected intercourse. Examination reveals a tender, erythematous, swollen left hemiscrotum with a palpably thickened epididymis.
epididymitis
A 74-year-old man with a known history of benign prostatic enlargement and insulin-requiring type 2 diabetes presents with a 7-day history of worsening right-sided scrotal pain and swelling. Initial symptoms of dysuria and frequency have resolved since his family doctor prescribed a course of antibiotics 4 days ago. Examination reveals a tender, swollen right epididymis with an associated hydrocele.
epididymitis
A 35-year-old man with no past medical history presents to the emergency department after he noted cola-coloured urine. He denies pain or fever associated with the bleed, but has had a sore throat for the past 3 days, which is getting better. He has not had a similar episode previously. Examination reveals a non-blanching purpuric rash over both his legs. There are no other abnormalities.
glomerulonephritis
A 42-year-old man with a medical history of HIV infection presents to his general practicioner with generalised swelling progressive for the past week. HIV was diagnosed a year ago and he has been non-compliant with the therapy prescribed. He denies orthopnoea, abdominal pain, nausea, and blood in his urine. He has non-pitting oedema mostly over the lower extremities but extending up to mid-abdomen.
glomerulonephritis
A 12-month-old boy presents to his primary care physician with a right scrotal mass. The mass is smaller in the morning than in the evening and increases significantly in size during crying. It gets smaller again when he is lying down. He has no gastrointestinal or urinary symptoms. Physical examination demonstrates normal findings on the left side of the scrotum and a non-tender soft swelling on the right side. The mass is transilluminated when a light is shone on the scrotum, suggesting it is fluid-filled. The right testicle is palpable after gentle pressure reduces the swelling.
hydrocele
A 30-year-old woman with a family history (i.e., father, aunt, and grandfather) of polycystic kidney disease (PKD) comes to the renal clinic for evaluation. She denies any history of flank pain, pyelonephritis, or haematuria, but reports having had 2 urinary tract infections (UTIs) over the last year. She is contemplating having a family in the near future. She was recently screened for this disease with an abdominal ultrasound. This showed several small echogenic foci and small cystic changes in the liver. Several bilateral kidney cysts were seen (with the largest measuring 3.2 cm), and an adjacent renal calculus. She denies any history of migraines or headaches. There is no family history of aneurysms or cerebrovascular events. She had an ambulatory blood pressure (BP) monitor study performed prior to her evaluation revealing normal BP. Her examination is completely normal.
PKD
A 40-year-old man discovered that he had PKD about 15 years ago when he had renal colic. He was found to have bilateral stones at the time and was treated with lithotripsy. A stone was analysed. He thinks it was a uric acid stone but is not sure. He has had no further renal colic or passage of stones since that time. About 10 years ago, he developed hypertension that has been treated since with adequate control, by his account. He denies having had any UTIs. He had repair of a left inguinal hernia when he was a teenager. Recently, he had a bout of gross painless haematuria lasting 3 days and went to the emergency department for evaluation. A computed tomography (CT) scan was performed, which showed no change in his polycystic kidneys compared with findings on a CT scan 1 year prior. Over the last several years, he has experienced increasing abdominal girth and has developed early satiety and dyspnoea on exertion. He denies any mechanical low back pain.
PKD
A 65-year-old white man presents to his general practitioner in his normal state of health. He describes nocturia (1 episode per night) and a 3-hour daytime voiding interval. He denies any incontinence, haematuria, dysuria, frequency, or urgency. He has no gastrointestinal complaints. Physical examination reveals his prostate to be smooth and symmetrical, with an approximate volume of 40 mL.
prostate cancer
A 60-year-old black man presents to his general practitioner with complaints of difficulty with urination. He describes a weak stream and a sense of incomplete voiding. He describes nocturia (5 episodes per night) and has been taking an alpha-blocker for this with minimal improvement. He says he can last about 60 to 90 minutes without urinating. He denies any suprapubic tenderness, dysuria, or haematuria. He further denies any back pain or gastrointestinal complaints. Rectal examination reveals his prostate to be approximately 60 mL, asymmetrical, with a large 2-cm nodule at the right base.
prostate cancer
A 68-year-old man with known coronary artery disease and peripheral vascular disease presents with recurrent episodes of flash pulmonary oedema, worsening kidney function, and progressively difficult-to-control hypertension. An angiogram of the aorta and renal arteries shows a sclerotic aorta with plaque extending into the proximal third of both renal arteries.
