Answer for BIR CoW 10 July 2022
Creutzfeldt Jakob disease
Findings
T2 / FLAIR symmetric hyperintensities noted in head of bilateral caudate nuclei and bilateral putamen showing diffusion restriction with low ADC values. T2 / FLAIR gyral hyperintensity noted in bilateral frontal, parietal and bilateral temporal lobes showing diffusion restriction with low ADC values. Impression: Features consistent with sporadic variant of Creutzfeldt-Jakob disease.
Discussion
Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy that results in rapidly progressive dementia and death usually within a year from onset. The vast majority are sporadic, but familial and acquired forms are occasionally encountered. Recognizable MR imaging findings, particularly derived from diffusion-weighted imaging (DWI), in sCJD patients can precede the onset of clinical manifestations, even in unsuspected cases with unremarkable/atypical results at EEG and CSF examination , making this technique the cornerstone to support early diagnosis . Four types of Creutzfeldt-Jakob disease have been described: Sporadic (sCJD) accounts for 85-90% of cases Variant (vCJD) bovine-to-human transmission of bovine spongiform encephalopathy (a.k.a. "mad cow disease"): considered zoonotic by some Familial (fCJD) 10% of cases these individuals carry a PRPc mutation Iatrogenic (iCJD) following administration of cadaveric human pituitary hormones (pre-1985) various transplants Specific sites of imaging abnormality are typical of sporadic Creutzfeldt-Jakob disease : cerebral cortex(most common) : most common: insula, cingulate gyrus, superior frontal gyrus common: precuneus, cuneus, paracentral lobule, medial frontal gyrus, occipital gyri, angular/supramarginal gyrus, superior parietal lobule, inferior frontal gyrus less common: postcentral gyrus, precentral gyrus, medial and superior temporal gyri deep grey matter most common: striatum (caudate and putamen) common: thalamus Involvement is usually bilateral but may be asymmetric or symmetric . The extent of abnormality increases as the disease progresses. The Heidenhain variant predominantly involves the parieto-occipital cortex. The Brownell-Oppenheimer variant involves the cerebellum and sometimes basal ganglia, and may not be visible until atrophy develops . Variant Creutzfeldt-Jakob disease characteristically shows the hockey stick sign and/or pulvinar sign of thalamic involvement. However, thalamic involvement is not pathognomonic of variant disease and is more commonly seen with sporadic Creutzfeldt-Jakob disease due to the overall greater prevalence of the sporadic CJD. FINDINGS ON MRI The most sensitive sequence to identify characteristic changes is diffusion-weighted imaging (e.g. b=1000) which demonstrates increased signal, that is more conspicuous than either T2/FLAIR changes and ADC abnormalities. Signal abnormalities may be subtle initially but become more pronounced as the disease progresses. Review of sequential studies also typically demonstrates rapidly progressive cerebral atrophy. DWI: hyperintensity (most sensitive) and more pronounced than T2/FLAIR changes due to a combination of true diffusion restriction and so-called T2 shine through. ADC: variable, depends on timing early: low values - these may be seen prior to marked changes on DWI or visible FLAIR changes late: pseudonormalised or facilitated and associated with atrophy 22-24 T2-FLAIR: hyperintensity is more subtle than DWI changes and may be absent early in the course of the disease T1: may show high signal in globus pallidus (uncommon) T1 C+: no abnormal enhancement MR spectroscopy has shown decreased N-acetylaspartate (NAA) , which corresponds to neuronal stress and death, and increased myoinositol, which is a marker of astrocytic gliosis, even in areas that look normal at conventional MR imaging . These biochemical abnormalities also seem to result from advanced damage. Fluorine-18-FDG PET shows hypometabolism in the affected regions. Differential diagnosis: Autoimmune encephalitis Hypoxic / anoxic brain injury Osmotic demyelination Encephalitis Hepatic encephalopathy Hypoglycemic encephalopathy Mitochondrial disease
References:
1.Jakob A. Über eigenartige erkrankungen des zentralnervensys-tems mit bemerkenswertem anatomischen befunde. Z Gesamte Neurol Psychiatr 1921;64(1):147–228. 2.Creutzfeldt HG. Über eine eigenartige herdförmige erkrankung des zentralnervensystems (vorläufige mitteilung). Z Gesamte Neurol Psychiatr 1920;57(1):1–18. 3.Triarhou LC. Alfons Maria Jakob (1884-1931), neuropa-thologist par excellence: scientific endeavors in Europe and the Americas. Eur Neurol 2009;61(1):52–58. 4.Collins S, Boyd A, Fletcher A, Gonzales MF, McLean CA, Masters CL. Recent advances in the pre-mortem diagnosis of Creutzfeldt-Jakob disease. J Clin Neurosci 2000;7(3):195–202. 5.Radiopaedia Mitochondrial disease
Findings
T2 / FLAIR symmetric hyperintensities noted in head of bilateral caudate nuclei and bilateral putamen showing diffusion restriction with low ADC values. T2 / FLAIR gyral hyperintensity noted in bilateral frontal, parietal and bilateral temporal lobes showing diffusion restriction with low ADC values. Impression: Features consistent with sporadic variant of Creutzfeldt-Jakob disease.
