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无明显家族史患者的成人起病型线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)

Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History.

作者信息

Kamath Shiwani, Duggal Neel A, Ulhaque Abid, Taylor Elliott, Desai Parth

机构信息

Internal Medicine, Medical Center of Trinity, Trinity, USA.

Radiology, Medical Center of Trinity, Trinity, USA.

出版信息

Cureus. 2022 Jan 25;14(1):e21597. doi: 10.7759/cureus.21597. eCollection 2022 Jan.

DOI:10.7759/cureus.21597
PMID:35228955
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8869280/
Abstract

This case reports a 53-year-old Caucasian female previously diagnosed with viral encephalitis and Fahr's Syndrome who presented with altered mental status. Shortly after arrival, she displayed severe lactic acidosis and was transferred to the intensive care unit (ICU), where she had a brief seizure. Neurological workup was performed including carotid ultrasound, magnetic resonance angiography (MRA) brain, and computed tomography (CT) angiogram of the neck, all of which were unremarkable. Initial magnetic resonance imaging (MRI) performed showed small, acute ischemic foci in the bilateral occipital lobes and medial left thalamus. Subsequent diffusion-weighted imaging (DWI) MRI of the bilateral occipital lobes showed vasogenic edema, a common finding in Mitochondrial Encephalopathy, Lactic Acid, and Stroke-like episodes (MELAS). The patient was given Levetiracetam and managed supportively. She was progressively extubated and her seizure symptoms and lactic acidosis resolved. Our case represents a unique case in which a patient with non-contributory family history is first diagnosed with MELAS after age 40 after her symptoms were initially attributed to other pathologies.

摘要

本病例报告了一名53岁的白种女性,既往诊断为病毒性脑炎和法尔氏综合征,此次出现精神状态改变。入院后不久,她出现严重乳酸酸中毒,并被转入重症监护病房(ICU),在那里她发生了一次短暂的癫痫发作。进行了神经学检查,包括颈动脉超声、脑部磁共振血管造影(MRA)以及颈部计算机断层扫描(CT)血管造影,所有结果均无异常。最初的磁共振成像(MRI)显示双侧枕叶和左侧丘脑内侧有小的急性缺血灶。随后对双侧枕叶进行的扩散加权成像(DWI)MRI显示血管源性水肿,这是线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)的常见表现。给予患者左乙拉西坦并进行支持治疗。她逐渐脱机,癫痫症状和乳酸酸中毒得到缓解。我们的病例是一个独特的案例,一名无家族病史的患者在40岁后最初症状被归因于其他疾病,最终被诊断为MELAS。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/1f2cb528d38f/cureus-0014-00000021597-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/2d2a13132104/cureus-0014-00000021597-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/d595c095166c/cureus-0014-00000021597-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/0750a0e82fb0/cureus-0014-00000021597-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/7971d04e5d63/cureus-0014-00000021597-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/1f2cb528d38f/cureus-0014-00000021597-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/2d2a13132104/cureus-0014-00000021597-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/d595c095166c/cureus-0014-00000021597-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/0750a0e82fb0/cureus-0014-00000021597-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/7971d04e5d63/cureus-0014-00000021597-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c00b/8869280/1f2cb528d38f/cureus-0014-00000021597-i05.jpg

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