Association of Nephropathic Cystinosis and Pseudotumor Cerebri with Bilateral Duane Syndrome Type I

摘要

A 15-year-old girl, a known case of nephropathic cystinosis with a history of kidney transplantation, presented for evaluation of lid drooping in lateral gaze and a recent-onset headache. Examination of ocular movements showed bilateral limitation of abduction combined with narrowing of palpebral fissure in adduction. Deposition of polychromatic crystals in the conjunctiva and corneal stroma of both eyes was evident. Both optic discs were oedematous and intracranial pressure was 270 mm CSF, which responded to oral acetazolamide. The patient developed metabolic imbalances and multiple organ failure, from which she expired 3 months after presentation.