Introduction Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common form of CJD causing 85% of all cases. Various phenotypes of sCJD have been identified including Heidenhain variant which has early and predominant visual symptoms with most pronounced neuropathological changes in occipital lobe. Methodology. We are reporting a case of sCJD with Retinitis Punctata Albescens (RPA), a variant of Retinitis Pigmentosa (RP), which to our knowledge has not been reported before. A 51 year old, married, right handed, Pakistani woman presented with dementia and gait problems for 3 months and visual hallucinations for 2 months. Ophthalmological examination 3 years prior to current presentation scattered white dots on the retina in both eyes centrally and peripherally and a diagnosis of retinitis punctata albescens (RPA) was made. MRI brain showed T2 hyperintensities and restricted diffusion on DWI in frontal, parietal and temporal cortices as well as caudate and putamen bilaterally. EEG showed slow posterior background activity and poorly formed tri-phasic waves. We diagnosed probable sCJD using the 1998 WHO criteria. Patient also met UCSF sCJD criteria. Discussion. Visual symptoms in sCJD are more commonly associated with posterior cortical pathology and less commonly with retinal pathology. However this is an isolated case report and warrants validation.
Khan, Quratulain and Hanif Khan, Yusra
"Sporadic cjd and retinitis punctata albescansa case report and literature review,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 9:
3, Article 9.