A case of intracranial hypertension and papilledema associated with nephropathic cystinosis and ocular involvement.

Abstract

An 11 year old boy with nephropathic cystinosis developed moderate to severe bilateral optic disc edema two months after he received a deceased donor renal allograft. The bilateral optic disc edema was found to be a result of intracranial hypertension diagnosed by lumbar puncture. No etiology was found. He was treated with acetazolamide and his optic dis edema resolved over a period of eight months and did not recur after acetazolamide was discontinued. The mechanism of intracranial hypertension in patients with nephropathic cystinosis is not well understood, but may involve obstruction of cerebrospinal fluid outflow due to deposition of cystine crystals in arachnoid villi.