Open Resources and Online MSc from the University of Edinburgh and RCPE

An admission to the psychiatric unit

Human brain function represented by red and blue gearsA 24 year-old woman was admitted to the a psychiatric ward with a 2 week history of thought disorder. She had become suspicious of her family, thinking they were trying to poison her. On admission her neurological examination was otherwise normal. There is no relevant family history except for an episode of depression while she was at University.

She was treated with antipsychotic agents with some response but then developed a generalised tonic-clonic seizure. Ten hours after the seizure she is confused, sweaty and tachycardic (HR 130). She exhibits waxy flexibility, a staring expression and adopts a dystonic posture of her left arm.

How would you proceed further?

Thanks to Dr David Hunt again for this week’s case.

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A weak hand

HandA 42 year-old man presents to his neurologist with a 8 month history of progressive weakness of the right hand.

He is otherwise well with no family history of neurological disease.

Systemic examination reveals mild gynaecomastia but is otherwise normal.

Neurological examination shows wasting of the interossei with 3/5 weakness in finer abduction and adduction. Abductor pollicis brevis is also slightly weak.

Sensory examination is normal and reflexes are reduced in the right arm. Legs and cranial nerves are normal.

How would you approach this clinical problem?

 

Thanks again to Dr David Hunt for this case.

 

 

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Memory loss in a 65 year old man

Memory loss patientA 65 year-old man presents with a 6 week history of memory loss which has got progressively worse. His wife has noticed that he has had a couple of episodes where he has been vacant and his face has grimaced and his arm shook.

He is otherwise well with no significant family history. He was seen by the neurology team who performed an Addenbrooke’s Cognitive Examination, and he scored 86/100. The examination was otherwise normal. Blood tests showed a mild hyponatraemia. A head CT scan is performed, which is normal.

What is the differential diagnosis?

 

There will be a mid-week case update with more clinical information for all IM students. Thanks to Dr David Hunt, Clinical Lecturer in Neurology, for the case and for moderating this week’s discussion.

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A 41 year old woman with weakness

FundoscopyA 41 year old woman presents to the emergency department with a 1 day history of rapidly progressive symmetrical weakness and numbness affecting all 4 limbs. She first noticed numbness and tingling in her hands which spread into the legs over a matter of hours. There is both urinary and faecal incontinence. She is otherwise well except for an episode of optic neuritis 3 years previously which led to a complete loss of vision in her right eye, with only mild degree of recovery.

 

 

 

On Examination:
Cranial nerves – right relative afferent pupillary defect with a dense centrocecal scotoma.
Upper Limbs: 3/5 symmetrical pyramidal weakness with brisk reflexes.
Lower Limbs: 3/5 symmetrical pyramidal weakness with brisk reflexes and upgoing plantars.
There is a sensory level at C5/6.

Systemic examination – Hypertensive 180/120, apyrexial, otherwise normal.

  • What is the most likely diagnosis and the differential diagnosis?
  • What investigations are needed?
  • What immediate steps in management are needed?

Many thanks to Dr David Hunt, Clinical Lecturer in Neurology at the Univeraity of Edinburgh, for this case. Dr Hunt will be leading the discussion in the classroom. Students be sure to add your thoughts.

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A consultation in the neurology clinic

A 31 year old woman is seen by you in the neurology clinic. She was referred by the ophthalmology team, following a presentation with an isolated episode of left-sided optic neuritis which has fully resolved. They arranged a routine MRI scan of the brain which was reported last week showing ‘multiple white matter lesions in a periventricular distribution, consistent with a diagnosis of multiple sclerosis’. She is unaware of the MRI report but the ophthalmology team have told her that the MRI scan was performed ‘to look for multiple sclerosis’.

She comes to the clinic to discuss the findings.

How would you approach the consultation?

Thanks to Dr David Hunt for this week’s case. He’ll be moderating the discussion in the classroom.

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A holiday headache

A 22-year-old right-handed man presents to the emergency department with a two-week history of worsening persistent headache after returning from a summer holiday in Spain.

He describes the headache as generalised, severity 7/10, worse on coughing and on waking. It is partially alleviated by upright posture, and by regular paracetamol. He feels occasionally nauseated, but has not vomited. He describes a ‘whooshing’ pulsatile sound in his left ear, which is worse at night.