Discussion
Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy that results in rapidly progressive dementia and death usually within a year from onset. The vast majority are sporadic, but familial and acquired forms are occasionally encountered. Recognizable MR imaging findings, particularly derived from diffusion-weighted imaging (DWI), in sCJD patients can precede the onset of clinical manifestations, even in unsuspected cases with unremarkable/atypical results at EEG and CSF examination , making this technique the cornerstone to support early diagnosis . Four types of Creutzfeldt-Jakob disease have been described: Sporadic (sCJD) accounts for 85-90% of cases Variant (vCJD) bovine-to-human transmission of bovine spongiform encephalopathy (a.k.a. "mad cow disease"): considered zoonotic by some Familial (fCJD) 10% of cases these individuals carry a PRPc mutation Iatrogenic (iCJD) following administration of cadaveric human pituitary hormones (pre-1985) various transplants Specific sites of imaging abnormality are typical of sporadic Creutzfeldt-Jakob disease : cerebral cortex(most common) : most common: insula, cingulate gyrus, superior frontal gyrus common: precuneus, cuneus, paracentral lobule, medial frontal gyrus, occipital gyri, angular/supramarginal gyrus, superior parietal lobule, inferior frontal gyrus less common: postcentral gyrus, precentral gyrus, medial and superior temporal gyri deep grey matter most common: striatum (caudate and putamen) common: thalamus Involvement is usually bilateral but may be asymmetric or symmetric . The extent of abnormality increases as the disease progresses. The Heidenhain variant predominantly involves the parieto-occipital cortex. The Brownell-Oppenheimer variant involves the cerebellum and sometimes basal ganglia, and may not be visible until atrophy develops . Variant Creutzfeldt-Jakob disease characteristically shows the hockey stick sign and/or pulvinar sign of thalamic involvement. However, thalamic involvement is not pathognomonic of variant disease and is more commonly seen with sporadic Creutzfeldt-Jakob disease due to the overall greater prevalence of the sporadic CJD. FINDINGS ON MRI The most sensitive sequence to identify characteristic changes is diffusion-weighted imaging (e.g. b=1000) which demonstrates increased signal, that is more conspicuous than either T2/FLAIR changes and ADC abnormalities. Signal abnormalities may be subtle initially but become more pronounced as the disease progresses. Review of sequential studies also typically demonstrates rapidly progressive cerebral atrophy. DWI: hyperintensity (most sensitive) and more pronounced than T2/FLAIR changes due to a combination of true diffusion restriction and so-called T2 shine through. ADC: variable, depends on timing early: low values - these may be seen prior to marked changes on DWI or visible FLAIR changes late: pseudonormalised or facilitated and associated with atrophy 22-24 T2-FLAIR: hyperintensity is more subtle than DWI changes and may be absent early in the course of the disease T1: may show high signal in globus pallidus (uncommon) T1 C+: no abnormal enhancement MR spectroscopy has shown decreased N-acetylaspartate (NAA) , which corresponds to neuronal stress and death, and increased myoinositol, which is a marker of astrocytic gliosis, even in areas that look normal at conventional MR imaging . These biochemical abnormalities also seem to result from advanced damage. Fluorine-18-FDG PET shows hypometabolism in the affected regions. Differential diagnosis: Autoimmune encephalitis Hypoxic / anoxic brain injury Osmotic demyelination Encephalitis Hepatic encephalopathy Hypoglycemic encephalopathy Mitochondrial disease
References:
1.Jakob A. Über eigenartige erkrankungen des zentralnervensys-tems mit bemerkenswertem anatomischen befunde. Z Gesamte Neurol Psychiatr 1921;64(1):147–228. 2.Creutzfeldt HG. Über eine eigenartige herdförmige erkrankung des zentralnervensystems (vorläufige mitteilung). Z Gesamte Neurol Psychiatr 1920;57(1):1–18. 3.Triarhou LC. Alfons Maria Jakob (1884-1931), neuropa-thologist par excellence: scientific endeavors in Europe and the Americas. Eur Neurol 2009;61(1):52–58. 4.Collins S, Boyd A, Fletcher A, Gonzales MF, McLean CA, Masters CL. Recent advances in the pre-mortem diagnosis of Creutzfeldt-Jakob disease. J Clin Neurosci 2000;7(3):195–202. 5.Radiopaedia Mitochondrial disease
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!