Heidenhain Variant of Creutzfeldt-Jakob Disease: A Case Report

TL;DR

This case report describes a rare form of Creutzfeldt-Jakob disease that initially causes vision loss before cognitive decline.

Contribution

The report highlights the unique clinical presentation of HvCJD with early visual symptoms.

Findings

The patient experienced weeks of visual symptoms before cognitive impairment.

HvCJD was diagnosed after an extensive and invasive diagnostic workup.

Early recognition of visual symptoms is critical for timely diagnosis.

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, fatal neurodegenerative disorder caused by an accumulation of protein-containing particles called prions in the central nervous system. The Heidenhain variant (HvCJD) is a rare subtype of CJD that presents with predominantly visual symptoms at onset. The patient presented in this case had several weeks of visual symptoms prior to hospital admission. Due to the rare nature of this disease, this patient underwent a substantial and invasive workup of her symptoms that eventually led to her being diagnosed with an incurable disease. The aim of this report is to highlight the clinical presentation and diagnostic evaluation of a patient suffering from HvCJD, with a focus on the initial presentation of progressive vision loss prior to the onset of cognitive impairment.

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