Other than the regular paracetamol, he takes neither regular medication nor recreational drugs. He drunk alcohol to excess on the holiday and is a social smoker.  The only family history of note is that his father suffered an ischaemic stroke at 40 years old.

On examination he is apyrexial. Cranial nerve examination reveals a small central area of visual loss in the left visual field, but normal visual acuity and pupillary reflexes bilaterally. Fundoscopy reveals bilateral papilloedema. The rest of his neurological examination is normal.

 

  • What is the mechanism of development of papilloedema?
  • What do you think is the possible aetiology in this case, and what are the differential diagnoses?
  • What would your first investigation(s) be?

 

Thanks to Dr Russell Hewett for this week’s case. Dr Hewett will be moderating the discussion in the classrooms this week.

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Blurry vision and weakness in a young woman

A 34 year old right handed supermarket employee complains of a two week history of intermittent blurriness of her vision especially when driving or watching TV. She has been finding it more difficult to stack the higher shelves at her work and occasionally feels breathless. Her husband has noticed a slight droopiness of her left eye towards the end of the day. She also complains of two day history of ‘a numb face’ and intermittent speech difficulty. She takes levothyroxine for hypothyroidism. There is no family history of note.

Cranial nerve examination reveals normal visual acuity, visual fields, pupillary reflex and fundoscopy. Eye movements are apparently normal, though she develops diplopia on left horizontal and up gaze. There is a very slight ptosis of the left eyelid. Sensation of the face is normal. Speech is normal though she has a flattened smile, and is unable to whistle. Jaw jerk is present. Limb examination reveals mild bilateral shoulder abduction weakness. Deep tendon reflexes are present and symmetrical.

Routine observations and blood tests including ESR and CK are normal. TFT’s demonstrate adequately treated hypothyroidism. ECG and CXR normal.

  • What is the likely diagnosis?
  • Is there anything else you would like to perform during examination?
  • What other investigations would you like to request?

Thanks to Dr Russell Hewett for this case and for moderating the discussion in the classroom. If you want to find out the answers, click below.

Show the answer?

We had a really interesting discussion about this case. Here is Dr Hewett’s summary:

This presentation of fatigable ophthalmoplegia, ptosis, facial weakness and proximal limb weakness is most in keeping with generalised myasthenia gravis (MG).
A subjective sensation of ‘numbness’ is not uncommonly reported by those with facial weakness and can confuse the picture, though no actual sensory deficit is detected on formal examination.
The intermittent speech difficulty may be due to the facial weakness or bulbar dysfunction.
MG is associated with other autoimmune disorders, in this case the hypothyroidism (previous Hashimoto’s thyroiditis).

Important differential diagnoses to consider:
Guillain Barre syndrome (Acute Inflammatory Demyelinating Polyradiculoneuropathy) or the variant Miller Fisher Syndrome can present acutely with ophthalmplegia, ptosis and proximal weakness. In the early stages some cases can retain their reflexes, though after 1-2 weeks of symptoms you would expect areflexia.
The acute inflammatory myopathies such as polymyositis and dermatomyositis present with proximal limb and bulbar dysfunction though almost never involve the ocular muscles. A high ESR and CK would also be expected.

Others would include:
Lambert-Eaton Myasthenic syndrome – Reflexes normally depressed except after repeated muscle contraction, in older patients and associated with paraneoplastic autonomic features (dry mouth and skin, constipation etc…).
Multiple Sclerosis – the lack of objective sensory involvement leans away from MS, but if this young woman came to my clinic in Scotland, it’s always on the differential!
Botulism – should always be considered, though faster acting normally.

Anything else on examination?
The muscle weakness may only be apparent with repetitive or sustained use of the muscles e.g. maintaining upgaze whilst counting out loud to fifty may reproduce the diplopia, ptosis or dysarthria. Testing arm abduction bilaterally before and after exercising one arm can elicit fatiguability – though sometimes the weakness is asymmetrical.

Investigations:
There is a battery of tests/investigations, but the first with this patient should be to check at regular intervals her respiratory function with vital capacity or formal spirometry – with ITU involvement if any concerns as mentioned.

Blood testing:
Antibodies against acetylcholine receptors would confirm the diagnosis but are positive in approximately 80% of generalised MG and only 50% in ocular myasthenia. Another 10% maybe positive for antibodies against muscle-specific kinase (MuSK).

