[Cystinosis: an infrequent cause of distal myopathy].

  title={[Cystinosis: an infrequent cause of distal myopathy].},
  author={Francisco Javier Rodr{\'i}guez-G{\'o}mez and Jos{\'e} Manuel L{\'o}pez-Dom{\'i}nguez and Juan Jos{\'e} Borrero-Martin and Enrique Rodr{\'i}guez-G{\'o}mez and I. Chinchon-Lara and Emilio Pujol-De la llave},
  journal={Revista de neurologia},
  volume={40 3},
INTRODUCTION Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. CASE REPORT Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological… CONTINUE READING