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遗传性出血性毛细血管扩张症合并肝性脑病时的弥漫性脑水肿及即将发生的脑疝

Diffuse Cerebral Edema and Impending Herniation Complicating Hepatic Encephalopathy in Hereditary Hemorrhagic Telangiectasia.

作者信息

Mylavarapu Charisma, Lu Alexander J, Burns Ethan A, Samorajski Justin, Gotur Deepa, Baker Kelty

机构信息

Houston Methodist Department of Medicine, Houston Methodist Hospital, 6550 Fannin St, Suite 1001, Houston, TX 77030, USA.

Houston Methodist Cancer Center, Houston Methodist Hospital, 6445 Main St, Outpatient Center, Floor 24, Houston, TX 77030, USA.

出版信息

Case Rep Med. 2022 Feb 18;2022:2612544. doi: 10.1155/2022/2612544. eCollection 2022.

DOI:10.1155/2022/2612544
PMID:35222647
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8881178/
Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease characterized by the formation of cutaneous and visceral telangiectasias and arteriovenous malformations (AVM). Multiple organs may be affected, including the nasal mucosa, skin, lungs, gastrointestinal tract, and brain. The following case highlights a unique manifestation of HHT in a patient with a gastrointestinal hemorrhage and epistaxis, resulting in hyperammonemia and diffuse cerebral edema and herniation. Clinicians should be aware of this potential complication in such patients and initiate ammonia-reducing agents early to avoid this devastating consequence.

摘要

遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性血管疾病，其特征为皮肤和内脏出现毛细血管扩张以及动静脉畸形（AVM）。多个器官可能受累，包括鼻黏膜、皮肤、肺、胃肠道和脑。以下病例突出了HHT在一名患有胃肠道出血和鼻出血患者中的独特表现，导致高氨血症、弥漫性脑水肿和脑疝。临床医生应意识到此类患者存在这种潜在并发症，并尽早启动降氨药物以避免这种灾难性后果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/a7d421032f47/CRIM2022-2612544.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/1763f2e82e54/CRIM2022-2612544.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/40240caeeb85/CRIM2022-2612544.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/b8d5968476eb/CRIM2022-2612544.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/ec35e233318e/CRIM2022-2612544.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/a7d421032f47/CRIM2022-2612544.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/1763f2e82e54/CRIM2022-2612544.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/40240caeeb85/CRIM2022-2612544.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/b8d5968476eb/CRIM2022-2612544.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/ec35e233318e/CRIM2022-2612544.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b9/8881178/a7d421032f47/CRIM2022-2612544.005.jpg

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Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.遗传性出血性毛细血管扩张症诊断与管理的第二版国际指南。
Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8.
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Pathophysiological mechanisms of hepatic encephalopathy.肝性脑病的病理生理机制。
Clin Liver Dis (Hoboken). 2015 Apr 21;5(3):59-63. doi: 10.1002/cld.445. eCollection 2015 Mar.
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Lactulose to the Rescue: A Case of Toxic Hepatic Encephalopathy Caused by Portosystemic Shunting and Epistaxis in a Patient with Hereditary Hemorrhagic Telangiectasia.
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European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT).欧洲罕见血管疾病参考网络（VASCERN）遗传性出血性毛细血管扩张症（HHT）结局指标。
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The Pharmabiotic Approach to Treat Hyperammonemia.采用益生菌治疗高血氨症。
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