Electrophysiological techniques:
Repetitive nerve stimulation (detecting a decremental repsonse) and single fibre electromyography (detecting jitter and blocking) are used to detect a defect in neuromuscular transmission. This is very helpful to support the diagnosis but can depend on the skill of the neurophysiologist, patient compliance and environmental factors.

The ‘Tensilon’ test uses edrophonium as a short-acting acetylcholine esterase inhibitor to improve muscle weakness in patients with MG. This test can show impressive results has fallen out of favour due to the false-positive and false-negative results even if blinded appropriately and cardiac adverse events. A resuscitation trolley nearby is required!
Once a diagnosis is made, a CT or MRI thorax is obligatory to exclude a thymoma, especially in older patients.

Other tests mentioned -
Cranial MRI – not usually necessary especially if the blood tests and EMG/NCS support the diagnosis, but if there is a strong suspicion of MS or the is only atypical cranial involvement then it should certainly be considered.
Muscle biopsy would only be performed if the other tests were negative.

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Sudden onset weakness in a 72 year old woman

A 72 year-old woman is brought into the emergency department. She was having dinner with friends at 6:30pm when she complained of a mild headache then felt unwell and collapsed to the floor. She was unable to speak and was unable to move the right side of her body.  The ambulance phone ahead to the emergency department to say that she has right facial, arm and leg weakness and does not respond to commands. Her heart rate is 120 and blood pressure 190/110.

The patient arrives at 7:10pm. You examine her and she has upper motor neuron right facial weakness, 0/5 right arm power and 2/5 right leg power. Reflexes are normal throughout except for an upgoing right plantar response. She is drowsy and makes no meaningful verbal response but will copy movements with her left arm. Her blood pressure is 180/90, pulse 90 regular. There is a left carotid bruit.

  • What is the diagnosis and what are the immediate management steps?
Thanks to Dr David Hunt for this case. We had a very interesting discussion about this case in the classroom. You can find out what we thought by clicking below.

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It sounds like a stroke and this is potentially a time-critical situation since she is within the potential thrombolysis window.
However, this shouldn’t detract from careful clinical evaluation.
A rapid but thorough history and examination is essential. We considered the differential list in our discussion.
In this case, we all thought that this was likely to be a total anterior circulation syndrome.
The  key message is that time is most certainly brain: the greatest benefit is delivering thrombolysis in the first 90 minutes.
We discussed the use of imaging in stroke diagnosis and management, which can be challenging. The diagnosis of stroke is a clinical one and so the primary role of CT is to exclude a haemorrhagic cause for the stroke.
In this case, a clinical diagnosis of stroke was made, and a CT head excluded haemorrhage.
In our discussion we considered the contraindications to thrombolysis, and what tests should be performed before considering such treatment.
Thanks to all the students who contributed to the discussion, some excellent points were made.
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Refractory epilepsy in a 39 year old man

A 39 year-old man presents to A+E following an episode of collapse. On this occasion he had been shopping in Tesco when he collapsed. He himself has little recollection of events and could give no account of a prodrome. He says that he was buying cheese and the next thing he remembers is waking up on the floor just before ambulance staff arrived on the scene. He felt rather bruised and a little disorientated at first, then noticed that he had bitten the side of his tongue and his trousers were wet. An ambulance was called and he was brought in to hospital.

He had been diagnosed with epilepsy two years previously and is currently treated with sodium valproate 600mg bd. He says that he has had an MRI scan of the head which was normal and an EEG which showed “some evidence of epilepsy”. He tells you he has had six generalised seizures in total and these have occurred every 3-4 months despite starting the valproate last year. These can occur at any time of day and there is no clear pattern or precipitant to attacks, although two have occurred in stressful situations at work. Typically he has no warning, collapses to the floor and has no recollection of the event. He says that people who have witnessed the attacks say he convulses and there is typically evidence of lateral tongue biting with occasional urinary incontinence. There have been no events suggestive of focal seizures. He reports jerking of his arms as he falls asleep. He is previously fit and well and there is no significant past medical history. There is no relevant family history. He is a teacher, lives alone and denies any illicit drug use.
He is clinically well, his neurological examination is normal, he is fully orientated and he wants to go home.
  • Is he on the right medication?
  • What is the single most useful clinical undertaking in this situation?
MSc students, please add your comments to the class discussion board.
Thanks to Dr David Hunt for this case.
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A 45 year old man with a weak foot

A 45 year old man presents with a weak left foot. The day prior to presentation he developed a deep burning pain in the foot. On waking he finds that his foot is weak and he has a tendency to trip over it when walking.

