Endgames Picture Quiz

Progressive dysphagia, dysarthria, dystonia, and tremor

BMJ 2010; 340 doi: http://dx.doi.org/10.1136/bmj.c1213 (Published 18 March 2010) Cite this as: BMJ 2010;340:c1213
  1. N Davendralingam, medical student1,
  2. I Davagnanam, consultant neuroradiologist2,
  3. A Djamshidian, honorary clinical assistant3,
  4. A Lees, professor of neurology3
  1. 1Imperial College London, London SW7 2AZ
  2. 2Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London WC1N 3BG
  3. 3Department of Neurology, National Hospital for Neurology and Neurosurgery
  1. Correspondence to: I Davagnanam indran.davagnanam{at}uclh.nhs.uk

    A 25 year old woman presented to our institution with increasing difficulty in swallowing, talking, and walking, which resulted in her being virtually mute, wheelchair bound, and perpetually drooling. She had presented to another institution two and a half years before with worsening episodes of headache and cramp in both feet. This had progressed to a generalised weakness of her entire body, in addition to impaired speech and problems with motor coordination.

    Clinical examination showed cog wheel rigidity and a generalised jerky dystonic tremor, with occasional hemiballismic movement of the arms. The upper limb reflexes and power were normal. Bilateral wasting of the quadriceps muscles was apparent, with generalised brisk reflexes and severe spasticity of the lower limbs. Her speech was slurred but examination of the cranial nerve was otherwise unremarkable. Bilateral corneal discoloration was noted.

    The patient’s full blood count, renal biochemical profile, and liver biochemical profile were largely normal, although alanine aminotransferase was slightly raised at 35 IU/l (normal range 10-35), as was alkaline phosphatase at 374 U/l (35-104). Magnetic resonance imaging (MRI) of the brain was performed at the time of presentation (fig 1).

    Fig 1 Axial T2 weighted (A and B) and coronal fluid attenuation inversion recovery (FLAIR) (C) magnetic resonance imaging of the brain


    • 1 What abnormalities are seen on the brain images?

    • 2 What is the likely diagnosis and what are the differential diagnoses?

    • 3 What other signs would you observe or elicit?

    • 4 What other tests or investigations are needed for a definitive diagnosis?

    • 5 What treatment regimen would you institute for this patient?


    1 What abnormalities are seen on the brain images?

    Short answer

    The brain images show increased T2 weighted signal in the pons, midbrain, thalami, and basal ganglia. Putaminal …

    View Full Text

    Sign in

    Log in through your institution

    Free trial

    Register for a free trial to thebmj.com to receive unlimited access to all content on thebmj.com for 14 days.
    Sign up for a free trial