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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jns.2009.03.026 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Primary Cerebral Lymphoma With Isolated Vitreoretinal and Cerebral Recurrences Without Meningeosis: A Case Report.
Cureus
December 2024
Treatment Resistant Schizophrenia Outpatient Clinic, Júlio de Matos Hospital, São José Local Health Unit, Clinical Academic Center of Lisbon, Lisbon, PRT.
Primary central nervous system lymphoma (PCNSL) is a diffuse, large B-cell lymphoma affecting the brain, spinal cord, leptomeninges, or eyes. A patient with a recurrence of a previous PCNSL manifesting as an isolated vitreoretinal disease without central nervous system (CNS) involvement and a second cerebral recurrence without vitreoretinal involvement has not yet been reported. The patient is an 86-year-old man with PCNSL of the left cerebellum diagnosed at the age of 82 years and treated with suboccipital trepanation and resection of the lesion followed by chemotherapy.
View Article and Find Full Text PDFMaternal nutrition and offspring lung health: sex-specific pathway modulation in fibrosis, metabolism, and immunity.
Food Nutr Res
January 2025
Department of Gynaecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Maternal nutrition profoundly influences offspring health, impacting both prenatal and early postnatal development. Previous studies have demonstrated that maternal dietary habits can affect key developmental pathways in the offsprings, including those related to lung function and disease susceptibility. However, the sex-specific impact of a maternal high-salt diet (HSD) on offspring lung injury remains poorly understood.
View Article and Find Full Text PDFFive-Year Outcomes of Hybrid Arch Frozen Elephant Trunk Repair With Novel Multibranched Hybrid Graft.
Ann Thorac Surg Short Rep
December 2023
Division of Cardiac Surgery, Western University, London Health Sciences Centre, London, Ontario, Canada.
Background: The objective of this study was to report the 5-year outcomes of hybrid arch frozen elephant trunk (FET) procedures with a multibranched hybrid graft.
Methods: Between 2014 and 2020, 50 consecutive patients (63 ± 15 years old; 34% women) underwent hybrid arch FET with Thoraflex hybrid graft (Terumo Aortic) at a single center. Indications included aortic aneurysm (n = 48 [96%]), acute aortic dissection (n = 10 [20%]), and chronic dissection (n = 20 [40%]).
People with spinal cord injury or stroke are able to reach moderate-to-vigorous intensity while exercising on an end-effector robot assisted gait trainer: A pilot study.
J Rehabil Assist Technol Eng
January 2025
Department of Health Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, NSW, Sydney, Australia.
Spinal cord injury and stroke are neurological disorders that lead to aerobic deconditioning and increased likelihood of cardiovascular disease. Sessions of at least 20 minutes of moderate-to-vigorous intensity exercise is recommended but decreased mobility limits engagement in such exercise. The aim of the study was to assess whether individuals can achieve exercise recommendations with the assistance of an end-effector robot assisted gait trainer (E-RAGT).
View Article and Find Full Text PDFManagement of Anomalous Left Vertebral Artery During Open Total Arch Replacement.
Ann Thorac Surg Short Rep
December 2024
Division of Cardiac Surgery, Department of Surgery, Northwestern University Feinberg School Medicine, Chicago, Illinois.
Background: An anomalous left vertebral artery (aLVA) can complicate aortic arch surgery. We examined the safety of various aLVA revascularization strategies during open total arch replacement.
Methods: We retrospectively evaluated 92 patients undergoing total arch replacement from January 2018 to May 2023 and identified 11 patients with aLVA.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!