On questioning, he reveals that for the last 3 months he has developed an ache in his left hand associated with mild weakness of grip and numbness over the ulnar border of the forearm.  He has lost 1 stone in weight over a similar time-period and describes occasional night sweats. There are no sphincter symptoms.

Admission examination reveals normal cardiovascular, respiratory and GI systems. Cranial nerve examination is normal. There is wasting of the intrinsic muscles of his left hand but with a preserved thenar eminence. He has a weak right thumb (in abduction) but normal right hand strength otherwise. There is patchy sensory loss in the left ulnar border of the forearm.  Upper limb reflexes are normal. There is evidence of a small digital infarct on one of his toes. In the lower limbs he has a pronounced left foot drop with 1/5 in ankle dorsiflexion and 3/5 power in ankle eversion and plantarflexion. There is sensory loss over the dorsum of the left foot. His left ankle jerk is reduced.

Investigations show raised platelets (610 x 109 /l) but otherwise normal FBC, renal function, liver function tests and bone profile. ESR (erythrocyte sedimentation rate) is 75mm/hr, and CRP (C-reactive protein) is 20mg/l.

What is the differential diagnosis, the most likely diagnosis and investigation of choice?

MSc students please add you thoughts and comments to the class discussion board.

Thanks to Dr David Hunt for this case.

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Progressive weakness in a young man

A 28 year-old man presents to the emergency department with difficulty walking. Two days previously he noticed tingling in his hands then subsequently both feet. He then experienced severe midthoracic back pain. Over the next day he developed proximal leg weakness and a loss of balance precipitating admission to hospital. Sphincters are not affected. He is otherwise well and is recovering from an upper respiratory tract infection.

On admission he is apyrexial. Cranial nerve examination reveals mild bifacial weakness and a mild dysarthria. In the upper limbs, sensation is normal and there is pseudoathetosis. Strength is normal. Both biceps reflexes are present with reinforcement but otherwise reflexes are absent. In the lower limbs he can barely stand unaided and Romberg’s test is strongly positive. There is proximal weakness. He is arreflexic.

Lumbar puncture is acellular with a raised protein at 1.3g/L and a normal paired glucose. ECG shows marked sinus arrhythmia. Nerve conduction studies are normal.

  1. What is the diagnosis?
  2. Are any more investigations required?
  3. What are the principles of management?

Answer below.  Thanks to Dr David Hunt for this case.

 

Show the answer?

1. The diagnosis is Guillain-Barre syndrome. GBS typically presents with radicular pain and ascending symmetrical weakness together with a combination of ascending motor, sensory and autonomic features. The major differential diagnosis of concern is a cervical cord lesion. However GBS often affects cranial nerves with ophthalmolplegia, facial weakness and bulbar symptoms. The involvement of cranial nerves in this case makes a cervical cord lesion highly unlikely.

2. Vital capacity.
CSF analysis is the investigation of choice and typically reveals a raised CSF protein with a normal cell count.
Nerve conduction studies are often normal in the early stages of GBS, as here. Did that catch you out too? This is because much of the inflammation occurs in the nerve roots; conduction velocities can only be measured in peripheral nerves in the extremities. Later in the course of the disease peripheral nerve demyelination or axonal loss may occur. Root pathology can be measured by F-wave latency and this is often the only abnormality.
GM1 antibodies are useful in cases of acute motor GBS and Gq1b antibodies are specific for the Miller-Fisher syndrome (ophthalmoplegia, ataxia and arreflexia), but in both of these entities the clinical picture is usually distinct and straightforward to recognise.

3. The following are the key aspects of management in order of priority. Always liaise with neurology and intensive care.

1. Assessment of neuromuscular respiratory failure.
2. Thromboembolism prophylaxis.
3. Treatment of inflammatory neuropathy with either intravenous immunoglobulin or plasma exchange.

 

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