Abstract Details

Title An Autopsy Case of Transthyretin Y114C-Related Cerebral Amyloid Angiopathy after Liver Transplantation

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P07 - (-)

Poster/Presentation
Number 224

Objective

Background BACKGROUND: Patients with amyloidgenic transthyretin (ATTR) Y114C develop fatal lobular hemorrhage and rapidly progressive dementia, presenting with cerebral amyloid angiopathy (CAA). Since transthyretin (TTR) is produced by the liver, liver transplantation reduces the occurrence of fatal lobular hemorrhage. However, mild cognitive impairment progresses slowly even after transplantation.

Design/Methods DESIGN/METHODS: A patient with CAA ATTR Y114C was examined clinically and pathologically.

Results RESULTS: The patient developed vitreous opacity at the age of 30, underwent liver transplantation at the age of 39, and subsequently showed fluctuating consciousness, slowly progressive cognitive impairment, visual hallucination, and progressive apnea. At the age of 49, neuroradiological examination revealed a cerebral microbleed in the cerebellum, and the patient died of apnea 7 months later. Postmorten examination showed TTR amyloid deposition in the cortical and leptomeningeal blood vessels. Additionally, severe amyloid deposition in the leptomeninges and amyloid infiltration to the parenchyma were observed in the brainstem and the spine. Moreover, microscopic hemorrhage in the cerebellum, massive amyloid deposits in the cerebral ventricle wall, and inflammatory mononuclear cells were found surrounding a few leptomeningeal blood vessels.

Conclusions CONCLUSIONS: Severe CAA and leptomeningeal amyloidosis were observed in the patient. The remarkable amyloid deposition seen in the brainstem might have been associated with the apnea, fluctuating consciousness, and visual hallucinations. Amyloid-related angiitis might have caused brain ischemia. Continuing amyloid fibril formation from ATTR produced by the choroid plexus might have caused the manifestations after liver transplantation.

Authors/Disclosures
Taro Yamashita, MD, PhD PRESENTER	Dr. Yamashita has nothing to disclose.
	No disclosure on file
Mary R. Andriola, MD, FAAN	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
David E. Newman-Toker, MD, PhD, FAAN (Johns Hopkins Unversity School of Medicine, Dept of Neurology)	The institution of Dr. Newman-Toker has received research support from NIH, AHRQ, AHA, Moore Foundation. Dr. Newman-Toker has received intellectual property interests from a discovery or technology relating to health care.
David E. Newman-Toker, MD, PhD, FAAN (Johns Hopkins Unversity School of Medicine, Dept of Neurology)	The institution of Dr. Newman-Toker has received research support from NIH, AHRQ, AHA, Moore Foundation. Dr. Newman-Toker has received intellectual property interests from a discovery or technology relating to health care.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file

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