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BMC Neurology

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Open Access 01-12-2017 | Case report

Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review

Authors: Tingting Lu, Yuhang Pan, Lisheng Peng, Feng Qin, Xiaobo Sun, Zhengqi Lu, Wei Qiu

Published in: BMC Neurology | Issue 1/2017

Abstract

Background

Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. 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).

Case presentation

The patient was a 58-year-old female, whose main clinical manifestations were insomnia, movement disorders, autonomic hyperactivity and mental deterioration. The patient also suffered a typical episode of transient global amnesia. MRI indicated a diffuse white matter abnormality and microbleeding on the susceptibility-weighted imaging. On biopsy, the brain tissue sections showed spongiform changes with gliosis, neuronal degeneration, and prion protein deposition in a portion of the neurons. In addition, arteriosclerosis was prominent. Transmission electron microscopy showed osmiophilic particle deposition in the matrix of medial smooth muscle cells. Gene sequencing confirmed a diagnosis of FFI with CADASIL.

Conclusions

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. In cases of genetic diseases with atypical manifestations, the coexistence of two or even more diseases should be considered as a possible explanation.

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Title: Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review
Authors: Tingting Lu
Yuhang Pan
Lisheng Peng
Feng Qin
Xiaobo Sun
Zhengqi Lu
Wei Qiu
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: BMC Neurology / Issue 1/2017
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-017-0886-2

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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