Disorders of consciousness and epilepsy Question Bank

A 28-year-old male with refractory idiopathic generalised epilepsy presents with worsening dizziness over the preceding few days. His medications include sodium valproate, lamotrigine and levetiracetam. 

On examination, he has marked global ataxia and nystagmus. 

Which medication interaction is likely the cause of his presentation?

A 32-year-old gentleman of Han Chinese origin with newly diagnosed epilepsy requires anti-convulsant treatment. HLA testing reveals the HLA-B*15:02 allele.

Which of the following is most strongly associated with the risk of a life-threatening adverse reaction in this patient?

A 12-year-old boy has been getting into trouble at school for “not paying attention”. He is eventually referred to paediatric neurology services and has an EEG (see figure). 

You are considering commencing medication following the results of this test. Which medication would be most appropriate here?

A 16-year-old boy is referred to the epilepsy clinic with seizures and developmental delay. On further questioning, you note that he had one seizure during a febrile illness at the age of 2 lasting 3 minutes. At the age of 5 he developed nocturnal myoclonic jerks of the left arm and recurrent spells of tonic head version. He was admitted to hospital 3 months previously in non-convulsive status epilepticus. In the past few years he developed behavioural problems including poor concentration, being impulsive and having periods of irritability and screaming. 

An MRI-brain is normal. 

Which of the following is most the likely unifying diagnosis?

A 13-year-old male is seen in the epilepsy clinic following a bout of seizures, with additional myoclonus and hyperekplexia. He has a history of gradually progressive visual loss and his dilated fundoscopic examination is shown in the figure below. 

On examination, you note additional ataxia but there is no evidence of psychomotor or cognitive deterioration and there is no facial dysmorphia. Fundoscopic imaging is illustrated below.

Which of the following mutations are most likely?

A 13-year-old boy is seen in the epilepsy clinic following stimulus-sensitive myoclonus, increasing in frequency over 2 years. Over the past month he has had five generalised tonic clonic seizures and frequent falls. 

He has ataxia on examination. 

An MRI-brain is normal and an EEG reveals generalised spikes and waves. 

There is no family history of epilepsy but genetic testing has revealed a mutation in the cystatin B gene. 

Which of the following is the diagnosis?

An adolescent boy is seen in the sleep clinic for investigation following concerns from his mother regarding his sleep. He has bouts of excessive somnolence that can last from days to weeks, during which he sleeps 18-20 hours per day. During the episodes he only wakes for food and to void. He is also hypersexual, irritable with derealisation and confusion with childish behaviour when he wakes. There are no clear hypnogogic jerks or cataplexy and he is physiologically healthy and normal between bouts. There is no family history of neurological or sleep disorder.

His neurological examination is normal. 

Brain imaging and lumbar punctures – including CSF orexin – are normal. 

What is the diagnosis?

A 3-year-old boy is reviewed after his parents have noted multiple jerks, sudden falls and brief episodes during which he is unresponsive and appears vacant. 

An EEG reveals bilateral synchronous 2- to 3-Hz spike and wave complexes on a 4- to 7-Hz background. 

An MRI brain and routine bloods are unremarkable. Prior to the onset of these symptoms, he had been developing normally. 

What is the likely diagnosis?

A 39-year-old woman with a background of controlled focal epilepsy attends outpatient clinic and enquires about contraception. She does not want to alter her anti-seizure medication and is suffering from no adverse side effects. 

Which of the following is the most correct response with regard to contraception and carbamazepine?

A 28-year-old man attends the outpatient department with abnormal nocturnal events occurring three times per night. As a child he was known to sleep-talk and exhibited regular awakenings but without diagnosis. 

During the current episodes, his wife reports him sitting up, looking concerned and kicking his legs briefly. He appears afraid but does not respond when his wife tries to calm him. The events last around thirty seconds. You ask specifically about tongue biting or incontinence, which are absent. He has some memory of the events.

His examination reveals a BMI of 32kg/m² but is otherwise normal. His Epworth sleepiness scale score is 12. He is otherwise healthy and denies recreational drug use.

What is the diagnosis?

Which of the following medications is typically considered the most effective treatment for myoclonic epilepsy, provided there are no contraindications?

A 6-month-old boy presents with brief, sudden flexor or extensor movements that occur in clusters, often upon awakening. 

His EEG is shown in the figure below.

Which of the following EEG patterns is demonstrated above?

Which of the following statements is true regarding juvenile myoclonic epilepsy?

A 21-year-old woman is being investigated following 2 episodes of loss of consciousness. 

