CREUTZFELDT-JAKOB DISEASE: RECENT OBSERVATION AND DISCUSSION OF TWO CLINICAL CASES

GRACI DANIELA*, ALBA GIOVANNI*, BORSELLINO GASPARE°, MANDRACCHIA RICCARDO°, CUTRÒ MARIO*, TRIGONA ANGELO°, ROSA MARIA GAGLIO*, AVARELLO ROSA*, GURGONE GIACOMO*

* Medicine Department, Operative Unit of Neurology- ASP 1 Agrigento, (Italy) - ° Radiology Department, ASP 1 Agrigento, (Italy).

Introduction: Creutzfeldt-Jakob Disease (CJD) is a prion disease that has a wide range of clinical presentations. The diagnosis of CJD is a highly challenging issue, as clinical manifestations should be considered along with electroencephalography (EEG), cerebrospinal fluid examination (CSF), Magnetic Resonance Imaging (MRI) and serum analysis.

Cases presentation: we describe two cases of CJD, come to our observation in the same period. In first patient clinical features suggested the diagnosis of Heidenhain’s dementia, a rare variant of sporadic CJD, occurring in a 71-year-old woman. She succumbed to the disease within 8 weeks of onset of symptoms and diagnosis was pathologically confirmed. Second patient, a 56-yearold housewife, referred with mood disorders and presenting dementia, ataxia, myoclonic jerks, carried point mutation V210l at codon 210 of the Prion Protein (PRNP) gene. In both patients protein 14-3-3 in CSF was detected, EEG showed bilaterally periodic sharp and slow-wave discharges, and MRI findings revealed cortex hyper-intensity (“ribbon-sign”) in DWI and T2W sequences.

Conclusions: Our two cases are interesting because the beginning was atypical, namely with visual disturbance previous for several months the definite clinical picture in one case, and in the other with misleading psychiatric disorders.