Hereditary haemorrhagic telangiectasias with recurrent ischemic stroke hinted by manganese deposition in the basal ganglia: a case report and literature review.
Arteriovenous malformations
Case report
Hereditary hemorrhagic telangiectasia
Ischemic stroke
Manganese deposition
Journal
BMC neurology
ISSN: 1471-2377
Titre abrégé: BMC Neurol
Pays: England
ID NLM: 100968555
Informations de publication
Date de publication:
07 Oct 2024
07 Oct 2024
Historique:
received:
04
10
2023
accepted:
27
09
2024
medline:
8
10
2024
pubmed:
8
10
2024
entrez:
7
10
2024
Statut:
epublish
Résumé
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant inherited vascular disorder that can involve multiple organs, thus can be associated with so many clinical departments that proper screening and diagnosis of HHT are needed for providing better management of both patients and their family members. We present a 58-year-old female patient with recurrent paradoxical brain embolism due to HHT. She received aspirin therapy and underwent pulmonary arteriovenous malformation embolization, recovering well and discharged 3 days postoperatively. Though ischemic stroke caused by HHT-induced vascular disorders has been reported, our patient presented with both recurrent paradoxical brain embolisms and radiologic findings of bilateral globus pallidus manganese deposition at the same time, a combination rarely reported. We also review the literature on the clinical features and management of HHT for prompt diagnosis of this genetic disease behind paradoxical embolism. When patients with ischemic stroke, especially recurrent ischemic stroke, have combined arteriovenous malformations (AVMs) in single or multiple organs, or clues for AVMs like manganese deposition in globus pallidus, genetic diseases such as HHT may be the reason for ischemic stroke and shouldn't be missed in the evaluation of embolic sources.
Sections du résumé
BACKGROUND
BACKGROUND
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant inherited vascular disorder that can involve multiple organs, thus can be associated with so many clinical departments that proper screening and diagnosis of HHT are needed for providing better management of both patients and their family members.
CASE PRESENTATION
METHODS
We present a 58-year-old female patient with recurrent paradoxical brain embolism due to HHT. She received aspirin therapy and underwent pulmonary arteriovenous malformation embolization, recovering well and discharged 3 days postoperatively. Though ischemic stroke caused by HHT-induced vascular disorders has been reported, our patient presented with both recurrent paradoxical brain embolisms and radiologic findings of bilateral globus pallidus manganese deposition at the same time, a combination rarely reported. We also review the literature on the clinical features and management of HHT for prompt diagnosis of this genetic disease behind paradoxical embolism.
CONCLUSIONS
CONCLUSIONS
When patients with ischemic stroke, especially recurrent ischemic stroke, have combined arteriovenous malformations (AVMs) in single or multiple organs, or clues for AVMs like manganese deposition in globus pallidus, genetic diseases such as HHT may be the reason for ischemic stroke and shouldn't be missed in the evaluation of embolic sources.
Identifiants
pubmed: 39375614
doi: 10.1186/s12883-024-03889-5
pii: 10.1186/s12883-024-03889-5
doi:
Substances chimiques
Manganese
42Z2K6ZL8P
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
375Informations de copyright
© 2024. The Author(s).
Références
Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax. 1999;54(8):714–29.
doi: 10.1136/thx.54.8.714
pubmed: 10413726
pmcid: 1745557
Albitar HAH, Segraves JM, Almodallal Y, Pinto CA, De Moraes AG, Iyer VN. Pulmonary arteriovenous malformations in non-hereditary hemorrhagic telangiectasia patients: an 18-Year retrospective study. Lung. 2020;198(4):679–86.
doi: 10.1007/s00408-020-00367-w
pubmed: 32648120
Donaldson JW, McKeever TM, Hall IP, Hubbard RB, Fogarty AW. The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study. Thorax. 2014;69(2):161–7.
doi: 10.1136/thoraxjnl-2013-203720
pubmed: 24188926
Guttmacher AE, McKinnon WC, Upton MD. Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community. Am J Med Genet. 1994;52(2):252–3.
