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Water intoxication: A clue to the presence of classical Fabry disease

      In patients with Fabry disease, early diagnosis and enzyme replacement therapy improve the quality of life [
      • Burand Jr, A.J.
      • Stucky C.L.
      Fabry disease pain: patient and preclinical parallels.
      ,
      • Spada M.
      • Baron R.
      • Elliott P.M.
      • Falissard B.
      • Hilz M.J.
      • Monserrat L.
      • et al.
      The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.
      ]. However, early diagnosis is sometimes difficult because the symptoms considerably vary. Here, we describe a patient whose water intoxication aided the diagnosis of classical Fabry disease. The parents of the patient kindly gave us written informed consent for publication of the patient’s detailed medical history.

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