A routine EEG is reported normal and she attends for a sleep-deprived EEG which is shown below. During the recording, she becomes drowsy and falls asleep.

Which of the following would NOT be expected during stage 1 sleep?

A 1-month-old female child is brought to the Emergency Department following a generalised tonic-clonic seizure. On questioning, the parents describe repeated clusters of events over the preceding week, during which the baby suddenly “stiffens up” for around 5 seconds. The baby was born at term by Caesarean section after foetal heart rate decelerations were detected by the cardiotocograph. Family history is unremarkable. 

She is in the 50^th centile for weight and height. She is apyrexial with no rashes. She shows abnormal stimulus-sensitive startle and multiple spasms are observed while she remains an inpatient, with 3 further generalised tonic clonic seizures over the first day.

Blood tests including full blood count, ammonia, calcium, magnesium, renal and liver functions and glucose are normal. CRP is slightly elevated. Ultrasound head shows no obvious intracranial abnormalities. Urine and blood cultures show no growth after 5 days. CSF analysis reveals a lymphocyte count of 3/microlitre, protein of 0.48 g/L, glucose of 3.2 mmol/mol (serum 5.4) and no organisms.

An EEG on day 2 of admission shows the pattern below. 

Which of the following treatments is most likely to be successful in normalising the EEG and controlling seizures?

A 7-year-old boy attends the Audiology department as his teachers and parents are concerned his hearing has deteriorated over the past 6 months. His teachers also report deterioration in behaviour, with frequent angry outbursts.

Audiogram is normal, although the audiologist noted difficulty following the commands, despite multiple repetitions.

3 months later, the boy is brought to the Emergency Department following a 2-minute episode of uncontrollable left arm jerking. On examination he is alert and observations are within the normal ranges. Cranial nerves are intact and reflexes, power and coordination are all normal. Speech is hesitant and somewhat slurred.

Blood tests including full blood count, electrolytes, liver function and glucose are normal. A CT head is unremarkable.

Which of the following would you be most likely to find on further testing?

A 56-year-old bus driver attends your clinic to assess his entitlement to renew his group II driving licence.

6 years previously he was in a road traffic accident. An MRI demonstrated a fractured calvarium overlying a small subdural haematoma with several small parenchymal contusions. His records state he was admitted to hospital and had two generalised tonic-clonic seizures in the early hours of the following morning.

The neurosurgeons decided to start levetiracetam. On outpatient review 6 months later, he was seizure-free. An EEG demonstrated no abnormalities. A repeat MRI showed complete resolution of the subarachnoid haemorrhage and focal areas of gliosis in the left cortex and juxtacortical regions. On this basis, the neurosurgeons discontinued antiepileptic treatment.

The patient tells you he has had no seizures since his admission 6 years ago and has not taken anti-epileptic medications since.

Neurological examination is normal.

Which of the following statements is true?

A 12-year-old girl attends the epilepsy clinic for annual follow-up. 

From age 8 her parents noticed sudden, “jerky” movements, which could be provoked by sudden noise or sudden emotional changes. At age 9 she had her first generalised tonic-clonic seizure. These were initially well-controlled with lamotrigine, although she has had to increase her dose in the last year due to break-through generalised seizures. There is no family history of neurological disorders.

On examination, she is bright and alert with frequent proximal and distal myoclonic jerks that are exacerbated by sudden movements and noises. Cranial nerve examination is remarkable only for gaze-evoked nystagmus and mild dysarthria. Limb power, tone and sensation are normal but she has bilateral dysmetria and dysdiadochokinesis.

Full blood count, liver and kidney function are normal.

You diagnose a progressive myoclonic epilepsy (PME) and a genetic panel reveals a mutation in the gene encoding cystatin B.

Which of the following is true of her diagnosis?

A 28-year-old woman with generalised epilepsy is contacted by Public Health England when her housemate is diagnosed with Neisseria meningitis. They advise her to start a course of prophylactic rifampicin. Her seizures are usually well controlled with a combination of carbamazepine and lamotrigine. Her other medications are folic acid, vitamin D supplements and the combined oral contraceptive pill.

Which of the following would you advise?

A 5-year-old child with a history of a single febrile seizure at 26 months old is brought to the Accident and Emergency Department by his parents following an episode at home earlier in the night. His father describes the boy waking several hours after going to bed and complaining of nausea. He then vomited and became pale and sweaty.  About 10 minutes later, his eyes deviated to the left, the right side of his face began twitching and his right arm jerked for around one minute. Over the next 20 minutes he remained pale, sweaty and confused. 

