Intracranial Hypertension in Nephropathic Cystinosis: A Paediatric Case and Literature Review

Learning Points Intracranial hypertension (IH) is a rare but significant central nervous system complication of cystinosis that clinicians should be aware of. Routine ophthalmological examinations are vital not only for monitoring corneal cystine crystals but also for the early detection of papilledema, which may be the sole presenting sign of IH. As life expectancy in cystinosis patients improves with cysteamine treatment, close monitoring for neurological complications and central nervous system involvement becomes increasingly important.