doi: 10.1002/ajmg.1320520232
pubmed: 7802026
Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat. 2002;19(2):140–8.
doi: 10.1002/humu.10026
pubmed: 11793473
Westermann CJ, Rosina AF, De Vries V, de Coteau PA. The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the afro-caribbean population of the Netherlands Antilles: a family screening. Am J Med Genet Part A. 2003;116a(4):324–8.
doi: 10.1002/ajmg.a.10002
pubmed: 12522784
Shovlin CL. Pulmonary arteriovenous malformations. Am J Respir Crit Care Med. 2014;190(11):1217–28.
doi: 10.1164/rccm.201407-1254CI
pubmed: 25420112
pmcid: 4315816
Cottin V, Chinet T, Lavolé A, Corre R, Marchand E, Reynaud-Gaubert M, et al. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. Medicine. 2007;86(1):1–17.
doi: 10.1097/MD.0b013e31802f8da1
pubmed: 17220751
Bofarid S, Hosman AE, Mager JJ, Snijder RJ, Post MC. Pulmonary vascular complications in Hereditary Hemorrhagic Telangiectasia and the underlying pathophysiology. Int J Mol Sci. 2021;22(7).
Gossage JR, Kanj G. Pulmonary arteriovenous malformations. A state of the art review. Am J Respir Crit Care Med. 1998;158(2):643–61.
doi: 10.1164/ajrccm.158.2.9711041
pubmed: 9700146
Thompson T, Evans W. Paradoxical embolism. QJM: Int J Med. 1930;os–23(90):135–50.
doi: 10.1093/qjmed/os-23.90.135
Parvinian A, Iyer VN, Pannu BS, Apala DR, Wood CP, Brinjikji W. Basal ganglia T1 hyperintensity in Hereditary Hemorrhagic Telangiectasia. AJNR Am J Neuroradiol. 2017;38(10):1929–33.
doi: 10.3174/ajnr.A5322
pubmed: 28775059
pmcid: 7963611
Yoshikawa K, Matsumoto M, Hamanaka M, Nakagawa M. A case of manganese induced parkinsonism in hereditary haemorrhagic telangiectasia. J Neurol Neurosurg Psychiatry. 2003;74(9):1312–4.
doi: 10.1136/jnnp.74.9.1312
pubmed: 12933943
pmcid: 1738686
McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8(4):345–51.
doi: 10.1038/ng1294-345
pubmed: 7894484
Mirowitz SA, Westrich TJ, Hirsch JD. Hyperintense basal ganglia on T1-weighted MR images in patients receiving parenteral nutrition. Radiology. 1991;181(1):117–20.
doi: 10.1148/radiology.181.1.1909445
pubmed: 1909445
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91(1):66–7.
doi: 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P
pubmed: 10751092
Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, et al. Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Blood. 2020;136(17):1907–18.
doi: 10.1182/blood.2019004560
pubmed: 32573726
pmcid: 7717479
Kumar N, Boeve BF, Cowl CT, Ellison JW, Kamath PS, Swanson KL. Hypermanganesemia, hereditary hemorrhagic telangiectasia, brain abscess: the hepatic connection. Neurology. 2008;71(14):1118–9.
doi: 10.1212/01.wnl.0000326959.44088.e0
pubmed: 18824676
Aschner M, Guilarte TR, Schneider JS, Zheng W. Manganese: recent advances in understanding its transport and neurotoxicity. Toxicol Appl Pharmcol. 2007;221(2):131–47.
doi: 10.1016/j.taap.2007.03.001
Serra MM, Besada CH, Cabana Cal A, Saenz A, Stefani CV, Bauso D, et al. Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2017;12(1):92.
doi: 10.1186/s13023-017-0632-2
pubmed: 28521822
pmcid: 5437640
Parambil JG. Hereditary Hemorrhagic Telangiectasia. Clin Chest Med. 2016;37(3):513–21.
doi: 10.1016/j.ccm.2016.04.013
pubmed: 27514597
Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, et al. Second International guidelines for the diagnosis and management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020;173(12):989–1001.
doi: 10.7326/M20-1443
pubmed: 32894695
Viteri-Noël A, González-García A, Patier JL, Fabregate M, Bara-Ledesma N, López-Rodríguez M et al. Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, diagnosis, and management. J Clin Med. 2022;11(17).
