A rare case of Sporadic Creutzfeldt-Jakob disease at a remote mountain hospital in the Indian Himalayan Region

TL;DR

This paper describes a rare case of a fatal brain disease diagnosed posthumously at a remote hospital in the Indian Himalayas.

Contribution

The novelty lies in highlighting the diagnostic challenges of a rare disease in a remote setting through a postmortem case study.

Findings

Sporadic CJD was confirmed only after autopsy due to non-specific early symptoms.

The case underscores the need for broader differential diagnosis in similar clinical presentations.

Neuropathological analysis remains essential for definitive diagnosis of prion diseases.

Abstract

Sporadic Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative spongiform encephalopathy that causes neuronal derangement secondary to prion protein. Its initial diagnosis is often complex and challenging due to non-specific clinical presentation, lack of awareness, and low clinical suspicion. This disease is invariably fatal, and most patients die within 12 months of presentation. Definite diagnosis of prion disease requires neuropathological analysis, usually done at autopsy. Here, we present the autopsy findings of a 57-year-old male patient, illustrating the complexity of diagnosing this disease early in the clinical course and the need for a broad differential diagnosis at the onset.

Figures