Bmj Cases

Question 1

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 1

myasthenia gravis

Question 2

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

Answer 2

bells palsy

Question 3

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 3

Multiple sclerosis

Question 4

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.

Answer 4

cluster headache

Question 5

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 5

Myasthenia gravis

Question 6

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 6

multiple sclerosis

Question 7

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.

Answer 7

alzheimers dementia

Question 8

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 is pertinent for 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.

Answer 8

als/ motor neurone disease

Question 9

A 54-year-old black woman is referred to the neurology clinic by her general practitioner for evaluation of memory problems. The patient is brought to the clinic by family members who are concerned that she has been forgetful in the past year. They report that she has difficulty in recalling birthdays and anniversaries and is not managing common household tasks such as cooking and paying bills.

The patient’s sister had onset of dementia in her early 40s and was institutionalised because she was unable to care for herself. The patient was last seen by her primary care physician 3 months ago, when she had a routine work-up, which was reported to be unremarkable. Neurological examination revealed no significant abnormalities.

Neuropsychological testing demonstrated severe impairment in executive function, deficits in visuo-spatial testing, and delayed speed of processing information. Mini-Mental State Examination score is 20/30.

Answer 9

alzhiemers dementia

Question 10

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.

Answer 10

encephalitis

Question 11

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.

Answer 11

guillaine barre

Question 12

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, palatal, and tongue weakness; tongue muscle wasting and fasciculations; dysarthria; hypophonic speech; and brisk reflexes throughout (including jaw jerk).

Answer 12

als/ motor neurone d

Question 13

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.

Answer 13

migriane

Question 14

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.

Case history #2
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 14

meningitis

Question 15

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.

Answer 15

encephalitis

Question 16

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.

Answer 16

generalised seizure

Question 17

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.

Answer 17

migraine

Question 18

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.

Answer 18

focal seizures

Question 19

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 19

huntington’s

Question 20

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.`

Answer 20

generalised seizure

Question 21

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.

Answer 21

hydrocephalus;

• communicating/normal pressure

Question 22

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.

Answer 22

focal seizures

Question 23

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.

Answer 23

neurofibromatosis type 1

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.

Question 24

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.

Answer 24

parkinsons

Question 25

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.

Answer 25

spinal cord compression

Question 26

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.

Answer 26

neurofibromatosis

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.

Question 27

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.

Answer 27

haemorrhagic stroke

Question 28

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. Brain computed tomography (CT) reveals diffuse subarachnoid blood in basal cisterns and sulci.

Answer 28

subacrachnoid haemmorhage

Question 29

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.

Answer 29

spinal cord compression

Question 30

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.

Answer 30

wernickes encephalopathy

Question 31

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.

Answer 31

tension headache

Question 32

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.

Answer 32

ischaemic stroke

Question 33

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.

Answer 33

trigeminal neuralgia

Question 34

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.

Answer 34

wernickes encephalopathy

Question 35

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.

Answer 35

transient ischaemic attack

Question 36

A 56-year-old man presents with a 25-year history of constant headache. The onset was insidious and he is certain that the only time he is headache-free is when he sleeps. He states the headache is generalised and his neck and shoulders are always ‘tight’. He denies any associated autonomic symptoms including eye tearing, nasal congestion, light and sound sensitivity, nausea, or vomiting.

Answer 36

tension headache