A 6-year-old boy is referred by his GP to the neurology clinic with abnormal movements. His mother noticed that for the last year, the boy has been falling over more and more frequently. He has also been having increasingly slurred speech. These have been getting progressively worse. He has had recurrent chest infections in his childhood. What is the most likely diagnosis?
A 21-year-old patient is referred to the tertiary neurology clinic because of a possible diagnosis of Juvenile Parkinson’s disease. His symptoms began predominantly with dystonia affecting the lower limbs, but he now has more classical signs of older onset Parkinson’s including tremor, bradykinesia, and rigidity. You map out his family tree and understand that his sister developed Parkinson’s at the age of 16 but that his parents do not have signs of Parkinson’s. Which of the following is the most likely mode of inheritance?
A 73-year-old gentleman with type 2 diabetes mellitus, complains of difficulty walking and trouble with his hands. It began with a tingling sensation in his soles, which later extended up to his ankles. He now feels unsteady when walking, and more recently, has noticed numbness and tingling in the fingers of both hands. On examination, he has absent ankle reflexes, a high steppage gait, and altered sensation to his mid-calves. What is the underlying pathological process?
Causes of dilated pupils include which of the following?
A 25-year-old woman with Charcot-Marie-Tooth disease (type 1) asks how likely it is that any future children will have the disease. What is the most accurate answer?
Which one of the following is a contraindication to the use of a triptan in the management of migraine?
A 24-year-old gentleman presents with visual loss in his right eye, and this is diagnosed as optic neuritis. Which one of the following statements would be seen in an afferent pupillary defect?
During the examination of an elderly confused and non-coherent gentleman who was brought to casualty by a concerned neighbour, you notice that he has bilaterally small pupils, which do not appear to react to light. Under the circumstances, it is difficult to judge their response to accommodation. Which of the following conditions may not account for the pupillary appearance in this patient?
A 30-year-old painter presents with a burning pain in both feet, which has deteriorated over the last six months. He drinks 60 units of alcohol weekly and has a family history of pernicious anaemia. On examination he has impairment of all modalities of sensation in both feet but particularly pain, temperature and absent ankle jerks. What is the most likely diagnosis?