RAS
A 32-year-old woman with no prior medical history is seen for worsening headache and is found to have a BP of 180/110 mmHg. Her BP responds inadequately to thiazide diuretics and calcium-channel blockers. A magnetic resonance angiogram of the renal arteries reveals a beaded appearance indicative of fibromuscular dysplasia.
RAS
A 56-year-old obese woman presents to the emergency department with a history suggestive of biliary colic, including epigastric discomfort after a heavy meal. Her past medical history includes cholelithiasis, hypertension (treated with an angiotensin-converting enzyme [ACE] inhibitor), and dyslipidaemia (treated with a statin). She is an ex-smoker, drinks alcohol socially, and has no significant family history. On palpation of her abdomen, she has RUQ pain, but there are no other relevant findings on examination. An abdominal ultrasound is performed, which demonstrates the presence of gallbladder stones without obstruction, and an incidental 5-cm, left-sided renal mass.
Renal cell carcinoma
A thin 65-year-old man with no significant past medical history presents with a 5-month history of right-sided flank discomfort and abdominal fullness. He finally seeks medical attention because of 2 weeks of lower extremity oedema, and 4 days of gross haematuria with clots. On examination, his blood pressure is 160/90 mmHg, heart rate is 120 bpm and regular, and he is afebrile. He is found to have a palpable right-sided lower abdominal mass, and pitting oedema to the mid-shins bilaterally, which is worse on the right.
Renal cell carcinoma
A 35-year-old man presents with non-specific testicular discomfort and the feeling of a mass in the testis. On examination, a 2 cm by 1 cm smooth, painless mass is palpated in the right testis. The mass does not transilluminate with light. There is no lymphadenopathy.
testicular cancer
A 13-year-old boy developed sudden-onset unilateral scrotal pain that woke him from sleep. He presents with left scrotal pain, nausea and vomiting, and left lower abdominal pain. On examination, he has a tender, enlarged, high-riding left testicle with a transverse lie. There is an absent cremasteric reflex on the left.
torsion
A 27-year-old, healthy, sexually active woman presents with pain on urination and recent onset of urinary frequency and urgency. She has no costovertebral angle tenderness on examination.
UTI
A 59-year-old man complains of urinary frequency, urgency, and dysuria for several days. He denies the presence of haematuria or penile discharge, but does have 3 episodes of nocturia most nights. His past medical history includes benign prostatic hyperplasia (BPH). The patient is in a monogamous relationship with his wife.
UTI
A 45-year-old man presents to the emergency department with a 1-hour history of sudden onset of left-sided flank pain radiating down towards his groin. The patient is writhing in pain, which is unrelieved by position. He also complains of nausea and vomiting.
renal stone
A 15-year-old boy presents with left scrotal swelling/mass detected on a routine school physical examination. The patient states that he is completely asymptomatic. There is no significant medical history and he has not had any previous surgeries. He is on no medicines and has no allergies. Physical examination in the supine position reveals asymmetrical testicular size (left smaller than right) with no masses. With the patient in the standing position, a grade III left varicocele can clearly be seen and palpated in the left hemiscrotum.
varicocele
A 30-year-old healthy man presents with primary infertility. He has been unable to establish a pregnancy for the last 12 months with his partner. On physical examination, a grade II left varicocele is easily palpable when the patient is standing and is non-palpable when supine. The testicles are symmetrical and normal in size.
