title: Cystinosis of the brain and spinal cord with associated vasculopathy.
abstract: 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.
authors.affiliation: Department of Neurology, the University of Kentucky College of Medicine, Lexington, Kentucky 40536-0284, USA. jrbneuro@uky.edu
authors.forename: Joseph R
authors.initials: JR
authors.lastname: Berger
authors.forename: Donita A
authors.initials: DA
authors.lastname: Dillon
authors.forename: Byron A
authors.initials: BA
authors.lastname: Young
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Goldstein
authors.forename: Peter
authors.initials: P
authors.lastname: Nelson
mesh_terms: D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001707:Biopsy, Needle; D002490:Central Nervous System / Q000737:chemistry / Q000473:pathology*; D003460:Crystallization; D003543:Cysteamine / Q000627:therapeutic use; D003553:Cystine / Q000032:analysis*; D003554:Cystinosis / Q000150:complications / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology* / Q000601:surgery; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D016030:Kidney Transplantation; D008279:Magnetic Resonance Imaging; D008297:Male; D009187:Myelitis / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D011183:Postoperative Complications / Q000209:etiology; D012086:Reoperation; D012678:Sensation Disorders / Q000209:etiology; D013117:Spinal Cord Compression / Q000209:etiology; D020293:Vasculitis, Central Nervous System / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology
chemical_list: D000893:Anti-Inflammatory Agents; D007166:Immunosuppressive Agents; D003553:Cystine; D003543:Cysteamine