Findings in the Gerstmann–Sträussler–Scheinker

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Rev Esp Med Nucl Imagen Mol. 2012;31(6):352–353
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Findings in the Gerstmann–Sträussler–Scheinker syndrome in an 18 F-FDG PET-CT
study夽
Hallazgos en el síndrome de Gerstmann-Sträussler-Scheinker en un estudio de PET-TC con
18
F-FDG
C. Achury a,∗ , V. Camacho a , A. Fernández a , B. Gómez-Ansón b , R. Jaller a , I. Carrió a
a
b
Servei de Medicina Nuclear, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Servei de Radiodiagnostic, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
a r t i c l e
i n f o
Article history:
Received 28 February 2012
Accepted 6 April 2012
The Gerstmann–Sträussler–Scheinker syndrome (GSSS) is a
hereditary variant of the prion diseases characterized by cerebellous ataxia, cognitive deterioration, spastic paraparesia and
movement disorders. The onset of this syndrome is in the second
decade of life but it may appear at 60 years.1 It is related to different
alterations in the PRNP gene, with a point mutation in the P102L2
being the most frequent.2
We present the case of a 50-year-old patient who died one year
after diagnosis of GSSS with a clinical picture consistent with ataxic
gait which progresses until daily activities are impeded, marked
behavioral disinhibition in all aspects and dysphagia due to progressive spasticity until the need for gastrostomy for nutrition. The
patient presented positive protein 14.3.3 in CSF (characteristic of
human prion diseases) and a point mutation in the P102L gene.
Necropsy was not performed after death due to refusal of the family.
The MR showed increased signal intensity in the cerebellum,
basal ganglia (caudate and putamen nucleus), thalamic and hippocampal pulvinars, visible in diffusion sequences (DWI) with
restriction of the apparent diffusion coefficients (ADC) (Fig. 1A–D)
as well as in T2-weighted and FLAIR sequences. Positron emission tomography study (18 FDG-PET/TC) showed homogeneity and
marked reduction of glycidic metabolism in the basal ganglia and
thalamus as well as in the cerebellum and encephalic trunk (Fig. 2A
and B), without cortical involvement. All these findings correlated
with the clinical manifestations of the patient.
From the point of view of the glycidic metabolism, all these
findings are little characteristic of the classical encephalopathy
by prions (sporadic or familial Creutzfeld–Jacob disease) given
the absence of cortical involvement. Alterations in the neocortex,
basal ganglia and/or thalamus are described in the PET with 18 FFDG in GSSS. In our case, the notable, homogeneous cerebellous
hypometabolism was of note which, to date, has been described
Figure 1. Axial slices of the MR study (DWI and ADC) showing increased signal
intensity in the basal ganglia (caudal and putamen nucleus) (A), in the thalamic
pulvinars (B), and in the cerebellous hemispheres (C and D), with restriction of the
ADC in these localizations.
夽 Please cite this article as: Achury C, et al. Hallazgos en el síndrome de GerstmannSträussler-Scheinker en un estudio de PET-TC con 18F-FDG. Rev Esp Med Nucl
Imagen Mol. 2012;31(6):352–3.
∗ Corresponding author.
E-mail address: [email protected] (C. Achury).
as a region affected in post-mortem histology and in some studies performed with amyloid plaque tracers such as 18 F-FDDNP, but
have not, until now, been reported in a study with 18 F-FDG.1,3 The
greater diagnostic commitment and achievement obtained with
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C. Achury et al. / Rev Esp Med Nucl Imagen Mol. 2012;31(6):352–353
353
PET/CT with 18 F-FDG compared to images obtained with MR is of
note.3
Although there is currently no specific treatment for this
encephalopathy and the outcome is always fatal, early diagnosis
such as that which may be obtained with a PET/CT study with 18 FFDG may provide early accompaniment and family support in the
management of this disease.
Bibliografía
1. Collins S, McLean CA, Masters CL. Gerstmann–Sträussler–Scheinker syndrome,
fatal familial insomnia, and kuru: a review of these less common human transmissible spongiform encephalopathies. J Clin Neurosci. 2011;8:387–97.
2. Ortega-Cubero S, Luquín MR, Domínguez I, Arbizu J, Pagola I, Carmona-Abellán
MM, et al. Neuroimagen estructural y funcional en las enfermedades priónicas
humanas. Neurología. 2011, http://dx.doi.org/10.1016/j.nrl.2011.03.012.
3. Kepe V, Ghetti B, Martin R, Farlow MR, Bresjanac M, Miller K, et al. PET of brain
prion protein amyloid in Gerstmann–Sträussler–Scheinker disease. Brain Pathol.
2010;20:419–30.
Figure 2. PET/CT study with 18 F-FDG (axial slices) showing severe decrease of glycidic metabolism in both basal ganglia and both thalamus (A) as well as marked
hypometabolism in the cerebellum and encephalic trunk (B).