Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease: First Reported Case from East Africa

Abstract

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare prion disease that causes rapidly progressive fatal neurodegeneration. The rarer Heidenhain variant of sCJD presents with visual symptoms and is rarely reported in the literature from sub-Saharan Africa. We report the case of a 57-year-old male with a three-week history of losing direction when driving home and visual hallucinations described as seeing rainbows. Magnetic resonance imaging (MRI) of the brain revealed unilateral parieto-occipital sulcal hyperintensities with restriction on diffusion-weighted imaging (DWI), and electroencephalography (EEG) showed right para-central slowing leading to an initial diagnosis of non-convulsive status epilepticus. He was treated with anti-epileptic medication but was re-admitted less than a month later with worsening spatial memory, aggression, ataxia, dysarthria, myoclonic jerks and a positive startle response, later developing generalised tonic-clonic seizures. Repeat MRI brain scan showed widespread posterior-predominant sulcal DWI restriction in a cortical ribboning pattern pathognomonic for sCJD. EEG showed diffuse slowing, and cerebrospinal fluid was analyzed for abnormal prion protein using real-time quaking-induced conversion but was inconclusive due to suboptimal sample collection. The patient fulfilled the diagnostic criteria for probable sCJD, Heidenhain variant; the family declined brain biopsy for definitive diagnosis. He was subsequently palliated at a local hospice where he died approximately three months after the onset of symptoms. Our case highlights the presence of a rare form of sCJD, and the diagnostic challenges faced in our resource-limited setting.

Keywords: Creutzfeldt-Jakob disease; Heidenhain variant; prion; sub-Saharan Africa.

Figure 1

MRI brain on first admission. (A) (diffusion weighted imaging, DWI) and (B) (apparent diffusion coefficient, ADC): right > left restricted diffusion of parietal lobe (open arrows). (C) (fluid-attenuated inversion recovery, FLAIR): hyper-intense signal in right precuneus and parietal lobe (closed arrow), sparing white matter.

Figure 2

MRI brain on second admission one month later. (A) (DWI) (B) (ADC) and (C) (FLAIR): Bilateral symmetrical parietal cortical FLAIR hyperintense signals with restricted diffusion (open arrows) more marked in the parafalcine regions (closed arrow).