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Case Report Open Access

Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4‑year‑old:  A case report

  • Authors:
    • Dharamveer Singh Choudhary
    • Jeba Shaheen
    • Ritu Kala
    • Ajay Dhakad
    • Bhuvanesh Sukhlal Kalal
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, Swai Man Singh Medical College and Hospitals, Jaipur, Rajasthan 302004, India, Department of Biotechnology, Swai Man Singh Medical College and Hospitals, Jaipur, Rajasthan 302004, India, Department of Pharmacology and Nutritional Sciences, College of Medicine, University of Kentucky, Lexington, KY 40536, USA
    Copyright: © Choudhary et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].
  • Article Number: 43
    |
    Published online on: May 14, 2025
       https://doi.org/10.3892/mi.2025.242
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Abstract

Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the accumulation of cystine within lysosomes, leading to multi‑systemic complications.  The present study describes the case details (the presentation and management) of a 4‑year‑old female child diagnosed with infantile cystinosis, further complicated by distal renal tubular acidosis and stage 4 chronic kidney disease. The patient exhibited significant ocular manifestations, notably bilateral corneal cystine crystal deposits, observed as a shimmering effect under slit‑lamp biomicroscopy and marked papilledema in both eyes. Fundoscopic examination also revealed retinal cystine deposits, indicating systemic involvement. The systemic complications included renal dysfunction requiring ongoing dialysis and bicarbonate supplementation to manage metabolic acidosis, as well as elevated intracranial pressure.  Ophthalmological management focused on vision preservation through corrective lenses and topical cysteamine eye drops to reduce corneal cystine accumulation. Regular follow‑up appointments were scheduled to monitor corneal clarity and optic nerve health. The case described herein underscores the complexity of cystinosis and the critical need for a multidisciplinary approach involving ophthalmology, nephrology, and neurology. Early diagnosis and timely therapeutic interventions are essential to mitigate the progressive nature of the disease and improve patient outcomes. The present case report also highlights the challenges in managing the condition, including treatment adherence and potential complications, and emphasizes the importance of continued research to develop more effective therapies and improve the quality of life for affected individuals. 
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Copy and paste a formatted citation
Spandidos Publications style
Choudhary DS, Shaheen J, Kala R, Dhakad A and Kalal BS: Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4‑year‑old:  A case report. Med Int 5: 43, 2025.
APA
Choudhary, D.S., Shaheen, J., Kala, R., Dhakad, A., & Kalal, B.S. (2025). Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4‑year‑old:  A case report. Medicine International, 5, 43. https://doi.org/10.3892/mi.2025.242
MLA
Choudhary, D. S., Shaheen, J., Kala, R., Dhakad, A., Kalal, B. S."Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4‑year‑old:  A case report". Medicine International 5.4 (2025): 43.
Chicago
Choudhary, D. S., Shaheen, J., Kala, R., Dhakad, A., Kalal, B. S."Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4‑year‑old:  A case report". Medicine International 5, no. 4 (2025): 43. https://doi.org/10.3892/mi.2025.242
Copy and paste a formatted citation
x
Spandidos Publications style
Choudhary DS, Shaheen J, Kala R, Dhakad A and Kalal BS: Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4‑year‑old:  A case report. Med Int 5: 43, 2025.
APA
Choudhary, D.S., Shaheen, J., Kala, R., Dhakad, A., & Kalal, B.S. (2025). Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4‑year‑old:  A case report. Medicine International, 5, 43. https://doi.org/10.3892/mi.2025.242
MLA
Choudhary, D. S., Shaheen, J., Kala, R., Dhakad, A., Kalal, B. S."Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4‑year‑old:  A case report". Medicine International 5.4 (2025): 43.
Chicago
Choudhary, D. S., Shaheen, J., Kala, R., Dhakad, A., Kalal, B. S."Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4‑year‑old:  A case report". Medicine International 5, no. 4 (2025): 43. https://doi.org/10.3892/mi.2025.242
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