![]() 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. 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. 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. 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.
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