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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
[Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI) findings]
Walter Oleschko Arruda1, Kelly C Bordignon, Jerônimo B Milano
1Instituto de Neurologia de Curitiba, Curitiba, PR, Brasil. warruda@speednet.com.br
Insights
This case study details a rare Brazilian instance of Creutzfeldt-Jakob disease (CJD), a rapidly progressive dementia. Diagnosis was supported by positive CSF 14-3-3 protein and characteristic EEG findings, despite normal genetic testing.
Area of Science:
- Neurology
- Neuroscience
- Rare Diseases
Background:
- Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disorder.
- Sporadic CJD is the most common form, but autochthonous cases in Brazil are infrequently reported.
- Early diagnosis is challenging due to non-specific initial symptoms.
Observation:
- A 54-year-old woman presented with rapidly progressive cortical blindness, motor seizures, and aphasia.
- Initial investigations, including CSF analysis and cerebral angiography, were largely unremarkable.
- Diagnostic support included positive CSF 14-3-3 protein, specific EEG patterns (periodic sharp triphasic waves), and MRI findings (hyperintensities on DWI).
Findings:
- The patient exhibited a rapid decline in neurological function, consistent with CJD.
- Genetic analysis of the PRNP gene did not reveal known mutations, suggesting sporadic CJD.
- MRI showed transient hyperintense signals in the temporal and occipital lobes, which resolved over time.
Implications:
- This case highlights the diagnostic challenges of CJD in regions with low reported incidence.
- The combination of clinical presentation, CSF biomarkers, EEG, and MRI is crucial for diagnosis.
- Further research into the epidemiology and diagnostic nuances of CJD in Brazil is warranted.
Abstract:
Creutzfeldt-Jakob disease (CJD) is a presenile dementia characterized by rapidly progressive mental deterioration, myoclonic jerking, and other less common neurological signs. Few autoctonous cases have been described in Brazil. A 54-year-old white woman, was admitted in our service with a month history of progressive, bilateral cortical blindness. After admission, she developed right partial motor seizures( right facial, upper and lower limbs), she became progressively aphasic( mixed aphasia). Seizures were controlled with phenytoin, but she developed choreoathetotic movements on her right dimidium, with partial control after introduction of chlorpromazine 25 mg q/d. She could no longer stand up or walk due to severe ataxia. The first EEG (October, 2001) showed left hemisphere severe seizure activity (status epilepticus partialis). She was delivered home with enteral nutrition, phenytoin, chlorpromazine and mepacrine 100 mg qd. The following laboratorial tests were negative or normal: blood series, platelets, ESR, kidney and liver function, copper, ceruloplasmin, VDRL, HIV, HTLV-1, lactate, and cerebral DSA (performed in other service).A spinal tap with normal opening pressure was perform and CSF examination was normal. CSF 14-3-3 protein was positive, CSF specific neuronal enolase 7.5 ng/ml(normal). Genetic study of PRNP gene did not disclosed any known mutation. A MRI (October, 2001) showed areas of hyperintense signal (T2 and FLAIR) without Gd-enhancement on T1, in the left temporal lobe and in both occipital lobes; basal ganglia have a normal appearance. DWI imaging showed bright areas at the same sites. An EEG (March, 2002) disclosed a periodical sharp triphasic waves pattern, suggestive of CJD. A second MRI (April, 2002) showed mild generalized atrophy, no ventricular dilatation, and the hyperintense sites disappeared. She remained clinically stable and under use of chlorpromazine and mepacrine until she died due to pulmonary complications on April, 2003.
