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A Pathoradiologic Demonstration in Familial Fatal Insomnia

Stéphane Haïk, MD, PhD; Damien Galanaud, MD, PhD; Marius G. Linguraru, PhD; Katell Peoc’h, PharmD, PhD; Nicolas Privat, BA; Baptiste A. Faucheux, PhD; Nicholas Ayache, PhD; Jean-Jacques Hauw, MD; Didier Dormont, MD; Jean-Philippe Brandel, MD

Arch Neurol. 2008;65(4):545-549.

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.

Design  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.

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

Main Outcome Measure  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.

Conclusion  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.

Author Affiliations: Institut National de la Santé et de la Recherche Médicale, Equipe Avenir–Maladies Humaines à Prions, Paris, France (Drs Haïk, Faucheux, and Brandel and Mr Privat); Assistance Publique–Hôpitaux de Paris, Laboratoire de Neuropathologie R. Escourolle (Drs Haïk, Faucheux, and Hauw), Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob (Drs Haïk and Brandel), and Service de Neuroradiologie (Drs Galanaud and Dormont), Hôpital de la Salpêtrière, Paris, France; Groupe de Recherche Epidaure–Institut National de Recerche en Informatique et en Automatique, Sophia Antipolis, Valbonne, France (Drs Linguraru and Ayache); and UPRES EA 3621, UFR des Sciences Pharmaceutiques et Biologiques, Université Paris 5 et Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France (Dr Peoc’h).