MELAS and macroangiopathy: A case report and literature review.

Abstract:

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.

journal_name

Medicine (Baltimore)

journal_title

Medicine

authors

Sun X,Jiang G,Ju X,Fu H

doi

10.1097/MD.0000000000013866

subject

Has Abstract

pub_date

2018-12-01 00:00:00

pages

e13866

issue

52

eissn

0025-7974

issn

1536-5964

pii

00005792-201812280-00066

journal_volume

97

pub_type

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