Although neurologists are frequently faced with the management of rare diseases, there is little generic guidance for the approach to management. There are complexities with respect to diagnosis, counselling, treatment and monitoring which are idiosyncratic to rare diseases. Here we use a case report as the basis for discussion of the management of rare neurological diseases. We discuss current issues, guidance from regulatory bodies, and offer practical tips for diagnosis, treatment and monitoring, including the use of decision tree analysis. We offer a generic algorithm to aid neurologists when facing rare conditions.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1136/practneurol-2012-000379 | DOI Listing |
J Neurosurg Pediatr
January 2025
2Norton Children's Hospital and Norton Children's Neuroscience Institute, Norton Healthcare, Louisville; and.
Objective: CSF leaks are a significant source of patient morbidity following intradural spine surgeries. Watertight dural closure is crucial during these procedures to minimize the risk of a CSF leak. This study reports postoperative outcomes and changes in patient management after switching to penetrating titanium clips for dural closure in a large cohort of pediatric patients receiving a tethered cord release (TCR) or a selective dorsal rhizotomy (SDR).
View Article and Find Full Text PDFWorld J Clin Cases
January 2025
Department of Neurology, Chongqing Emergency Medical Center, Chongqing University Central Hospital, Chongqing 400000, China.
Background: Autologous fat injection in facial reconstruction is a common cosmetic surgery. Although cerebral fat embolism (CFE) as a complication is rare, it carries serious health risks.
Case Summary: We present a case of a 29-year-old female patient who developed acute CFE following facial fat filling surgery.
Clin Case Rep
January 2025
Pediatric Neurology Department, Pediatric Neurology Research Center Shahid Beheshti University of Medical Sciences Tehran Iran.
Intrathecal methotrexate can cause cauda equina syndrome in pediatric ALL patients, as demonstrated in this rare case of an 8-year-old boy. Symptoms included progressive limb weakness and urinary retention. Early recognition, prompt discontinuation of the offending agent, and multidisciplinary management are crucial.
View Article and Find Full Text PDFCureus
December 2024
Neurological Surgery, Cooper University Hospital, Camden, USA.
White epidermoid cysts are a rare type of epidermoid cyst that appears hyperintense on T1 weighted magnetic resonance imaging (MRI) and are known for their characteristic pearly white outer appearance on gross pathology. White epidermoid cysts are not common findings; therefore, this illustrative case report was written to highlight the characteristics, progression, radiological evaluation, and management of a patient who presented to our center. This case report emphasizes the importance of determining the proper diagnosis to treat and manage the condition appropriately and avoid potential future complications.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, University of South Florida, Tampa, USA.
CNS lymphoma is a rare form of non-Hodgkin lymphoma that primarily affects the brain, spinal cord, leptomeninges, or eyes, leading to severe neurological or ophthalmological complications. This case report details a 44-year-old male with human immunodeficiency virus and diffuse large B-cell lymphoma who experienced permanent vision loss due to optic perineuritis, a rare presenting symptom indicative of underlying CNS involvement. Despite previous remission, imaging revealed focal enhancements suggesting CNS lymphoma, highlighting diagnostic and management challenges in relapsed lymphoma, especially in immunocompromised patients.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!