A 32-year-old man presents to the Genetics Clinic for evaluation. He experiences muscle weakness, bilateral ptosis, and cataracts. His first child was born with a bluish tint and needed help breathing in the first few minutes after birth. The father of the child has a history of cataracts but is in good health otherwise. What is the condition affecting the father?
A 50-year-old woman arrived at the emergency department with persistent fever and fatigue. Upon examination, she displayed signs of subacute bacterial endocarditis and a new heart murmur. An ECHO revealed vegetations on her aortic valve, but her blood culture results are still pending. The patient has a history of myasthenia gravis and has been advised to avoid certain types of antibiotics.
Which antibiotics should be avoided in this patient to prevent exacerbation of her myasthenia gravis symptoms?
A 50-year-old male patient is diagnosed with an aggressive glioma after presenting with an inaugural seizure. What is the next step in the standard of care for this tumour, given its aggressive nature?
A 42-year-old male patient complains of weakness that began in his feet and hands and has now spread to his limbs, making it difficult for him to swallow. He recently had food poisoning, which has since resolved.
Which of the following test results is the best predictor of the need for invasive ventilation in the near future?
A 16-year-old girl has been experiencing severe back pain for the past two days. Despite undergoing a plain x-ray film of her spine, the results came back normal. However, two days later, she began to feel tingling sensations in her fingers and toes. The following day, she felt generally weak and decided to seek medical attention at the emergency department.
Upon examination, the girl displayed bilateral lower motor neurone facial weakness, tetraparesis with weakness in all limbs (4/5), areflexia, flexor plantars, and normal sensation. A lumbar puncture was performed, and the CSF analysis showed protein levels of 1.4 g/L (<0.4), normal glucose levels, and 0 cells (<5 ml−1). What is the most likely diagnosis?
You are requested to assess a 25-year-old male patient who has been admitted to the hospital with an ascending muscle weakness that started in his toes but has now spread to all his limbs. He is experiencing shallow breathing and has no reflexes, although he has preserved sensation. At present, his cranial nerve examination is normal, and he is fully oriented. He has no medical history except for a bout of diarrhea three weeks ago, and he is not taking any medications. What is the probable diagnosis?
A 20-year-old farm worker presents with a two-day history of progressive weakness and tingling in all limbs. He had a recent episode of respiratory symptoms that resolved without treatment. On examination, he has decreased muscle strength in all extremities and absent deep tendon reflexes in the legs. Laboratory results show normal blood counts and electrolytes, as well as elevated CSF protein and normal glucose. What is the likely diagnosis?
A 20-year-old farm worker presents with a two-day history of progressive weakness and tingling in all limbs. He had a recent episode of respiratory symptoms that resolved without treatment. On examination, he has decreased muscle strength and absent deep tendon reflexes in his legs. Laboratory results are within normal limits except for slightly elevated plasma urea and CSF protein. What is the most critical parameter to monitor in this patient?
A 29-year-old male presents with progressive weakness in his lower limbs over the course of two weeks, accompanied by feet, hand, and perioral paresthesia. Upon examination, he exhibits reduced reflexes and normal tone in his lower limbs, as well as reduced proprioception in his feet and hands, and proximal weakness in his lower limbs. An MRI of his spine shows no abnormalities.
Further testing reveals a CSF protein level of 2.0g/L, and he tests negative for HIV, Lyme disease, and Epstein-Barr virus. What is the appropriate course of treatment for this patient?
A 50-year-old male presents with ascending weakness. He first noticed that he was tripping over more easily, but now has trouble getting out of a chair. He feels otherwise well. Of note, he did have mild diarrhoea which had completely resolved a week prior to developing this weakness.
On examination, he is haemodynamically stable with a heart rate of 70 beats per minute and a blood pressure of 130/80 mmHg. His respiratory rate is 16 breaths per minute. He has reduced power in ankle plantar and dorsiflexion bilaterally, absent ankle jerks and reduced knee jerks. His plantar responses are downwards.
Which of the following results will most assist you with a diagnosis in this acute presentation?