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‘Doctor Google’ ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases
  1. Machtelt G Bouwman1,
  2. Quirine G A Teunissen1,
  3. Frits A Wijburg1,
  4. Gabor E Linthorst2
  1. 1Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  2. 2Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  1. Correspondence to Dr Gabor E Linthorst, Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center (F5-166), Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; g.e.linthorst{at}


The expansion of the internet has resulted in widespread availability of medical information for both patients and physicians. People increasingly spend time on the internet searching for an explanation, diagnosis or treatment for their symptoms. Regarding rare diseases, the use of the internet may be an important tool in the diagnostic process. The authors present two cases in which concerned parents made a correct diagnosis of a lysosomal storage disorder in their child by searching the internet after a long doctor's delay. These cases illustrate the utility of publicly available internet search engines in diagnosing rare disorders and in addition illustrate the lengthy diagnostic odyssey which is common in these disorders.

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  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent Obtained from the parents.