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Table 2 Literature Review

From: Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children

Structural Brain Abnormalities

Literature data

Our sample data

MRI (frequency) [2, 13, 30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46]

CT [11, 24, 23, 22, 36, 41, 42, 47,48,49,50,51,52,53,54]

US [31, 23, 22, 55,56,57,58,59,60,61,62,63,64,65,66]

Undetermined scan [3, 23]

Autopsy [57, 59,60,61, 63, 64, 67,68,69,70,71,72,73,74,75]

Total reported cases (frequency)

Total reported cases (frequency)

Reduced brain trophism

14 (30%)

8

2

-

-

21 (18%)

23 (74%)

Ventricular abnormalities

16 (35%)

4

9

3

7

31(26%)

20 (65%)

Corpus callosum

11 (24%)

1

-

5

2

17 (14%)

18 (58%)

White matter abnormalities

3 (7%)

 

1

2

2

9 (8%)

7 (22%)

Cerebellar structural defects

1 (2%)

2

1

-

5

8 (7%)

3 (10%)

Hydrocephalus/hygromas

1 (2%)

3

-

-

3

7 (6%)

2 (6%)

Polymicrogyria

4 (9%)

1

-

-

2

6 (5%)

15 (48%)

Pachygyria

3 (7%)

-

-

-

-

3 (3%)

-

Cisterna magna

-

-

3

-

1

3 (3%)

15 (48%)

Pineal gland

1 (2%)

-

-

-

-

1 (1%)

18 (58%)

Calcification

-

3

2

-

1

6 (5%)

-

Others*

1 (2%)

2

1

-

3

8 (7%)

-

No abnormal features

13 (28%)

9

3

12

3

40 (34%)

1 (3%)

Total neuroimaging scans

46 (100%)

21 (100%)

21 (100%)

24 (100%)

21 (100%)

119 (100%)

31(100%)

  1. Legend: MRI = magnetic resonance imaging; CT = computer tomography; US = ultrasound; *=olfactory nerve, germinal matrix hemorrhage and ischemic thrombi in the subependymal veins, atrophic brainstem, small cava septi pellucidi