Neurological disorders in special groups (elderly, children, pregnancy, end of life Question Bank

A 65-year-old gentleman has been admitted to hospital with intractable seizures. He has a background of a terminal glioblastoma multiforme. He has been given appropriate first-line therapy without success and the transition to palliation has been made with initiation of a midazolam continuous subcutaneous injection (CSCI). What is the recommended starting dose over 24 hours for an adult of average body weight?

A 26-year-old female, 6 weeks post-partum, presents with a third episode of sudden onset severe headache peaking within one minute. She had an uneventful delivery without complication. She has a past history of migraine controlled with sumatriptan when required and denies recreational drug use. 

On examination, her GCS is 15 and she has no focal neurology with normal discs. Her urinary protein:creatinine ratio is 31mmol/mol and blood pressure 130/85mmHg.

Her imaging is shown below. 

 What is the likely cause for her presentation?

A 70-year-old female has been admitted for an elective renal transplant for diabetic nephropathy. The donor is her younger sister. She has a past medical history of diabetes, chronic hypertension and obstructive sleep apnoea. Her medications include insulin, metformin, gliclazide, amlodipine and ramipril. She uses CPAP for sleep apnoea. 

She is admitted to ICU following the transplant for monitoring, predominantly for blood pressure management and blood loss during the procedure. Two-days later she develops acute but fluctuating confusion, agitation, altered attention and tremor. 

Observations reveal a heart rate of 90 beat per minute but otherwise are satisfactory. 

An MRI-brain reveals cerebral atrophy and moderate small vessel disease. Her bloods reveal a mild increase in carbon dioxide but normal acid-base balance and a low bicarbonate. Full blood count and chemistries are normal. 

What is the most likely cause for her presentation?

An 82-year-old male is admitted with new-onset seizures with four in 72 hours. After the latest seizure he was found on the floor in his flat with no evidence of head injury and subsequently no acute findings on his CT-brain. He has a past medical history of mild cognitive impairment, hypertension and diabetes. 

Which of the following is the most likely cause of this newly diagnosed epilepsy?

An elderly female has been diagnosed with new-onset focal epilepsy and you are planning to start an anti-convulsant. She is taking warfarin for atrial fibrillation and has a history of previous psychotic depression.  

With this information, what is the anti-seizure medication most likely to be beneficial with regard to adherence and seizure freedom rate?

A 16-year-old child is transitioning to the adult neurology services with epilepsy secondary to periventricular nodular heterotopia (PNH). 

What mutations are associated with classic PNH?

You are asked to review an 18-year-old’s epilepsy medication. He has macrocephaly. He has recently transitioned from the paediatric services.  

What group of cortical developmental malformations does macrocephaly come under?

A 32-year-old female presents to the Emergency Department with an acute drop in consciousness following a progressive 3-day headache history. She is 2 weeks post-partum from her first baby. She had three previous pregnancies unfortunately resulting in miscarriage. Her past medical history includes type 1 diabetes, for which she takes insulin. 

On arrival, her GCS is 8 (M4V2E2) with bilateral extensor plantar responses and a livedoid rash. Her blood pressure is 140/72mmHg, heart rate 83 beats per minutes, temperature 37.1°C and respiratory rate 16/minute. 

Initial bloods reveal platelets of 120,000/ul, haemoglobin 140g/L and white cell count 9,000/uL. Serum chemistries were satisfactory. Her CT-brain is unremarkable and her MRI-brain is shown below with diffusion weighted imaging sequence on the left and apparent diffusion coefficient sequence on the right.

What is the likely cause?

An 82-year-old gentleman with advanced Parkinson’s disease and associated dementia is seen in your Outpatient Clinic with his carer, who mentions he is struggling with troublesome urinary incontinence for which he has tried first line medication but with significant side effects. The patient is often unable to get to the toilet in time and it is becoming increasingly problematic. 

