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Case Reports
. 2021 Oct;11(5):e757-e759.
doi: 10.1212/CPJ.0000000000001054.

Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis

Laura Cechin  1 , Jihad Gasmelseed  1 , James Bashford  1 , Dorota Rowczenio  1 , Mary M Reilly  1 , Julian D Gillmore  1 , Ester Coutinho  1
Affiliations
Case Reports

Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis

Laura Cechin et al. Neurol Clin Pract. 2021 Oct.
No abstract available

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Figures

Figure 1
Figure 1. Brain Imaging Abnormalities
(A) A plain CT scan demonstrating the hyperdensity of the left sylvian fissure and left tentorium, suspicious for subarachnoid hemorrhage. (B) MRI after gadolinium injection showing diffuse intense leptomeningeal enhancement (including cranial nerve enhancement [not seen in this image]).
Figure 2
Figure 2. Family Pedigree
Our index case and two family members carried pathogenic variants of the transthyretin gene, consistent with hereditary transthyretin amyloidosis. Ages (where known) are displayed. SAH = subarachnoid hemorrhage.
See this image and copyright information in PMC

References

    1. Gillmore JD, Maurer MS, Falk RH, et al. . Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 2016;133:2404–2412. - PubMed
    1. Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry 2015;86:1036–1043. - PubMed
    1. McColgan P, Viegas S, Gandhi S, et al. . Oculoleptomeningeal amyloidosis associated with transthyretin Leu12Pro in an African patient. J Neurol 2015;262:228–234. - PMC - PubMed
    1. Sekijima Y, Wiseman RL, Matteson J, et al. . The biological and chemical basis for tissue-selective amyloid disease. Cell 2005;121:73–85. - PubMed
    1. Kobayashi Y, Sekijima Y, Ogawa Y, Kondo Y, Miyazaki D, Ikeda SI. Extremely early onset hereditary ATTR amyloidosis with G47R (p.G67R) mutation. Amyloid 2016;23:205–206. - PubMed

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