Endgames Case Report

A man with deteriorating ability to live independently

BMJ 2011; 343 doi: https://doi.org/10.1136/bmj.d7463 (Published 24 November 2011) Cite this as: BMJ 2011;343:d7463
  1. Marianne J U Novak, clinical research fellow12,
  2. Sarah J Tabrizi, professor of clinical neurology, honorary consultant neurologist and neurogeneticist13
  1. 1National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK
  2. 2Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London, UK
  3. 3Department of Neurodegenerative Disease, UCL Institute of Neurology
  1. Correspondence to: S Tabrizi sarah.tabrizi{at}prion.ucl.ac.uk

A 55 year old man was brought to see his general practitioner by his wife. She said that he had been healthy and active when younger, but that his ability to function independently had declined over the previous few years to the point where she was now helping him with all activities of daily living. If she did not help or prompt him, he did not wash or dress himself and would sit on the sofa all day doing nothing. He had no history of physical illness, but he had experienced bouts of depression for many years and had developed obsessive-compulsive behaviours over the past 15 years. These included picking up litter in the street and arranging his belongings in lines. On questioning about illness in the family, he said that he thought his mother had been diagnosed with Alzheimer’s disease in her 40s.

On examination, he had occasional involuntary movements in his arms. Examination of the limbs was otherwise normal. He was fully oriented and scored 26/30 on the mini-mental state examination.

After the patient and his family were counselled at a specialist genetics centre, he underwent genetic testing and the presumptive diagnosis was confirmed.

Questions

  • 1 What is the most likely diagnosis?

  • 2 What is the pattern of inheritance of this disease?

  • 3 Which symptoms of the disease does this patient show?

  • 4 Which characteristic abnormality would you expect to see on brain imaging?

Answers

1 What is the most likely diagnosis?

Short answer

Huntington’s disease.

Long answer

The combination of psychiatric and cognitive symptoms with involuntary movements makes Huntington’s disease the most likely diagnosis. This is supported by the presence of a dementing illness in the patient’s mother, …

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