41-Year-Old Male with Sub-Acute Encephalopathy, Seizures, and End Stage Renal Disease: A Unifying Diagnosis and Response to Therapy

Tameena Wais; Karen P Ibarra; Dattanand M Sudarshana; Meghana Eswarappa; Meyeon Park; Renata C Gallagher; Brian Tsui; Stephanie Teixeira; S Andrew Josephson; Megan Richie

doi:10.1177/19418744231193490

41-Year-Old Male with Sub-Acute Encephalopathy, Seizures, and End Stage Renal Disease: A Unifying Diagnosis and Response to Therapy

Neurohospitalist. 2024 Jan;14(1):69-73. doi: 10.1177/19418744231193490. Epub 2023 Aug 4.

Affiliations

¹ Department of Neurology, University of Arizona, Tucson, AZ, USA.
² Department of Neurology and the Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
³ Division of Nephrology, Department of Medicine, University of California, San Francisco, CA, USA.
⁴ Department of Pediatrics, University of California, San Francisco, CA, USA.
⁵ Department of Radiology, University of California, San Francisco, CA, USA.

PMID: 38235033
PMCID: PMC10790610 (available on 2025-01-01)
DOI: 10.1177/19418744231193490

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.

Keywords: brain diseases; clinical specialty; epilepsy; heredodegenerative disorders; metabolic; nervous system; neurodegenerative diseases; neurohospitalist; seizures.