Given his age and concomitant cognitive co-morbidity, which medication is most preferable? 

A 3-year-old boy is seen in the paediatric neurology clinic for assessment of poor muscle control and intellectual disability. More recently his parents have noticed finger and lip biting, facial grimacing and abnormal movements. He is late to meet his motor milestones of sitting up and he is unable to walk or even crawl. He has also not developed his speech. 

On examination, there is involuntary writhing consistent with choreoathetosis, facial grimacing and opisthotonous. Reflexes are brisk with extensor plantars bilaterally. There are bite marks around the fingers and lips. Abnormal sediment is noted within his nappy. 

Which genetic mutation test would confirm this diagnosis?

A 7-year-old boy is seen in the paediatric neurology clinic following abrupt onset of choreiform movements, obsessive compulsive behaviours and restricted food intake. Further questioning reveals recent anxiety, emotional lability, aggression and deterioration in school performance. Other than a recent sore throat, he has no past medical history, met his milestones sufficiently until recently, had no complications at birth and was doing well in school. 

Routine blood tests (full blood count, blood film, liver and kidney function) are normal.

Steroids and antibiotics are initiated with plasma exchange, which helps with his symptoms.

What is the likely diagnosis?

Which of the following anti-seizure medications is considered most safe for use during pregnancy? 

A pregnant woman presents with a sudden onset right-sided headache, neck pain and contralateral weakness during the active phase of labour. 

Examination reveals new unilateral weakness and a homonymous hemianopia. Blood pressure is 130/82mmHg, heart rate 92bpm, respiratory rate 19/min and temperature 37.2°C.

Which of the following is most likely to reveal the underlying cause?

A 7-year-old boy presents to the paediatric clinic with a history of unsteady gait, difficulty walking, and muscle weakness. The parents – who are of North-African descent – report that the child’s development was normal until the age of 5, when they started noticing that he had difficulty running and climbing stairs. He was also observed to have poor eye-hand coordination and unsteady movements. 

On examination, the boy has a ‘no-no’ head tremor, bilateral dysmetria, a mild intention tremor, reduced muscle tone, depressed reflexes and decreased vibration sense with proprioceptive errors in his fingers. 

Investigations reveal normal routine bloods, thyroid function, vitamin B12, phytanic acid, white cell enzymes and lipoprotein electrophoresis. An MRI brain reveals cerebellar atrophy. Nerve conductions studies are also normal but somatosensory evoked potentials are absent in the upper and lower limbs.

What is the most likely diagnosis?

A 12-year-old girl is brought to the Paediatric Neurology clinic by her parents. They describe recent daytime sleepiness, which is severe enough to disrupt schoolwork, for the past 6 months. More recently they have noticed episodes of slurred speech accompanied by a transient neck-drop. 

The girl describes a constant sensation of fatigue. She says her nocturnal sleep is disrupted and, on several occasions, she has seen vivid images of people in her room on waking.

She reached her developmental milestones at normal ages. She had two febrile seizures at 1 year old but has otherwise been well with no neurological problems. A maternal aunt has multiple sclerosis.

On examination, she is normal height and weight. Cranial nerve and limb examinations are unremarkable. Cognition is grossly intact without formal assessment.

Which of the following tests would you choose to confirm your diagnosis?

A 3-year-old child is admitted to the Paediatric Unit with a 4-day history of lethargy and fever, followed by 2 days of reduced movement of the left side of his body. For the last 24 hours he has been drowsy with a definite left-sided hemiplegia.

He has no medical history, is normally healthy and was born at term. He reached his developmental milestones at appropriate ages. His parents are non-consanguineous.

On examination, he has a mild pyrexia of 38°C but respiratory and cardiac observations are within normal limits. There are no rashes or ulceration and Kernig’s and Brudzinski’s signs are absent.

He is clearly drowsy and interacts very little with doctors or family. He has a subtle left-sided forehead-sparing facial droop and flaccid left-sided hemiplegia with an extensor plantar response on the left.

