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Hypothyroidism and nemaline myopathy in an adult
  1. J Pavlu1,
  2. M P Carey2,
  3. J B Winer3
  1. 1Catherine Lewis Centre, Hammersmith Hospital, London, UK
  2. 2Department of Neuropathology, Neuroscience Centre, University Hospital Birmingham, Birmingham, UK
  3. 3Department of Neurology, Neuroscience Centre, University Hospital Birmingham
  1. Correspondence to:
 Dr John B Winer
 Neuroscience Centre, University Hospital Birmingham, Queen Elizabeth Hospital, Birmingham B15 2TH, UK; j.b.winer{at}bham.ac.uk

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A significant proportion of patients with myopathy attributed to hypothyroidism remain symptomatic after long term thyroxine treatment, but muscle biopsies are rarely undertaken. Systemic review of published reports revealed only one case of typical nemaline myopathy associated with the condition. We hypothesise that hypothyroidism may not directly cause nemaline changes in muscles but it may unmask asymptomatic muscle disorders.

Case report

A 65 year old white man presented with bilateral lower limb oedema extending to the abdomen, and shortness of breath on exertion. The oedema improved on diuretics but he was noted to have muscle tenderness and weakness. He was unable to stand up from sitting. Physical examination showed proximal muscle weakness of grade 3/5. There was no previous history of an autoimmune disease and no relevant family history of muscle disease or weakness. There was no consanguinity in his family. His creatine kinase was found to be raised at 912 U/l (normal range 24 to 195 U/l) and he was referred for muscle biopsy with suspected polymyositis.

Section of muscle biopsy showed scattered atrophic fibres and occasional necrotic and regenerating fibres but no inflammation (fig 1A). Staining with ATPase showed selective fibre type 2 atrophy (fig 1B). Many fibres contained …

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