In vivo detection of thalamic gliosis: a pathoradiologic demonstration in familial fatal insomnia.
BACKGROUND
Increasing evidence supports the usefulness of brain magnetic resonance imaging (MRI) for the diagnosis of human prion diseases. From the neuroradiological point of view, fatal familial insomnia is probably the most challenging to diagnose because brain lesions are mostly confined to the thalamus.


OBJECTIVE
To determine whether multisequence MRI of the brain can show thalamic alterations and establish pathoradiologic correlations in a patient with familial fatal insomnia.


METHODS
Radioclinical prospective study. We describe a patient with fatal familial insomnia and normal MRI images. Because the MRI study was performed only 4 days before the patient's death, we were able to compare radiological data with the lesions observed at the neuropathologic level.


METHODS
A 55-year-old man with familial fatal insomnia.


METHODS
Magnetic resonance spectroscopy combined with the measurement of apparent diffusion coefficient of water in different brain areas.


RESULTS
The neuroradiological study showed, in the thalamus but not in the other brain regions studied, an increase of apparent diffusion coefficient of water and a metabolic pattern indicating gliosis. These alterations closely correlated with neuropathologic data showing an almost pure gliosis that was restricted to the thalami.


CONCLUSIONS
Considering fatal familial insomnia as a model of thalamic-restricted gliosis, this case demonstrates that multisequences of magnetic resonance can detect prion-induced gliosis in vivo, as confirmed by a neuropathologic examination performed only a few days after radiological examination.
Haïk
Stéphane
S
Institut National de la Santé et de la Recherche Médicale Equipe Avenir-Maladies Humaines à Prions, IFR70, Laboratoire de Neuropathologie, Hôpital de la Salpêtrière, 47 Blvd de l'Hopital, 75013 Paris, France. haik@chups.jussieu.fr
Galanaud
Damien
D
Linguraru
Marius G
MG
Peoc'h
Katell
K
Privat
Nicolas
N
Faucheux
Baptiste A
BA
Ayache
Nicholas
N
Hauw
Jean-Jacques
JJ
Dormont
Didier
D
Brandel
Jean-Philippe
JP
D000483:Alleles; D001921:Brain / Q000473:pathology; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D038524:Diffusion Magnetic Resonance Imaging; D005911:Gliosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D006720:Homozygote; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D017286:Polysomnography; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics; D013786:Thalamic Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D013788:Thalamus / Q000473:pathology*
D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D008715:Methionine