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Lynch syndrome-associated repeated stroke with MLH1 frame-shift mutation
We describe the case of a 34-year-old female patient with 50  days of sudden dizziness and left limb weakness, whose head CT scan showed large infarction in the right frontal temporal parietal lobe and basal ganglia area. Imaging examinations and pathological biopsy indicated high-grade serous carcinoma (HGSC) IIIA1 of the right ovary. In addition, a novel f rame-shift mutation in the MLH1 gene (c.1621dupG, p.A541Gfs*16) was found in the genetic panel sequence. It may render declining of MLH1 protein and also associate with the patient’s progressive clinical manifestations of multiple systems. Therefore, the timely use ...
Source: Neurological Sciences - January 12, 2021 Category: Neurology Source Type: research