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.

Abstract

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.

• Authors: Shingo Konno, Mayumi Murata, Takahiro Toda, Yasuhiro Yoshii, Hiroshi Nakazora, Nobuatsu Nomoto, Hideki Sugimoto, Hiroshi Nemoto, Nobuo Wakata, Toshiki Fujioka, Teruyuki Kurihara
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 47 Issue 1 Pg. 65-7 ( 2008) ISSN: 1349-7235 [Electronic] Japan
• PMID: 18176009 (Publication Type: Case Reports, Journal Article)

Chemical References

• Codon
• Radiopharmaceuticals
• Technetium
• Cysteine

Topics

• Codon (genetics)
• Creutzfeldt-Jakob Syndrome (diagnostic imaging, genetics)
• Cysteine (analogs & derivatives)
• Female
• Humans
• Middle Aged
• Mutation
• Radiopharmaceuticals
• Syndrome
• Technetium
• Thalamic Diseases (diagnostic imaging)
• Tomography, Emission-Computed, Single-Photon