A 43-year-old woman presented with 1 month of progressive lower limb burning sensation, blurred vision, and gait disturbance. Her mother died of Creutzfeldt-Jakob disease (CJD). Neurologic examination revealed only cerebellar ataxia. EEG revealed periodic generalized discharges. MRI (figure 1) showed FLAIR hyperintensity in caudate and lenticular nuclei. Molecular analysis confirmed genetic CJD (PRNP E200K mutation). One month later, she became comatose. After 10 months, EEG showed diffuse background flattening without periodic abnormalities, and MRI (figure 2) disclosed diffuse pseudohypertrophy of cerebral cortex. MRI in this patient with end-stage CJD allowed us to reveal in vivo the macroscopic spongiform changes usually observed at autopsy.(1,2).

Teaching NeuroImages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease

Gasparini S;Ferlazzo E;Aguglia U;Labate A
2013-01-01

Abstract

A 43-year-old woman presented with 1 month of progressive lower limb burning sensation, blurred vision, and gait disturbance. Her mother died of Creutzfeldt-Jakob disease (CJD). Neurologic examination revealed only cerebellar ataxia. EEG revealed periodic generalized discharges. MRI (figure 1) showed FLAIR hyperintensity in caudate and lenticular nuclei. Molecular analysis confirmed genetic CJD (PRNP E200K mutation). One month later, she became comatose. After 10 months, EEG showed diffuse background flattening without periodic abnormalities, and MRI (figure 2) disclosed diffuse pseudohypertrophy of cerebral cortex. MRI in this patient with end-stage CJD allowed us to reveal in vivo the macroscopic spongiform changes usually observed at autopsy.(1,2).
2013
Prion Disease; Creutzfeldt-Jakob Disease; MRI
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12317/7124
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 5
  • ???jsp.display-item.citation.isi??? ND
social impact