Magnetic resonance angiography (MRA) revealed reduced branches of the cerebral arteries. Susceptibility-weighted imaging (SWI) revealed multiple hemosiderin depositions or minor hemorrhage lesions in the bilateral basal ganglia, dorsal thalamus, and right parietal lobe. The lesions showed slight hypersignal on diffusion-weighted imaging (DWI) and low signal on apparent diffusion coefficient (ADC). Brain MRI indicated diffuse abnormal signal in the bilateral frontoparietal subcortical areas, the periventricular area of the lateral ventricles, the basal ganglia, and the dorsal thalamus with external capsule and temporal pole involvement, along with malacia in the right centrum semiovale. Neither periodic spike discharges nor sleeping activity was found on the electroencephalogram. The CSF was positive for the 14–3-3 protein. Cerebrospinal fluid (CSF) testing showed a mildly elevated protein concentration (0.53 g/L). Dynamic electrocardiogram indicated low heart rate variability. The glycosylated hemoglobin (GHbA1c) level was 6.5% (6.0% two months ago), and the blood homocysteine level was 22.55 μmol/L. The patient had a body temperature of 36.7–37.3 ☌, a heart rate of 82–127 bpm, a blood pressure of 127–167/63–97 mmHg and persistent hyponatremia (125–132 mmol/L) and hypochloremia (82–92 mmol/L). Pathologic reflexes were positive on both sides. Her tendon reflexes were hyperactive except for the ankle reflex. The patient had moderate bulbar palsy, increased muscle tone with normal muscle strength in all four limbs and impaired stability and accuracy in coordinating movements. Upon admission, the patient was fully conscious but showed significant deficits in temporal and spatial orientation, recent memory, and calculation abilities. Her father, who died in his 60s due to a cerebrovascular event, was also found to have had hypertension. The patient had a history of hypertension for approximately 5–6 years and discontinued the medicine 7 months before admission (Fig. Uroschesis and constipation with obvious hyperhidrosis developed in September. However, she was still able to recognize all her family members and recall long-term memories with relative deterioration of her short-term memory. She also suffered a typical period of transient global amnesia (TGA), which lasted for 6 h. During the daytime, intermittent peculiar oneiric behaviors were noticed.
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Occasionally, the patient could not fall asleep all night. In August, the patient was found to have unconscious talking, large amplitude limb movements, and shrill laryngeal sounds while inhaling during sleep. She had an apathetic appearance and postural tremors in both hands. In May 2014, other family members noticed that the patient’s character had changed. The reduction in sleep time and early awakening started in the middle of 2013. In cases of genetic diseases with atypical manifestations, the coexistence of two or even more diseases should be considered as a possible explanation.Ī 58-year-old female was hospitalized for sleep disturbance and abnormal behaviors in October 2014.
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This case is a compelling example that even with evidence of leukoencephalopathy, prion disease should be an important differential diagnosis of rapidly progressive dementia and related diseases. Gene sequencing confirmed a diagnosis of FFI with CADASIL. Transmission electron microscopy showed osmiophilic particle deposition in the matrix of medial smooth muscle cells. In addition, arteriosclerosis was prominent. On biopsy, the brain tissue sections showed spongiform changes with gliosis, neuronal degeneration, and prion protein deposition in a portion of the neurons. MRI indicated a diffuse white matter abnormality and microbleeding on the susceptibility-weighted imaging.
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The patient also suffered a typical episode of transient global amnesia. The patient was a 58-year-old female, whose main clinical manifestations were insomnia, movement disorders, autonomic hyperactivity and mental deterioration. We report a patient with FFI presenting with diffuse abnormal signals on MRI, later confirmed as combined with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Routine brain CT and MRI usually reveal non-specific features. Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation.