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Table 2 Correlation of neuropathology with neuroimaging findings

From: Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb

ID

MRI localization

MRI class

MRI alterations in GM and/or WM

Histopath of WM

Balloon cells

vacuolizing phenotype

Remote DN

DN density

1

Left F

Subtle

T2 blurred GM/WM junction with cortical dimple

+

+

67 [± 0]

2

Right F

Negative

None visible

+

NA

3

Right F

Distinct

FLAIR blurred GM/WM junction, TMS

+

+

42.5 [± 3.5]

4

Right F

Negative

None visible

+

+

58 [± 8]

5

Right F

Subtle

FLAIR blurred GM/WM junction, T1 cortex hyperintensity, no TMS

+

+

43.5 [± 11.5]

6

Left F

Subtle

Cortical thickening, GM/WM T2 hypointense and T1 hyperintense at 3 months, no TMS

++

96.5 [± 9.5]

7

Left F

Distinct

Cortical thickening, GM/WM T2 hypointense and T1 hyperintense at 10 months, no TMS

++

89 [± 3]

8

Left TP

Subtle

FLAIR cortical thickening, FLAIR blurred GM/WM junction, no TMS

+

NA

9

Right FI

Hem

HME—cortical thickening, GM/WM T2 hypo-/T1-hyperintense at 5 months, no TMS

++

42.5 [± 8.5]

10

Left F

Subtle

T2 + FLAIR cortical thickening T2 + FLAIR blurred GM/WM junction, no TMS

+

+

95.5 [± 12.5]

11

Right FPO

Hem

HME—cortical thickening, GM/WM T2 hypointense at 3 months, no TMS

+

+

+++

37 [± 2]

12

Left F

Uncertain

MRI of low quality, pacemaker implantation

+

++

27 [± 5]

13

Right H

Hem

HME—cortical thickening, GM/WM T2 hypointense at 3 months, no TMS

++

14.5 [± 4.5]

14

Left F

Distinct

GM/WM FLAIR hyperintense, T1 hypointense, TMS

+

+

+++

33 [± 4]

15

Right F

Distinct

FLAIR blurred GM/WM junction, TMS

+

+

+

73.5 [± 12.5]

16

Left PO

Distinct

Thickened cortex, GM/WM T2 hyperintense, T1 isointense at 7 months, no TMS

+

+

44 [± 1]

17

Right F

Distinct

Cortical thickening w sulcal dimple, GM/WM T2 hypointense at 5 months, no TMS

+

+

+++

70 [± 17]

  1. LID same as in Table 1; MRI findings: All images from MRI datasets were reviewed and classified as “distinct”, e.g., thickened neocortex with distinct signal intensity change in T1, T2 and/or FLAIR with or without transmantle sign (TMS), or “subtle”, e.g. grey/white matter (GM/WM) blurring and/or altered gyration patterns, hem hemispheric, HME hemimegalencephaly, PMG polymicrogyria, WM white matter affection, Balloon cells and vacuolizing phenotype: + positive, − negative, DN density dysmorphic neurons per mm2 as mean ± standard deviation, NA surgical specimen fragmented and not available for analysis; Remote DN dysmorphic neurons remote from the focal abnormality (> 5 mm) graduated in three different levels: + = single DN > 5 mm remote from the lesion, ++ = small clusters of DN > 5 mm remote from the lesion; +++ = abundant DN > 5 mm in continuity to the core lesion; MRI Localization localization of lesion on MRI with side and lobe(s), F frontal, P parietal, O occipital, T temporal, H hemisphere, FLAIR fluid attenuated inversion recovery, T1 T1 weighted image, T2 T2 weighted image