Background: The DNAjB2 gene encodes a co-chaperone protein that interacts with the heat shock protein (HSP) family to maintain protein quality control and preserve neuronal integrity. Variants in this gene have been associated with the axonal form of Charcot-Marie-Tooth Disease (CMT2). Recent literature has also suggested an association between DNAjB2 variants and neurodegenerative disorders such as Parkinson’s disease (PD). Design/Methods: Case Report. Case Description: We present a 36-year-old female patient initially diagnosed with CMT2 at the age of 28, who later developed symptoms of PD in her fourth decade. Genetic test revealed compound heterozygous pathogenic variants in DNAjB2 (c.352+1 G>A and c.175+2T>A). Conclusion: To our knowledge, this is the first case report describing the dual phenotype of CMT2 and young-onset PD linked to compound heterozygosity in DNAjB2. The dual dysfunction of axonal degeneration and dopaminergic neuron loss suggests that DNAjB2 plays a pivotal role in maintaining proteostasis in both the peripheral and central nervous systems.
Background: Continuous EEG (cEEG) is widely used in the inpatient setting to detect non convulsive seizures and status epilepticus. Prolonged EEG monitoring can increase healthcare cost burden and patient discomfort. Optimizing cEEG by safely reducing the duration of EEG monitoring can be done using a validated scoring system. 2HELPS2B score predicts seizure risk in the next 24 h based on first hour of EEG monitoring and provides recommendation on the total duration of EEG monitoring. We aimed to safely reduce the duration of cEEG monitoring in low-risk patients (2HELPS2B score </=2) and optimize resource utilization. Methods: This study was performed as a quality improvement interventional study from January till April 2025 in the inpatient setting across three campuses of the University of Texas Medical Branch at Galveston, Texas. A 2-step smart phrase was created on the Epic electronic medical record (EMR) for 2HELPS2B score. This was made live on Epic on January 1, 2025. Epileptologists were educated through departmental grand rounds and timely reminders to incorporate the score by including the smart phrase in the first segment of the cEEG reports. Results and conclusion: The mean monthly duration of cEEG in low-risk group patients reduced by 22.5% in post intervention group. None of the patients in the low-risk group had seizures. Effective implementation of 2HELPS2B scoring system in clinical practice can safely reduce the duration of EEG monitoring in the low-risk group. This will optimize EEG resource utilization and reduce healthcare costs.
• Comorbid Charles Bonnet Syndrome and occipital epilepsy is rare occurrence. • This comorbidity poses a great diagnostic challenge. • EEG capturing the clinical events can aid in the diagnosis. • Understanding the phenomenon is crucial for diagnosis and effective management.
Optic neuritis is associated with demyelinating diseases such as multiple sclerosis (MS), but atypical presentations, particularly bilateral optic nerve involvement or coexisting sys-temic symptoms, warrant broader diagnostic consideration. This case report describes a 50-year-old male with untreated, active Hepatitis C virus (HCV) infection who presented with bilateral optic neuritis. Cerebrospinal fluid analysis revealed elevated myelin basic protein, oligoclonal bands, and a high IgG index and an elevated Hepatitis C viral load of 9.3 million IU/mL. MRI orbit showed bilateral optic neuritis/perineuritis. The patient had no history of interferon therapy and lacked markers of cryoglobulinemia, making this a ra-re case of optic neuritis likely related to chronic HCV infection. Treatment was complicated by concerns of exacerbating infection, leading to administration of IVIG without cortico-steroids. This case contributes to the expanding spectrum of multiple sclerosis (MS) mimics and highlights the diagnostic challenges in atypical optic neuritis presentations, especially in the setting of systemic viral infections.
Background/Objectives: Optic neuritis is associated with demyelinating diseases such as multiple sclerosis (MS), but atypical presentations, particularly bilateral optic nerve involvement or coexisting systemic symptoms, necessitate broader diagnostic consideration. Case presentation: This case report describes a 50-year-old male with untreated, active hepatitis C virus (HCV) infection who presented with bilateral optic neuritis. Cerebrospinal fluid (CSF) analysis revealed elevated myelin basic protein, positive oligoclonal bands, an elevated immunoglobulin G index, and an HCV viral load of 9.3 million international units/milliliter (IU/mL). Magnetic resonance imaging (MRI) of the orbits showed bilateral optic neuritis with perineuritis. The patient had no history of interferon therapy and lacked markers of cryoglobulinemia, making this a rare case of optic neuritis possibly associated with chronic hepatitis C viral infection. The patient was treated with intravenous immunoglobulin (IVIG) without corticosteroids, with some improvement in vision. Conclusions: This case adds to the expanding spectrum of multiple sclerosis (MS) mimics and underscores diagnostic challenges associated with atypical optic neuritis presentations, particularly in the setting of coexisting systemic viral infections.