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Hard to swallow: atypical transthyretin amyloid neuropathy mistaken for CIDP
  1. Malick Gibani1,
  2. Jonathan Hoare2,
  3. Carol J Whelan3,
  4. Jason N Dungu3,
  5. Janet A Gilbertson3,
  6. Carolyn M Gabriel1
  1. 1Department of Neurology, Imperial College Healthcare NHS Trust, London, UK
  2. 2Department of Gastroenterology, Imperial College Healthcare NHS Trust, London, UK
  3. 3National Amyloidosis Centre, UCL Medical School, London, UK
  1. Correspondence to Dr Carolyn M Gabriel, Department of Neurology, St Mary's Hospital, Imperial College Healthcare NHS Trust, Praed St, London W2 1NY, UK; carolyn.gabriel{at}imperial.nhs.uk

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Case report

In April 2009, a 59-year-old Afro-Caribbean man gave a 6-month history of progressive unsteadiness and falls. He reported heavy legs, tiredness on walking and painless paraesthesia below the knees. There were cramps in his hands, with weakness when attempting to open jars.

He had a previous diagnosis of achalasia, for which he had sought medical attention 1 year before developing neurological symptoms. He had reported dysphagia to solids and liquids, with 10 kg weight loss. Barium swallow showed barium hold up in the distal oesophagus, tapering to a beak-like appearance. Oesophageal manometry showed elevated lower oesophageal sphincter pressure, with failure to relax on swallowing, consistent with achalasia. This was managed with two cycles of botulinum toxin injections to the lower oesophageal sphincter and oesophageal dilatation, initially with good results. He took ferrous sulfate for an unspecified anaemia. There was no toxin exposure or alcohol overuse, but he smoked marijuana occasionally. There was no relevant family history.

On examination, there was wasting below the knees and in the small hand muscles, with distal symmetrical weakness. He had only a flicker of movement in the hallux and small muscles of the hands and mild weakness of movements around the ankle and finger extensors. He was areflexic. Sensory examination showed ‘stocking-and-glove’ sensory loss to light touch; vibration sense was present at the ankles, but proprioception present only for large movements of the hallux. Pinprick sensation was normal. General examination was normal.

Nerve conduction studies showed a severe sensorimotor polyneuropathy, which …

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