The pathologic spectrum of oculoleptomeningeal amyloidosis with Val30Gly transthyretin gene mutation in a postmortem case

Sarah E. Martin, Merrill Benson, Eyas M. Hattab

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

We report the clinical and postmortem pathologic features of a 60-year-old woman with oculoleptomeningeal amyloidosis with a Val30Gly transthyretin gene mutation. Unlike other forms of hereditary amyloidosis, this rare type displays amyloid deposition predominantly in the eyes and central nervous system. Our patient belongs to 1 of only 2 kindreds known to carry this transthyretin mutation. Previous reports focused on examination of the brain and spinal cord, largely ignoring postmortem examination of the eyes. In this case, autopsy examination revealed amyloid deposition in the leptomeninges surrounding the brain, spinal cord, and optic nerves. Subependymal amyloid deposits projecting into the lateral ventricles as well as amyloid deposition in the choroid plexus, retinal vessels, nerve fiber layer of the retina, and vitreous were observed. Amyloid was not identified elsewhere in the body. Awareness of this rare form of hereditary amyloidosis is crucial, given the substantial genetic and therapeutic implications of the diagnosis. Oculoleptomeningeal amyloidosis can be easily diagnosed during life with vitreous biopsy, as was the case in our patient.

Original languageEnglish
Pages (from-to)1105-1108
Number of pages4
JournalHuman Pathology
Volume45
Issue number5
DOIs
StatePublished - 2014

Fingerprint

Prealbumin
Amyloidosis
Amyloid
Familial Amyloidosis
Mutation
Genes
Autopsy
Spinal Cord
Retinal Vessels
Spinal Nerves
Choroid Plexus
Lateral Ventricles
Amyloid Plaques
Brain
Optic Nerve
Nerve Fibers
Retina
Central Nervous System
Biopsy
Therapeutics

Keywords

  • Amyloidosis
  • Hereditary amyloidosis
  • Postmortem examination
  • Transthyretin

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

The pathologic spectrum of oculoleptomeningeal amyloidosis with Val30Gly transthyretin gene mutation in a postmortem case. / Martin, Sarah E.; Benson, Merrill; Hattab, Eyas M.

In: Human Pathology, Vol. 45, No. 5, 2014, p. 1105-1108.

Research output: Contribution to journalArticle

@article{e31465b5afd14ddeba48f7462e16cc92,
title = "The pathologic spectrum of oculoleptomeningeal amyloidosis with Val30Gly transthyretin gene mutation in a postmortem case",
abstract = "We report the clinical and postmortem pathologic features of a 60-year-old woman with oculoleptomeningeal amyloidosis with a Val30Gly transthyretin gene mutation. Unlike other forms of hereditary amyloidosis, this rare type displays amyloid deposition predominantly in the eyes and central nervous system. Our patient belongs to 1 of only 2 kindreds known to carry this transthyretin mutation. Previous reports focused on examination of the brain and spinal cord, largely ignoring postmortem examination of the eyes. In this case, autopsy examination revealed amyloid deposition in the leptomeninges surrounding the brain, spinal cord, and optic nerves. Subependymal amyloid deposits projecting into the lateral ventricles as well as amyloid deposition in the choroid plexus, retinal vessels, nerve fiber layer of the retina, and vitreous were observed. Amyloid was not identified elsewhere in the body. Awareness of this rare form of hereditary amyloidosis is crucial, given the substantial genetic and therapeutic implications of the diagnosis. Oculoleptomeningeal amyloidosis can be easily diagnosed during life with vitreous biopsy, as was the case in our patient.",
keywords = "Amyloidosis, Hereditary amyloidosis, Postmortem examination, Transthyretin",
author = "Martin, {Sarah E.} and Merrill Benson and Hattab, {Eyas M.}",
year = "2014",
doi = "10.1016/j.humpath.2013.10.037",
language = "English",
volume = "45",
pages = "1105--1108",
journal = "Human Pathology",
issn = "0046-8177",
publisher = "W.B. Saunders Ltd",
number = "5",

}

TY - JOUR

T1 - The pathologic spectrum of oculoleptomeningeal amyloidosis with Val30Gly transthyretin gene mutation in a postmortem case

AU - Martin, Sarah E.

AU - Benson, Merrill

AU - Hattab, Eyas M.

PY - 2014

Y1 - 2014

N2 - We report the clinical and postmortem pathologic features of a 60-year-old woman with oculoleptomeningeal amyloidosis with a Val30Gly transthyretin gene mutation. Unlike other forms of hereditary amyloidosis, this rare type displays amyloid deposition predominantly in the eyes and central nervous system. Our patient belongs to 1 of only 2 kindreds known to carry this transthyretin mutation. Previous reports focused on examination of the brain and spinal cord, largely ignoring postmortem examination of the eyes. In this case, autopsy examination revealed amyloid deposition in the leptomeninges surrounding the brain, spinal cord, and optic nerves. Subependymal amyloid deposits projecting into the lateral ventricles as well as amyloid deposition in the choroid plexus, retinal vessels, nerve fiber layer of the retina, and vitreous were observed. Amyloid was not identified elsewhere in the body. Awareness of this rare form of hereditary amyloidosis is crucial, given the substantial genetic and therapeutic implications of the diagnosis. Oculoleptomeningeal amyloidosis can be easily diagnosed during life with vitreous biopsy, as was the case in our patient.

AB - We report the clinical and postmortem pathologic features of a 60-year-old woman with oculoleptomeningeal amyloidosis with a Val30Gly transthyretin gene mutation. Unlike other forms of hereditary amyloidosis, this rare type displays amyloid deposition predominantly in the eyes and central nervous system. Our patient belongs to 1 of only 2 kindreds known to carry this transthyretin mutation. Previous reports focused on examination of the brain and spinal cord, largely ignoring postmortem examination of the eyes. In this case, autopsy examination revealed amyloid deposition in the leptomeninges surrounding the brain, spinal cord, and optic nerves. Subependymal amyloid deposits projecting into the lateral ventricles as well as amyloid deposition in the choroid plexus, retinal vessels, nerve fiber layer of the retina, and vitreous were observed. Amyloid was not identified elsewhere in the body. Awareness of this rare form of hereditary amyloidosis is crucial, given the substantial genetic and therapeutic implications of the diagnosis. Oculoleptomeningeal amyloidosis can be easily diagnosed during life with vitreous biopsy, as was the case in our patient.

KW - Amyloidosis

KW - Hereditary amyloidosis

KW - Postmortem examination

KW - Transthyretin

UR - http://www.scopus.com/inward/record.url?scp=84898829763&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84898829763&partnerID=8YFLogxK

U2 - 10.1016/j.humpath.2013.10.037

DO - 10.1016/j.humpath.2013.10.037

M3 - Article

C2 - 24613567

AN - SCOPUS:84898829763

VL - 45

SP - 1105

EP - 1108

JO - Human Pathology

JF - Human Pathology

SN - 0046-8177

IS - 5

ER -