Pre-operative anesthesia management of a child patient with Cystinosis

Cystinosis is an autosomal recessive lysosomal storage disease caused by CTNS gene mutation, characterized by abnormal accumulation of cysteine amino acid. Its prevalence is approximately between 1:100,000 and 1:200,000. It may affect internal organs such as the cornea, bone marrow, thyroid, liver and kidneys. It is divided into three groups: infantile nephropathic, juvenile nephropathic and ocular cystinosis.
There are limited reports in the literature regarding the peroperative management of these patients. We wanted to focus on the peroperative anesthesia management of our patient who was diagnosed with cystinosis and was planned to undergo emergency testicular torsion surgery.