Pacient s Creutzfeldtovou-Jakobovou nemocí se sníženým prokrvením mozku na Tc-99 ECD SPECT v počátcích choroby
Prezentujeme kazuistiku pacienta japonského původu, u nějž došlo k poruše polohocitu na levé dolní končetině a později k rozvoji ataxie. Tc-99m ECD SPECT prokázal sníženou perfuzi v parieto-temporálních oblastech, obzvláště v levé temporální oblasti, přestože na prvních difuzně vážených MR sekvencích nebyly nalezeny žádné abnormity. Po prvním MR došlo u pacienta k rozvoji poruch krátkodobé paměti, dezorientaci a myoklonu levé horní končetiny, pacient nebyl schopen vyslovit jediné slovo. MR-DWI provedené měsíc po prvním MR prokázalo bilaterální abnormity v mozkové kůře, putamen a nucleus caudatus. Při vyšetření likvoru byl pozitivní nález proteinu CSF 14-3-3 a hladina neuron-specifické enolázy dosahovala 300 pg/ ml. Pacient je nositelem M/M polymorfizmu na kodonu 129 genu pro prionový protein. Na základě těchto symptomů, klinického průběhu a laboratorních vyšetření byla u pacienta diagnostikována Creutzfeldtova-Jakobova nemoc (CJD). Tyto výsledky naznačují, že SPECT vyšetření by při zjišťování abnormit sporadické CJD mohlo být citlivější než MR.
Y. Suzuki; M. Oishi; M. Ishihara; S. Kamei
Authors place of work:
Division of Neurology, Department of Medicine, Nihon University School of Medicine, Tokyo, Japan
Published in the journal:
Cesk Slov Neurol N 2011; 74/107(2): 211-214
This report presents the case of a Japanese man who presented with disturbed position sense in his left leg and later developed ataxia. Tc-99m ECD SPECT showed reduced perfusion in the parieto-temporal regions, especially in the left temporal area, although there were no abnormalities on the first MRI-diffusion-weighted images (DWI). After the first MRI, he developed a disturbance of short-term memory, disorientation, and myoclonus of the left upper extremity, and he could no longer utter words. One month after the first MRI, repeat MRI-DWI showed bilateral abnormalities in the cerebral cortex, putamen, and caudate head. A cerebrospinal fluid (CSF) test revealed that CSF 14-3-3 protein was positive, and the neuron-specific enolase (NSE) level was 300 pg/ ml. The prion protein gene showed M/M polymorphism at codon 129. On the basis of his symptoms, clinical course, and laboratory findings, the patient was diagnosed as having probable Creutzfeldt-Jakob disease (CJD). These results suggest that SPECT may be more sensitive than MRI for detecting the abnormalities of sporadic CJD.
disease (CJD) is a neurodegenerative
disorder caused by an abnormal prion that promotes refolding of
native proteins, disrupts cell function, and causes cell death,
because the number of misfolded protein molecules increases
exponentially. Diagnosis is difficult unless the patient presents
with typical symptoms, such as progressive dementia and myoclonus.
MRI diffusion-weighted imaging (DWI) is useful for the accurate
diagnosis of CJD at an early stage [1,2]. This report presents the
case of a Japanese man who developed disturbed position sense in
his left leg followed by ataxia. Single photon emission computed
tomography using technetium-99m ethyl cysteinate dimer (Tc-99m ECD
SPECT) showed reduced perfusion in the parieto-temporal regions,
especially in the left temporal area, although there were no
abnormalities on MRI-DWI and there was no periodic synchronous
discharge (PSD) on electroencephalography (EEG) in the early stage.
patient was a 73-year-old farmer. He had previously undergone
thoracoplasty because of pulmonary tuberculosis at the age of 23
years and an appendectomy at the age of 40 years. He noticed
stiffening of both ankles in August, 2005. His ability to walk became
unstable later that month. He was admitted to our hospital in early
September 2005. A neurological examination at the time of
admission revealed mild ataxia of both feet, a slightly
disturbed position sense in the left foot, and a wide-based
state examination (MMSE) score was 28 (normal, >24). No hand or
foot myoclonus was observed. No abnormalities other than mild
age-related atrophy were observed on CT and MRI, including DWI (Fig.
