PMC9194843_01
Pedigree of the family. The arrow indicates the proband. Asterisks indicate the proline-rich transmembrane protein 2 mutation (c.604-607del).
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She had a family history of PKD (Fig. 1).
Interictal electroencephalography (EEG) (bipolar montage, high-pass filter: 1.59 Hz, low-pass filter: 60 Hz) revealed sharp waves over the left temporal region (red dot). (B) EEG of a focal impaired awareness seizure (Cz referential montage, high-pass filter: 1.59 Hz, low-pass filter: 60 Hz). This seizure started during wakefulness. The ictal EEG change started (blue arrow) with rhythmic activity over the left temporal region (red bars) followed by no apparent change for 10 s. Rhythmic activity then restarted from the left temporal area, followed by evolution over the left hemisphere, and then suddenly stopped (red arrow). Two and one-half seconds after the onset of the ictal EEG change, a clinical seizure appeared (yellow arrow). The patient suddenly stopped motion and lowered her eyes without aura of a seizure. (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.)
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The interictal EEG revealed sharp waves over the left temporal regions (Fig. 2A). Ictal EEG started with rhythmic theta activity over the left temporal region with evolution to involve all electrodes over the left hemisphere (Fig. 2B).
Brain MRI showing axial fluid-attenuated inversion recovery (FLAIR) images (A, B and C), a coronal FLAIR image (D), and a sagittal spoiled gradient recalled echo image (E). Mild cerebellar atrophy and expansion of the fourth ventricle (A, B and E) were observed, especially in the upper cerebellum (yellow arrow). Although mild cortical atrophy was observed (D and E), bilateral hippocampi and amygdala were normal. (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.)
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Brain magnetic resonance imaging (MRI) showed mild cerebellar atrophy (Fig. 3).
Proline-rich transmembrane protein 2 mutations identified in this patient, her father, and her sister. Sanger sequencing shows deletion of TCAC at position 604-607, which changed the reading frame. The red arrows indicate heterozygous. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)
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Although this variant was not detected, the c.604_607del variant was detected in the father, sister, and the patient, but not in the mother (Fig. 4).