Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042384 (vasculitis)
 20,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystinosis is an autosomal recessive lysosomal storage disease that results in renal failure. CNS manifestations are rare. We report a 29-year man who presented with a cervical myelopathy due to cystinosis. Biopsy of the brain lesions demonstrated cystine crystal deposition and an intense perivascular with inflammatory vasculopathic changes. Symptomatic improvement attended the use of higher doses of cysteamine and corticosteroid therapy. Cystinosis of the nervous system may present as spinal cord disease and be associated with a CNS vasculopathy/vasculitis. As more patients with cystinosis experience long term survival, there will likely be an increased frequency of CNS disease.
 ...
PMID:Cystinosis of the brain and spinal cord with associated vasculopathy. 1939 24