Creutzfeldt-Jakob disease in the Philippines: Diagnostic challenges, clinical features and insights from the first multicenter registry and descriptive analysis

Title : Creutzfeldt-Jakob disease in the Philippines: Diagnostic challenges, clinical features and insights from the first multicenter registry and descriptive analysis

Abstract:

Background: Creutzfeldt-Jakob disease (CJD) is an exceedingly rare, fatal, and rapidly progressive neurodegenerative disorder caused by misfolded prion proteins. In the Philippines, CJD is underrecognized and underreported due to limited access to diagnostic modalities and the absence of a national registry.

Objectives: This multicenter case registry aimed to characterize the clinical, demographic, and diagnostic features of Filipino patients with CJD, determine subtype distribution, describe presenting symptoms and disease progression, assess diagnostic modalities, estimate diagnostic delays and survival time, and identify unique regional features.

Methods: A retrospective multicenter case series was conducted involving patients from the Philippines diagnosed as probable or suspected CJD from January 2000 to June 2025. Data were collated from hospitals and neurology clinics, and included demographics, clinical presentation, neuroimaging, EEG, CSF biomarkers, PRNP gene analysis, management, and outcomes. Descriptive statistics and Kaplan-Meier survival analysis were used.

Results: Eight CJD cases were identified (mean age: 68 years, 5 males), with distribution across Luzon, Visayas, and Mindanao. Myoclonus (75%) and rapidly progressive dementia (50%) were the most frequent symptoms. Diagnostic workup commonly included MRI (cortical ribboning, caudate-putamen hyperintensity), EEG (periodic sharp wave complexes), and limited CSF biomarker testing (RT-QuIC, 14-3-3, tau). Seven cases were classified as probable CJD; average survival was 5.5 months. Stroke and other neurological disorders were common initial misdiagnoses.

Conclusion: This registry is the first of its kind in the Philippines and highlights the rarity, varied presentation, and diagnostic challenges of CJD in a resource-limited setting. It underscores the urgent need for systematic surveillance, clinician education, and improved access to definitive diagnostic testing.

Keywords: Creutzfeldt-Jakob Disease, CJD, prion disease, neurodegenerative disorders, Philippines.

Biography:

Dr. Samuel T. Ayo, MD, is a dedicated physician and a first-year Internal Medicine resident currently training at Chong Hua Hospital–Fuente. A graduate of the Cebu Institute of Medicine (Batch 2023), he completed his post-graduate internship at Cebu Velez General Hospital (CVGH). Dr. Ayo maintains a strong, active interest in Infectious Diseases and is actively involved in Chong Hua Hospital's Clinician Research Educator Advancement and Training Excellence (CREATE) program. This case report exemplifies his commitment to advancing patient-centered care and contributing to academic discourse within the global Infectious Diseases community.