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Miscellanea
Images in paediatrics
Corneal cystine crystals in cystinosis
  1. Chen Ling1,
  2. Xiaorong Liu1,
  3. Zhi Chen1,
  4. Yeping Jiang1,
  5. Jianfeng Fan1,
  6. Qun Meng1,
  7. Qian Fu1,
  8. Jifeng Yu2
  1. 1 Department of Nephrology, Beijing Children’s Hospital affiliated to Capital Medical University, Beijing, China
  2. 2 Department of Ophthalmology, Beijing Children’s Hospital affiliated to Capital Medical University, Beijing, China
  1. Correspondence to Professor Xiaorong Liu, Beijing Children’s Hospital, Beijing West District Nan Li Shi Lu 56th, Beijing 100045, China; desin2000{at}sina.com

https://doi.org/10.1136/archdischild-2016-312456

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    A 7-year-old girl presented with polyuria and developmental delay. She had previously been diagnosed with secondary Fanconi syndrome and cystinosis, at the age of 4 years, but her parents did not comply with cysteamine treatment. Physical examination revealed severe growth failure and genu valgum. Venous blood gas analysis indicated metabolic acidosis. Urine analysis indicated glucosuria and proteinuria, with a urine pH of 5.5. Slit-lamp examination showed moderate corneal oedema and multiple crystal deposits in both eyes (figure 1). The diagnosis was …

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    Footnotes

    • Contributors CL is the main author. XL contributed to the final diagnosis and approved the final draft of the manuscript. JF and QM edited the article prior to submission. Images were contributed by JY and ZC. YJ and QF are the consultant clinicians responsible for the care of this patient and provided the details of the clinical history.

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Ethics approval Beijing Children’s Hospital Ethics Committee.

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