Inherited Encephalopathies Resembling Migraine
Mitochondrial myopathy and encephalopathy, lactic acidosis, and strokelike episodes (MELAS) is a hereditary mitochondrial disorder occurring in children and young adults. Its symptoms (headache, nausea, vomiting, transient hemianopia, and hemiparesis) suggest migraine, but permanent neurologic disturbance occurs with spongiform cortical degeneration. Serum and cerebrospinal fluid (CSF) lactate levels are elevated, and hyperintense lesions may be observed on T2-weighted magnetic resonance imaging (MRI) of the temporal, parietal, and occipital lobes.
Headache resembling migraine may also occur as the initial symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an autosomal dominant angiopathy that is associated with a mutation in the NOTCH3 gene on chromosome 19. Headaches occur in 30%–40% of patients with CADASIL and often arise later in life than typical migraine. Recurrent lacunar strokes with neurologic deficits and cognitive decline eventually occur. Widespread leukoencephalopathy, particularly within the temporal and frontal lobes, is apparent on MRI.
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Excerpted from BCSC 2020-2021 series: Section 5 - Neuro-Ophthalmology. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.