A 30-year-old man was admitted to the hospital with a pseudo-obstruction of the bowel. Although the condition settled conservatively, the surgical team noticed weakness in both legs and regular twitching of his facial muscles. His parents reported that he had been excessively sleeping and twitchy for a long time. The patient had a history of uveitis and irritable bowel disease. On examination, he appeared pale and thin with subnormal intelligence. Blood tests showed abnormalities in hemoglobin, white cell count, and albumin levels. A chest x-ray was normal, but an MR brain scan revealed multiple high signal areas within the white matter. Lumbar puncture results were also abnormal. What is the most likely diagnosis for this patient?
MRCP2-3586
A 25-year-old man presents with a history of ataxia, hand tremor, and muscle spasms affecting his arms, legs, and face. He was referred by his GP to a neurologist. The spasms have been so sustained at times that it has led to abnormal posturing of his legs and arms. His friends have noticed that he was walking as if drunk. He has also complained of joint pains. He has no past medical history and had normal development and achievement of milestones. However, there is a family history of early onset dementia. On general examination, he has a yellow tinge to the skin and small spider naevi over the chest wall. In addition, there are small bruises over both arms.
Chest and cardiovascular examination is normal, and abdominal examination appears normal. He has sunflower cataracts on fundoscopy, cranial nerve examination is normal; however, he has some facial grimacing. Examining the upper limb, he has a bilateral intention tremor and experiences some spasms of the left arm with dystonic posturing. Tone, power, and reflexes are all normal. On examination of the lower limb, he has some dystonic posturing of the right leg, with normal power tone and reflexes. He exhibits a broad-based ataxic gait.
Further investigations reveal a high T2 signal in the basal ganglia, thalami, dentate nuclei, and cerebellar white matter on MRI brain scan. Blood tests show abnormal results, including low hemoglobin, elevated bilirubin, and abnormal liver function tests. Given the history and investigations so far, what additional test would you arrange to make the diagnosis?
MRCP2-3587
A 16-year-old male presents with a one year history of shaking hands. He has noticed a decline in the shakiness of his hands during this time. He is currently working as an administrative clerk and has been experiencing difficulties with his handwriting. He denies any exposure to drugs or toxins and is not taking any medication. He mentions that his older brother has a neurological condition.
Upon examination, he appears to be in good physical condition with a BMI of 25, a pulse of 68 bpm, and a blood pressure of 116/64 mmHg. A neurological examination reveals a resting tremor, dysarthria, and bilateral cataract. His serum ceruloplasmin levels were normal.
What is the most appropriate investigation for this individual?
MRCP2-3573
A 35-year-old man presents 10 h after a sudden-onset occipital headache, which began abruptly during sex. CT scan is unremarkable; lumbar puncture reveals evidence of xanthochromia. His blood pressure on admission is 140/90 mmHg. What is the most suitable course of action for this individual?
MRCP2-3574
A 46-year-old woman comes in with multiple small ischaemic infarcts in the right cerebellar hemisphere, as confirmed by MRI. There are also small haemorrhages within two areas of infarct. A CT angiogram taken 24 hours after admission reveals a right vertebral artery dissection with a visible free-flowing thrombus. What is the best course of action for treatment?
MRCP2-3575
A 50 year-old man presents to the nephrologists with chronic kidney disease. He has a medical history of hypertension, type 2 diabetes, and Parkinson’s disease, and is currently taking ramipril, metformin, and bromocriptine.
Over the past year, his glomerular filtration rate (GFR) has steadily declined from 85 to 44 ml/min/1.73m². The only symptom he reports is chronic back pain, which has been worsening over the same period. On examination, both kidneys are palpable.
Routine investigations reveal the following results:
An abdominal ultrasound reveals bilateral hydronephrosis. What is the most likely cause of his chronic kidney disease?
MRCP2-3576
A 22-year-old man visited his GP after experiencing a sudden collapse while attending a comedy night. Although he did not lose consciousness, he had difficulty staying awake and is struggling with his studies. During the examination, his pulse was regular at 60 bpm, and his ECG showed normal sinus rhythm. His blood pressure was 134/70 mmHg while sitting and 125/65 mmHg while standing. What is the probable reason for his collapse?
MRCP2-3577
A 27-year-old woman presents to a neurologist for the first time after relocating to a new area. She has been referred by her primary care physician for possible migraines, which she has been treating with acetazolamide.
During her visit, she reports experiencing severe headaches that can reach up to 10/10 on the pain scale. The headaches are typically worse in the morning and improve as the day goes on. She finds relief from sitting in a chair, but can sometimes experience vomiting. Coughing and chewing hard foods exacerbate the headaches.
Upon examination, the patient has normal eye movements and her optic discs appear slightly blurred, but there are no visual field defects. She declines lying flat and is not tender over her temporal scalp. Her vital signs are normal and she has no fever. The most recent test results are provided:
– Na+ 132 mmol/l – K+ 3.1 mmol/l – Urea 4.2 mmol/l – Creatinine 76 µmol/l – HCO3 18 mmol/l – MRI head shows no mass lesion, but there is increased subarachnoid space around the optic nerves.
What is the most appropriate course of management?
MRCP2-3578
A 42-year-old man comes to the clinic complaining of blurred vision while reading for the past few weeks. He first noticed this issue during a business trip to Germany a few years ago. He has no significant medical history and is only taking an over-the-counter pain reliever as needed.
During the examination, the left pupil is slightly larger than the right, and the reaction to light is greatly reduced, although it reacts better to accommodation. Tendon reflexes are absent, and plantars are down-going. Peripheral sensation is normal.
What is the most probable diagnosis?
MRCP2-3579
A 60-year-old woman presents to the neurology clinic with intermittent left-sided facial pain. She describes the first attack occurring a year ago while cleaning her teeth with an electric toothbrush, resulting in severe electric-shock pain in her cheek and jaw. Although symptoms resolved after receiving a filling, she has since experienced similar attacks every few weeks, sometimes unprovoked but often triggered by stimulation or cold winds. The patient is distressed by the impact on her daily life. She has a history of hypothyroidism and struggles with weight management, but no allergies or family history of neurological disease. On examination, there are no abnormalities in cranial or peripheral nerves, vision, or hearing.
What is the initial management approach for this patient’s symptoms?