1a). Tc-99m ECD SPECT was performed and showed reduced perfusion in
the parieto-temporal regions, especially the left temporal area (Fig.
2). The patient showed no signs of cognitive deterioration at the
time of the SPECT examination. A thorough examination showed no
malignancies, thus ruling out paraneoplastic cerebellar syndrome. In
addition, anti-neuronal antibodies such as anti-Hu and anti-Yo were
negative. Electroencephalography (EEG) showed a small number of
slow waves (6–7 Hz) among the normal waves (Fig. 3a). In gradual
fashion, his speech became explosive. Disturbance of short-term
memory and disorientation developed in late September. He then lost
the ability to form words, and myoclonus in the left upper extremity
developed in early October, followed by an involvement of the right
upper extremity later that month. CJD was therefore suspected, and
MRI was repeated. MRI-DWI showed bilateral abnormalities in the
cerebral cortex, putamen, and caudate head (Fig. 1b). Cerebrospinal
fluid (CSF) examination revealed that 14-3-3 protein was positive,
and the neuron-specific enolase (NSE) level was 300 pg/ ml.
The prion protein gene showed M/M polymorphism at codon 129. On
the basis of his symptoms, clinical course, and laboratory findings,
the patient was diagnosed as having probable CJD. In November, EEG
showed increased theta and delta waves, and continuous, periodic,
synchronous discharges (PSD) at 1 Hz (Fig. 3b). The patient then
developed akinetic mutism and died eight months after the onset of
symptoms. An autopsy was not performed.
especially MRI-DWI, is useful for the diagnosis of CJD even at an
early stage. Abnormalities on MRI-DWI can be detected in patients
with prion disease prior to development of brain atrophy or typical
symptoms such as progressive dementia and myoclonus [1,2]. Decreased
regional cerebral blood flow (CBF) can be seen on SPECT before brain
atrophy appears on CT . However, few studies have addressed the
sensitivity of MRI or SPECT for detecting CJD abnormalities.
Generally, some inherited prion diseases
(Gerstmann-Sträussler-Scheinker syndrome, familial CJD, and fatal
familial insomnia) demonstrate cerebellar symptoms, normal cerebellar
MRI, and decreased CBF on SPECT [4,5].
Sporadic CJD is classified into
six types, MM1, MV1, VV1, MM2, MV2, and VV2, in combination with
a band pattern (type 1 and type 2) of prion protein on Western
blots and M or V of codon 129 polymorphism (M/M, M/V, V/V) .
MM2 type is further classified into cortical and thalamic forms.
However, the thalamic form does not show PSD, and no abnormalities
are observed on MRI [7,8]. Hamaguchi et al  reported a case
of MM2 thalamic form with decreased blood flow in the bilateral
thalamus from the early stage. On the basis of his symptoms, clinical
course, and laboratory findings, the patient was diagnosed as having
probable CJD. MM1 was suspected in the present case because myoclonus
and PSD on EEG were seen during the disease course, although an
autopsy and Western blotting were not performed. Thus, decreased CBF
on SPECT might also be observed earlier than abnormalities on MRI
even in sporadic CJD, including MM1. SPECT may be more useful for
visualizing the affected area at an early stage. Although the
detailed mechanism is unclear, the deposition of prion-impaired
neurons and glial cells may decrease CBF.
MRI is usually performed earlier
than SPECT in patients who develop ataxia of unknown origin. However,
CJD should be suspected if reduced CBF is observed in patients
without any abnormal findings on MRI, and MRI should then be
repeated, while other examinations, such as CSF NSE and 14-3-3
protein levels, should also be performed.
Suzuki, MD, PhD Division
of Neurology, Department
of Medicine Nihon
University School of
Oyaguchikami-machi, Itabashi-ku 173-8610
Tokyo, Japan e-mail:
for review: 13. 4. 2010 Accepted
for press: 18. 10. 2010
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