Familial Creutzfeldt-Jakob Disease with a codon 200 mutation presenting as thalamic syndrome: diagnosis by single photon emission computed tomography using (99m)Tc-ethyl cysteinate dimer.
The clinical features of familial Creutzfeldt-Jakob disease with a codon 200 point mutation [fCJD (E200K)] are similar to those of sporadic CJD (sCJD). MRI diffusion-weighted imaging (MRI-DWI) has been reported to be useful for the early diagnosis of CJD. We describe a Japanese fCJD (E200K) case in which thalamic symptoms were the initial manifestations. On admission, electroencephalography (ECG) showed no periodic synchronous discharge (PSD), and MRI showed no abnormalities. However, single photon emission computed tomography (SPECT) using (99m)Tc-ethyl cysteinate dimer ((99m)Tc-ECD) revealed hypoperfusion in the right thalamus. We conclude that the thalamic form of CJD tends to show no high-intensity area (HIA) by MRI-DWI, and that SPECT may be more useful for visualizing the affected area responsible for the thalamic symptoms at an early stage.
Konno
Shingo
S
Division of Neurology, Department of Internal Medicine, Toho University Ohashi Medical Center, Tokyo. d500372@oha.toho-u.ac.jp
Murata
Mayumi
M
Toda
Takahiro
T
Yoshii
Yasuhiro
Y
Nakazora
Hiroshi
H
Nomoto
Nobuatsu
N
Sugimoto
Hideki
H
Nemoto
Hiroshi
H
Wakata
Nobuo
N
Fujioka
Toshiki
T
Kurihara
Teruyuki
T
D003062:Codon / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D003545:Cysteine / Q000031:analogs & derivatives; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D019275:Radiopharmaceuticals; D013577:Syndrome; D013667:Technetium; D013786:Thalamic Diseases / Q000000981:diagnostic imaging*; D015899:Tomography, Emission-Computed, Single-Photon
D003062:Codon; D019275:Radiopharmaceuticals; D013667:Technetium; D003545:Cysteine