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Clinical-radiological-pathological correlation in an unusual case of refractory epilepsy: a two-year journey of whodunit! Volume 20, numéro 1, February 2018

Figure 1

(A) FLAIR axial MRI from November 2013, showing left parieto-occipital gyral swelling (A1 and A2). (B) Images from April 2014 showing the persistence of focal left parieto-occipital gyral oedema (B1-B3) with increased perfusion in the peri-ictal image (B4-B5) and double inverted lactate peak, as indicated by the white arrow (B6). (C) Images from July 2014 demonstrating the disappearance of gyral oedema (C1-C4) and normal perfusion pattern (C5-C6).

Figure 2

(A) Pre-operative MRI from November 2014 showing FLAIR hyperintensities over the left parietal and entire left occipital region (A1, A2, A5) with diffusion restriction over the left parietal cortex (A3-A4) and left medial parieto-occipital junction (A7-A8), with normal TOF MR angiogram (A6) and digital subtraction angiogram (A9). (B) Ictal EEG showing a focal ictal rhythm over the left posterior cortex (arrow) (bipolar montage; sensitivity: 7 μV/mm; low-pass filter: 50 Hz; high-pass filter: 1.6 Hz; notch filter: 50 Hz). (C) Post-operative FLAIR image showing scar of the left occipital lobectomy (C1) and new hyperintensity over the right frontal region (C2; May 2015). (D) Scar of left occipital lobectomy in MRI performed in February 2016 following treatment with steroids and rituximab showing disappearance of right frontal hyperintensity.

Figure 3

Histopathology of lobectomy specimen. (A) H&E and (B) GFAP stain showing oedematous vacuolation of lower layers corresponding to laminar necrosis” with a band of reactive astrocytes along this zone, as indicated by the arrows. (C) Focal loss of neurons in layer 3 with few enlarged neurons, as indicated by arrows. (D, E) White matter vacuolation of myelin sheaths, suggestive of intramyelinic oedema (H&E and Luxol blue stain). (F) Enlarged neurons with neurofilament accumulation and abnormal branching (dystrophic change). (G, H) Beaded and dystrophic changes in glial processes and axons. (I) Diffuse microglial response without microglial nodule formation.

Figure 4

NMDAR IgG auto-antibody in CSF. Using a cell-based assay, NMDAR IgG auto-antibody in CSF with reflex to titre was detected using a commercial anti-glutamate receptor NR1 subunit kit (Euroimmune AG. Luebeck, Germany) by indirect immunofluorescence. The CSF sample of the patient was incubated with NMDAR substrate antigen on the biochip slide in the following dilutions: undiluted, 1:10, 1:20, and 1:40 in PBS-Tween at room temperature for 30 minutes. After the incubation, the biochip slides were washed with PBS-Tween to remove any unbound antibodies. The biochip slide was again incubated with fluorescent-labelled anti-human IgG for 30 minutes at room temperature and washed with PBS-Tween and mounted in buffered glycerin. The reaction was made visible under a fluorescence microscope. The presence of anti-NMDAR antibody is shown as smooth fine granular fluorescence in the cytoplasm of transfected HEK 293 cells, while there is no fluorescence in the negative control. Positive fluorescence was demonstrated in (A) undiluted CSF; (B) 1:10 diluted CSF; and (C) 1:20 diluted CSF; no fluorescence was present in the negative control (CSF, undiluted), supplied with the kit (D).