Endgames Case Report

Stroke in a young man

BMJ 2013; 347 doi: https://doi.org/10.1136/bmj.f4484 (Published 15 July 2013) Cite this as: BMJ 2013;347:f4484
  1. Deepa Narayanan, specialty trainee registrar, chemical pathology/metabolic medicine,
  2. Ahai Luvai, specialty trainee registrar, chemical pathology/metabolic medicine,
  3. Robert Barski, principal clinical scientist,
  4. Reena Sharma, consultant, adult metabolic medicine
  1. 1Department of Chemical Pathology and Metabolic Medicine, Leeds Teaching Hospitals NHS Trust, Leeds LS1 3EX, UK
  1. Correspondence to: D Narayanan deepan{at}doctors.org.uk

A 27 year old man was referred to the clinic for further evaluation after he developed sudden left sided facial droop, right sided visual loss, and slurred speech. Two months previously he had elective corneal transplantation of the left eye. At the age of 22 years he had experienced an episode of sagittal sinus thrombosis for which he had received short term anticoagulation, but he had made a full recovery.

Investigations excluded JAK2 mutation, paroxysmal nocturnal haemoglobinuria, and thrombophilia. He had bilateral keratoconus and had high myopia. He was a non-smoker, did not drink alcohol, and had no family history suggestive of hypercoagulable states. His height was 175 cm and he had a body mass index of 23.

Physical examination showed right sided central visual loss and left sided upper motor neurone facial palsy. A cranial computed tomogram and carotid Doppler study confirmed right hemisphere cerebral infarction as a result of a right cranial internal carotid artery thrombus. The visual loss was attributed to a retinal artery thrombosis.

He was treated with anticoagulants. A secondary screen for stroke showed a plasma total homocysteine concentration of 341 µmol/L (reference range <18; 1 µmol/L=0.14 mg/L). Further investigations showed methionine concentration of 234 µmol/L (reference range 9-45; 1 µmol/L=0.01 mg/L) and urinary homocysteine concentration of 26 µmol/mmol creatinine (reference range <1).


  • 1 What is the differential diagnosis for stroke in young patients?

  • 2 What is the diagnosis in this patient?

  • 3 How can you diagnose this condition?

  • 4 How is this condition treated?


1 What is the differential diagnosis for stroke in young patients?

Short answer

Strokes can be ischaemic or haemorrhagic. Ischaemic strokes are broadly classified as embolic or …

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