Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital.

ABSTRACT:

Background

Cystinosis is a rare systemic lysosomal disease affecting mainly the kidney and eye. Ocular involvement in cystinosis is universal being the presence of cystine crystals in the cornea a diagnostic criterion and one of the earliest manifestations of the disease. Neuro-ophthalmologic manifestations are considered a rare and late complication in these patients. The aim of this article is to report the unexpectedly high incidence of intracranial hypertension in children with cystinosis at our centre.

Methods

This study included eight children (0-16 years of age) with cystinosis seen at the paediatric ophthalmology department, Hospital Universitari Vall d'Hebron (Barcelona, Spain), a tertiary hospital, over the last 5 years.

Results

Three girls and five boys, me

SUBMITTER: Martin-Begue N 

PROVIDER: S-EPMC5585107 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature