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Migrainous brain stem disturbance in Norrie disease: case report
  1. G P KALAMANGALAM,
  2. S J ELLIS
  1. Department of Neurology, North Staffordshire Royal Infirmary, Stoke-on-Trent ST4 7LN, UK
  1. Dr S J Ellis

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Norrie disease (or Norrie-Warburg syndrome) is a rare X linked disorder characterised by congenital blindness due to retinal hypoplasia. A third of patients may additionally have deafness and/or mental subnormality.1 The gene has been mapped to Xp11.4-p11.3, in close proximity to the monoamine oxidase A and B (MAO-A and MAO-B) loci.2

We report a possibly unique case of Norrie disease in a man who described paroxysmal attacks of deafness, slurred speech, and somnolence from his late teens. The character of the attacks, in addition to their marked response to β blockade, argue for the enlargement of the phenotypic character of the disease to include migrainous aura affecting the brain stem.

A 38 year old left handed male computer consultant with Norrie disease sought neurological attention because of episodes of being unwell. He was born with no vision and atrophic eyeballs (phthisis bulbi). At the age of 18 he developed hearing loss necessitating hearing aids; after a period of worsening his hearing stabilised. His paroxysmal …

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