학술논문
41-Year-Old Male with Sub-Acute Encephalopathy, Seizures, and End Stage Renal Disease: A Unifying Diagnosis and Response to Therapy.
Document Type
Academic Journal
Author
Wais T; Department of Neurology, University of Arizona, Tucson, AZ, USA.; Ibarra KP; Department of Neurology and the Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.; Sudarshana DM; Department of Neurology and the Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.; Eswarappa M; Division of Nephrology, Department of Medicine, University of California, San Francisco, CA, USA.; Park M; Division of Nephrology, Department of Medicine, University of California, San Francisco, CA, USA.; Gallagher RC; Department of Pediatrics, University of California, San Francisco, CA, USA.; Tsui B; Department of Radiology, University of California, San Francisco, CA, USA.; Teixeira S; Department of Radiology, University of California, San Francisco, CA, USA.; Josephson SA; Department of Neurology and the Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.; Richie M; Department of Neurology and the Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
Source
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101558199 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1941-8744 (Print) Linking ISSN: 19418744 NLM ISO Abbreviation: Neurohospitalist Subsets: PubMed not MEDLINE
Subject
Language
English
ISSN
1941-8744
Abstract
We describe a case of a 41-year-old male with a history of end-stage renal disease, hypertension, epilepsy, ischemic stroke, and traumatic brain injury transferred to our tertiary care center for subacute, progressive cognitive impairment. He was found to have disproportionate brain atrophy, focal seizures, and refractory hypertension. Given suspicion for an underlying genetic etiology, a genetic panel for progressive renal disease was sent, revealing two known pathogenic variants in a gene for a cobalamin metabolism disorder, Cobalamin C deficiency. He was started on targeted metabolic supplementation with subsequent improvement in his cognition. Our case highlights the crucial need to expand diagnostic workup to include genetic and metabolic causes in patients with neurologic disease, atypical features, relevant family history and multi-organ dysfunction.
Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
(© The Author(s) 2023.)
Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
(© The Author(s) 2023.)