T2-weighted MRI brain shows multifocal, poorly-defined T2 hyperintensities in the deep white matter of both cerebral hemispheres and the basal ganglia, sparing the corpus callosum and periventricular parenchyma.

Which of the following test results would be an indication for long-term immunosuppression/ disease-modifying therapy?

A 26-year old lady presents to the emergency with a 4-week history of episodic severe headaches (2 per day lasting 1-2 hours). There is associated nasal lacrimation and tearing. An attack is aborted by oxygen therapy in the department. 

She is 18-weeks pregnant, insulin-dependent diabetic and a current smoker. There is no history of headache disorder. Neurological examination is normal. A CT brain and intracranial venogram are normal. 

A diagnosis of episodic cluster headache is made.

She has declined triptan therapy after discussing this with one of your colleagues but is keen to explore other options as symptoms are significantly impairing quality of life.

Which of the following is management option would you recommend?

Which of the following statements is correct with regard to febrile seizures in children?

A 20-month-old child with seizures and skin changes is being investigated at the regional paediatric neurology unit. 

A CT-brain is performed (shown below). 

In view of the scan findings, what is the most likely diagnosis?

A study compared the incidence of lung cancer among smokers and non-smokers. Out of 1000 smokers, 30 developed lung cancer, while out of 1000 non-smokers, 10 developed lung cancer. 

Calculate the risk ratio of lung cancer among smokers compared to non-smokers.

A study compared the prevalence of hypertension between two groups: a group of 200 people who drink coffee regularly and a group of 300 people who do not drink coffee. In the group of coffee drinkers, 60 people had hypertension, while in the group of non-coffee drinkers, 70 people had hypertension. 

Calculate the odds ratio of hypertension in the group of coffee drinkers versus non-coffee drinkers.

A study followed a cohort of 1000 people for 5 years and recorded the incidence of heart disease. Out of 500 men in the cohort, 100 developed heart disease, while out of 500 women, 50 developed heart disease.

Calculate the risk of heart disease in men and women.

A pregnant patient presents with pain, numbness, and tingling on the lateral side of the thigh.

On examination, there is numbness over the lateral thigh on the left. The remainder of the neurological examination is normal.

Which of the following is the most likely diagnosis?

Which statistical test is appropriate to compare two means from independent samples which follow the normal distribution? 

Which statistical test should be used to assess the association between two categorical variables when the observed population n = 30? 

Which statistical test should be used to compare means from two independent groups, when the data is not normally distributed? 

A new test for diagnosing a disease was administered to 200 patients, 100 of whom were known to have the disease based on a reference standard test. The results of the new test are presented in the following contingency table:

What is the sensitivity of the new test?

A 9-year-old girl is seen in the Outpatients Department with progressive cognitive decline and balance issues. Her mother has noted a slow deterioration in her studies compared to her baseline. She has always required special-needs education. Of note, when she suffers from a cold or other viral-related illness her studies suffer more for a few weeks following recovery. In addition she suffers from poor balance on ambulation which has progressed over the past two years. Her past medical history includes delayed puberty, myopia and hypodontia.

On examination you note a short stature and gait ataxia. Limb examination reveal no motor or sensory deficit but significant intention tremor and dysmetria bilaterally. Her reflexes are brisk on both sides but her plantars went down. Her Montreal Cognitive Assessment was 26/30 with marks primarily deducted in executive function.

An MRI-brain is organised which revealed areas of hypomyelination with myelination present in the optic radiation. Moreover, a small T2 hypointense dot was observed in the posterior limb of the internal capsules and T2 hypointensities also seen in the venterolateral thalamus and dentate nucleus. There is also cerebellar atrophy and thinning of the corpus callosum.

In view of the imaging findings, a genetic leukodystrophy screen was sent which returned a heterozygous mutation in the POLR3B gene.

What is the unifying diagnosis?