Late onset MELAS with m.3243A &gt; G mutation and its association with aneurysm formation

Zhu, Kun Yan; Li, Shuang; Chen, Huan; Wang, Yao; Yu, Miao; Wang, Hongyan; Zhao, Weijie; YunPeng, Cao

doi:10.1007/s11011-017-9989-0

Cited by 13 publications

(21 citation statements)

References 27 publications

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“…Nevertheless, MELAS presents as a cerebral infarct-like lesion in the occipital region and is reported to be associated with macroangiopathy. [23,26,27] Stiff-person syndrome manifests as epileptic muscle spasms of the trunk and limb proximal muscles, spreading throughout the whole body over the course of a few months. [23–25] In our patient, involuntary movements existed only in the left upper and lower extremities, and no lactic acidosis was noted.…”

Section: Discussionmentioning

confidence: 99%

Investigation of the relationship between non-ketotic hyperglycemia and hemichorea-hemiballism

Hsiao

Kuo

et al. 2019

Medicine

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Rationale: Hemichorea-hemiballism, a rare manifestation of non-ketotic hyperglycemia, characterized by involuntary arrhythmic motions involving one side of the body, results from focal lesions in the contralateral caudate nucleus and putamen. Hyperkinetic disorders can be complications of uncontrolled diabetes mellitus and should not be ignored. Patient concerns: We present the case of a 39-year-old woman who presented to the emergency department with a 3-day history of left-sided hemichorea-hemiballism. She had type 2 diabetes mellitus with poor control and maintenance of regular hemodialysis. Diagnoses: The patient was diagnosed as hyperglycemia, normal ketone body and hemichorea-hemiballism based on laboratory examination, computed tomography (CT) scan, and brain magnetic resonance image (MRI). Interventions: Intensive glycemic control via insulin injection was prescribed for correction of hyperglycemia. Outcomes: The unilateral involuntary movements subsided progressively over four weeks. The patient's hemichorea had completely resolved at the three-month follow-up. Lessons: This unusual clinical presentation is often accompanied by severe hyperglycemia. Appropriate blood glycemic control is important. If physicians recognize and provide early treatment for this disease, it is usually treatable and has a good prognosis.

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Section: Discussionmentioning

confidence: 99%

Investigation of the relationship between non-ketotic hyperglycemia and hemichorea-hemiballism

Hsiao

Kuo

et al. 2019

Medicine

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“…However, the present case provided evidence that the vessel wall was a target of damaged mitochondrial respiration. With the popularization of cerebrovascular imaging, the changes of intracranial and extracranial vessels were observed in some patients with stenosis, [10] Moyamoya syndrome, [11] reversible vasoconstriction, [12] aneurysms, [13] dissection, [7] and atherosclerosis. [14] Some cases may be associated with cerebral lesions, while others may not (Table 2).…”

Section: Discussionmentioning

confidence: 99%

MELAS and macroangiopathy

Sun

Jiang²,

Ju³

et al. 2018

Medicine

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Rationale:Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are thought to be rarely accompanied by macroangiopathy. We reported a case of MELAS that presented right distal internal carotid arterial (ICA) stenosis and reviewed 12 similar previously reported cases involving intracranial large blood vessels.Patient concerns:A 38-year-old man suffered from recurrent stroke-like episodes (SE) such as alternating hemiparesis (right lesion 3 years ago and current left lesion), cortical blindness and seizure for 3 years, and was previously misdiagnosed as cerebral infarction. Magnetic Resonance Angiography (MRA) and Digital Subtraction Angiography (DSA) revealed right distal ICA stenosis and sparse cortex blood vessels, which were related to the previous SE.Diagnoses:He was diagnosed by genetic screening (a mitochondrial DNA A3243G point mutation) and presence of high lactic acidosis (4.03 mmol/L), which rose to 7.8 mmol/L after exercise.Intervention:The patient received Coenzyme Q10, vitamin C, L-arginine for 2 weeks and valproic acid sodium (400 mg bid) to prevent seizures till now.Outcomes:He is currently less active and intelligent than his peers, with occasional seizures, and needs family care.Lessons:Till date, there are 12 reported cases of MELAS combined with major cerebral arteries abnormalities including stenosis, dissection, occlusion, reversible vasoconstriction, aneurysms, and atherosclerosis. Hence, macroangiopathy in MELAS is not very rare. There is correlation between the affected vessels and the lesions in some cases, but not in others, which may increase the misdiagnosis rate. Hence, mitochondrial diseases cannot be excluded due to concurrent macroangiopathic lesions

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“…With interest we read the article by Zhu et al about a 54yo male with MELAS due to the mutation m.3243A > G in the tRNA (Leu) gene manifesting as short stature, stroke-like episodes (SLEs), and macroangiopathy (Zhu et al 2017). We have the following comments and concerns.…”

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confidence: 99%

“…Macroangiopathy in MIDs may manifest as atherosclerosis, ectasia of arteries (aortic root, intracerebral arteries, abdominal aorta) (Finsterer and Zarrouk-Mahjoub 2016), aneurysm formation (intracerebral arteries) (Zhu et al 2017), as arterio-venous malformation (Scuderi et al 2015), or as reversible vasoconstriction (Yoshida et al 2013) (Table 1). The reason why macroangiopathy is not more frequently attributed to a MID is due to the fact the MIDs go frequently undetected for years and is often misdiagnosed and mistreated.…”

mentioning

confidence: 99%