When you review the boy nearly three hours after onset, his observations are all in normal ranges. He is alert and appropriate but cannot remember the event. 

On further questioning, he had a similar event 4 months ago, during which he vomited, became pale and sweaty with a “racing pulse” and developed twitching of the left face and arm. 

You suspect Panayiotopoulos syndrome. Which of the following is true of this disorder?

A 22-year-old man attends clinic with his partner. Over the past 3 months he has woken her on 5 occasions by suddenly sitting up in bed, looking around in confusion, scratching his face and running his hands over the bedding repetitively as though searching and once picked up the alarm clock next to him. The first two instances she tried to wake him but he did not respond to her and returned to sleep. On the latter three occasions she has not tried to wake him and reports each episode lasted 3-5 minutes. 

On direct questioning, she tells you he does not speak during the episodes. There is no posturing. The patient himself says he often frequently wakes feeling unrested but does not recall these episodes. 

He has no medical history. Family history is remarkable for a maternal uncle with Parkinson’s disease. His father had similar episodes in his younger years.

Which of the following is the most appropriate treatment?

A 72-year-old man is admitted to hospital with spontaneous caecal volvulus. He undergoes an emergency hemicolectomy with a reversible colostomy and is put on bowel rest for 72 hours, after which the decision about feeding will be reviewed.

The surgical team contacts you for advice. The patient has long-standing generalised epilepsy, which is usually managed with carbamazepine 800mg twice daily and topiramate 250mg twice daily. They are concerned he is at risk of further seizures. 

Concurrent medications include post-operative amoxicillin and meropenem, enalapril and metformin. 

What is the most appropriate way to manage his epilepsy?

A 21-year-old man returns to your clinic for review. Since the age of 16 he has suffered from a progressive condition characterised by gait ataxia, dysarthria and tremor. Over the intervening years he has developed epilepsy and now reports worsening muscle cramps and increasing cognitive difficulty, with family citing examples of forgetting important appointments and struggling to follow plots of television dramas.

On examination he has mild appendicular ataxia and dysarthria. Proximal lower limb power is reduced (hip flexion 4/5, hip extension 4+/5) with subtle fasciculations in the lower limbs and a spastic catch in both arms. Reflexes are brisk throughout and plantar reflexes are extensor. 

Both parents and an older sister are well.

Routine blood tests (full blood count, renal function, liver function, calcium and CRP) are normal.

Mutations in the gene encoding what enzyme are most likely to account for his symptoms?

A 59-year-old man is seen in the outpatient clinic. He suffered a transient loss of consciousness whilst driving 9 months previously on a hot summer day, resulting in a collision with another vehicle. There were no prodromal symptoms, no post ictal period and no witnessed convulsions (bystander history from passenger). He was reviewed in his local emergency department where there was no documented evidence of head injury and he had a normal ECG and CT brain.  He subsequently went on to have a prolonged cardiac tape and echocardiogram on advice of the cardiology team. These have been reported as normal. 

There is a 5-year history of Parkinson’s disease well-controlled with co-careldopa 25/100mg QDS. His license has been renewed the previous year with no concerns about driving safety. There is no history of epilepsy or previous syncopal episodes. At the time of your review there have been no further events. You are satisfied that the episode is compatible with isolated syncope.

The patient voluntarily surrendered his driving license after the event. He has now reapplied for his license (Group 1) and all relevant paperwork has been submitted to the DVLA. He has been informed of a potential several month back log with applications and asks if he can drive following his appointment with you.

Which of the following is most accurate with respect to the patients driving eligibility? 

A 4-year-old boy presents with a history of sudden bouts of laughter and uncontrolled facial grimacing in a stereotyped fashion. 

An EEG shows spikes and slow waves in the temporal region. An MRI-brain is shown below.

Which of the following is the most likely diagnosis?

A 16-year-old boy is brought to the Emergency Department following a cluster of seizures. 

MRI brain imaging is later performed and shown below.

What is the likely cause of his seizures?

A 19-year-old female attends the first fit clinic and you make a diagnosis of epilepsy. You are discussing management and seizure safety. The patient has read about SUDEP and asks for more information. 

Which of the following is correct regarding sudden unexplained death in epilepsy (SUDEP)?

A 66-year-old female seen in the outpatient clinic complains of a 6-month history of violent dream enactment and you suspect REM sleep behaviour disorder (RBD), which is subsequently confirmed with polysomnography. She has a past medical history of type 2 diabetes, depression, restless leg syndrome and mild depression. 

Neurological examination is normal. 

You suspect her RBD may be induced by a medication. Which of the following would be the most likely culprit?