varicocele
A 47-year-old man presents with arthritic pain of knees and hips, soft-tissue swelling, and excessive sweating. He also noticed progressive enlargement of the hands and feet. He has been taking antihypertensive medicine for the past 3 years. On physical examination, he has coarse facial features with prognathism and prominent supra-orbital ridges. The tongue is enlarged and the fingers are thickened. His wife complains that he frequently snores. Laboratory work-up reveals an elevated plasma insulin-like growth factor 1 (IGF-1) concentration of 73 nanomols/L (560 micrograms/L or 560 nanograms/mL) (normal for age, 16 to 31 nanomols/L [120 to 235 micrograms/L or 120 to 235 nanograms/mL]) and a basal plasma growth hormone level of 15 micrograms/L (15 nanograms/mL). MRI examination of the sella turcica region shows a 14 mm pituitary mass with right cavernous sinus invasion.
acromegaly
A 48-year-old man has a 4-month history of increasing fatigue and anorexia. He has lost 5.5 kg and noticed increased skin pigmentation. He has been otherwise healthy. His mother has Hashimoto’s thyroiditis and one of his sisters has type 1 diabetes. His blood pressure is 110/85 mmHg (supine) and 92/60 mmHg (sitting). His face shows signs of wasting and his skin has diffuse hyperpigmentation, which is more pronounced in the oral mucosa, palmar creases, and knuckles.
Addisons
A 54-year-old woman with hypothyroidism complains of persistent fatigue, despite adequate thyroxine replacement. She has noticed increasing lack of energy for the past 3 months and additional symptoms of anorexia and dizziness. She also has significant loss of axillary and pubic hair. Her blood pressure is 105/80 mmHg (supine) and 85/70 mmHg (sitting). The only abnormal finding on physical examination is a mild increase in thyroid size, with the thyroid having rubbery consistency.
Addisons
A 12-year-old white girl is brought to the emergency department by her parents due to 12 hours of rapidly worsening nausea, vomiting, abdominal pain, and lethargy. Over the last week she has felt excessively thirsty and has been urinating a lot. Physical examination reveals a lean, dehydrated girl with deep rapid respirations, tachycardia, and no response to verbal commands.
T1D
An overweight 55-year-old woman presents for preventative care. She notes that her mother died of diabetes, but reports no polyuria, polydipsia, or weight loss. BP is 144/92 mmHg, fasting blood sugar 8.2 mmol/L (148 mg/dL) (on 2 occasions), HbA1c 65 mmol/mol (8.1%), LDL-cholesterol 5.18 mmol/L (200 mg/dL), HDL-cholesterol 0.8 mmol/L (30 mg/dL), and triglycerides 6.53 mmol/L (252 mg/dL).
T2D
A 60-year-old man presents with a 3-year history of diarrhoea, with no clear precipitating factors. Over the past few months he has noticed flushing affecting his face. These episodes occur at any time but are worse during times of stress and exercise. His wife has also noticed intermittent reddening of his face, which lasts for a few minutes. More recently he has not tolerated alcohol, chocolate, or bananas.
carcinoid
A 50-year-old woman presents with a long history of atypical flushing, initially attributed to menopause. The flushing is associated with purplish discolouration of the face with each episode lasting 30 minutes. She also reports palpitations on exertion and recurrent episodes of abdominal pain.
Carcinoid
At a routine examination, a 65-year-old woman is discovered to have hypercalcaemia. Follow-up laboratory tests show synchronously elevated serum calcium and intact parathyroid hormone, with low phosphorus and mildly elevated alkaline phosphatase. 25-hydroxyvitamin D is in the low normal range. Past medical history is significant for hypertension and coronary artery disease. Review of symptoms includes complaints of fatigue, feeling achy, and vague depression and mental fatigue. The patient has a history of nephrolithiasis and newly detected osteopenia. Family history is negative for renal stones or calcium disorders.
primary hyperpara
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.
Cushing
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.