Agarwal J, LaBranche J, Dhillon S, Allison WT, Jeerakathil T, Vethanayagam D. Neurologic Complications in Hereditary Hemorrhagic Telangiectasia with Pulmonary Arteriovenous Malformations: A Systematic Review. The Canadian journal of neurological sciences Le journal canadien des sciences neurologiques. 2022/06/11 ed2022. pp. 561 – 72.
Delagrange L, Dupuis O, Fargeton AE, Bernard L, Decullier E, Dupuis-Girod S. Obstetrical and neonatal complications in hereditary haemorrhagic telangiectasia: a retrospective study. BJOG: Int J Obstet Gynecol. 2023;130(3):303–11.
doi: 10.1111/1471-0528.17303
Ma X, Li LL, Yu D, Jie B, Jiang S. Management of pulmonary arteriovenous malformations involves additional factors aside from the diameter of feeding arteries: a 3-year case-case retrospective analysis. Respir Res. 2022;23(1):107.
doi: 10.1186/s12931-022-02030-9
pubmed: 35501913
pmcid: 9063074
Topiwala KK, Patel SD, Pervez M, Shovlin CL, Alberts MJ. Ischemic stroke in patients with Pulmonary Arteriovenous Fistulas. Stroke. 2021;52(7):e311–5.
doi: 10.1161/STROKEAHA.120.032073
pubmed: 34082575
Karlsson T, Cherif H. Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital. Ups J Med Sci. 2018;123(3):153–7.
doi: 10.1080/03009734.2018.1483452
pubmed: 30251589
pmcid: 6198721
Etievant J, Si-Mohamed S, Vinurel N, Dupuis-Girod S, Decullier E, Gamondes D, et al. Pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia: correlations between computed tomography findings and cerebral complications. Eur Radiol. 2018;28(3):1338–44.
doi: 10.1007/s00330-017-5047-x
pubmed: 29018941
Brinjikji W, Nasr DM, Wood CP, Iyer VN. Pulmonary arteriovenous malformations are Associated with Silent Brain infarcts in Hereditary Hemorrhagic Telangiectasia patients. Cerebrovascular diseases (Basel. Switzerland). 2017;44(3–4):179–85.
Boatta E, Jahn C, Canuet M, Garnon J, Ramamurthy N, Cazzato RL, et al. Pulmonary arteriovenous malformations embolized using a Micro Vascular Plug System: technical note on a preliminary experience. Cardiovasc Interv Radiol. 2017;40(2):296–301.
doi: 10.1007/s00270-016-1493-0
Sueda K, Horiuchi M, Funakoshi H, Hiraoka E. Embolic stroke caused by Hereditary Hemorrhagic Telangiectasia with Pulmonary Arteriovenous Malformation. J Gen Intern Med. 2020;35(12):3707–10.
doi: 10.1007/s11606-020-06126-0
pubmed: 32815056
pmcid: 7728913
Lu X, Hu WT, Li YD, Cheng YZ. Pulmonary arteriovenous malformation and paradoxical ischemic stroke in a patient with Hereditary Hemorrhagic Telangiectasia. JACC Cardiovasc Interventions. 2020;13(14):e127–9.
doi: 10.1016/j.jcin.2020.04.031
Abdulla Kyzy R, Durojaiye V, Walsh JL. Hereditary haemorrhagic telangiectasia with multiple complications presenting in an older patient. Age Ageing. 2019;48(2):307–9.
doi: 10.1093/ageing/afy160
pubmed: 30295705