Cushings
A 42-year-old man undergoes trans-sphenoidal surgery for a large, non-functioning pituitary macro-adenoma. Preoperatively, dynamic pituitary hormone tests were normal, as was his fluid intake and output. Two days following surgery he developed acute polyuria, extreme thirst, and polydipsia. His urine output over the next 24 hours was 6 litres, with frequent nocturia.
DI
A 75-year-old woman presents to her family physician with a 6-month history of progressive fatigue and malaise with polyuria, polydipsia, and nocturia. She has a long-standing history of bipolar affective disorder, and has been receiving lithium for the past 15 years.
DI
A 20-year-old man is brought to the accident and emergency department with abdominal pain, nausea, and vomiting with increasing polyuria, polydipsia, and drowsiness since the previous day. He was diagnosed with type 1 diabetes 2 years previously. He mentions that he ran out of insulin 2 days ago. Vital signs at admission are: BP 106/67 mmHg, heart rate 123 beats per minute, respiratory rate 32 breaths per minute, temperature 37.1°C (98.8°F). On mental status examination, he is drowsy. Physical examination reveals Kussmaul breathing (deep and rapid respiration due to ketoacidosis) with acetone odour and mild generalised abdominal tenderness without guarding and rebound tenderness. Initial laboratory data are: blood glucose 25.0 mmol/L (450 mg/dL), arterial pH 7.24, pCO2 25 mmHg, bicarbonate 12 mmol/L (12 mEq/L), WBC count 18.5 × 10^9/L (18,500/microlitre), sodium 128 mmol/L (128 mEq/L), potassium 5.2 mmol/L (5.2 mEq/L), chloride 97 mmol/L (97 mEq/L), serum urea 11.4 mmol/L (32 mg/dL), creatinine 150.3 micromol/L (1.7 mg/dL), serum ketones strongly positive.
DKA
A 72-year-old man is brought to hospital from a nursing home for progressive lethargy. The patient has a history of hypertension complicated by a stroke 3 years previously. This has impaired his speech and rendered him wheelchair-bound. He also has a schizothymic disorder for which he was started recently on clozapine. On presentation, he is disoriented to time and place and febrile, with a temperature of 38.3°C (101°F). Vital signs include a BP of 106/67 mmHg, heart rate of 106 beats per minute, and a respiratory rate of 32 breaths per minute. Initial laboratory work-up reveals a serum glucose of 52.7 mmol/L (950 mg/dL), a serum sodium of 127 mmol/L (127 mEq/L), a serum urea of 21.1 mmol/L (59 mg/dL), and a serum creatinine of 175.4 micromol/L (2.3 mg/dL). Serum osmolality is calculated as 338 mmol/kg (338 mOsm/kg). Urinalysis reveals numerous white blood cells and bacteria. Urine is positive for nitrates but negative for ketones. Serum is negative for beta-hydroxybutyrate.
HHS
A 43-year-old pilot presents for a stress test required by his employer. He states that there is a strong history of premature cardiac disease in his family and 2 of his older brothers are currently being treated for high cholesterol. System review is negative except for some mild shortness of breath with exercise. Examination demonstrates moderate abdominal obesity with a body mass index of 31 kg/m² and waist circumference of 102 cm (40 inches). The remainder of the examination is normal.
hypercholesterolaemia
A 63-year-old woman with diabetes presents with an episode of retrosternal chest pain and diaphoresis that occurred while walking up stairs earlier that day. Her examination is unremarkable except for blood pressure 156/96 mmHg and abdominal obesity. A recent lipid profile showed triglyceride level 3.8 mmol/L (335 mg/dL), total cholesterol 6.29 mmol/L (243 mg/dL), low-density lipoprotein cholesterol 3.678 mmol/L (142 mg/dL), and high-density lipoprotein cholesterol 0.88 mmol/L (34 mg/dL). Her electrocardiogram shows no acute changes.
hypertriglyceridaemia
