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Table 1 Baseline clinical and radiological findings of NF1 patients younger than 3 years old

From: Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression

 

0–1 year (N = 8)

1–2 years (N = 45)

2–3 years (N = 17)

p value

Gender

    

 Male

3/8 (37.5%)

15/45 (33.3%)

11/17 (64.7%)

0.087

Inheritance

    

 Familial

0 (0.0%)

7/45(15.6%)

7/17 (41.2%)

0.011

 Sporadic

6/8 (75.0%)

37/45 (82.2%)

10/17 (58.8%)

 

 Unknown

2/8 (25.0%)

1/45 (2.2%)

0/17 (0.0%)

 

Clinical findings

    

 Café-au lait macules

8/8 (100%)

45/45 (100%)

17/17 (100%)

–

 Axillary freckling

2/5 (40.0%)

14/42 (33.3%)

12/15 (80.0%)

0.005

 Cutaneous neurofibromas

1/5 (20.0%)

4/23 (17.4%)

2/12 (16.7%)

1.000

 Relative macrocephaly

2/8 (25.0%)

22/42 (52.4%)

13/17 (76.5%)

0.052

 Lisch nodules

0/2 (0.0%)

3/10 (30.0%)

5/13 (38.5%)

0.205

 Short stature

0/8 (0.0%)

1/45 (2.2%)

1/17 (5.9%)

0.590

 Developmental delay

0/4 (0.0%)

2/26 (7.7%)

2/12 (16.7%)

0.721

 Seizure

1/3 (33.3%)

1/26 (3.8%)

0/9 (0.0%)

0.205

 Cardiac anomaly

1/2 (50.0%)

1/8 (12.5%)

–

0.378

 Hearing defect

–

0/12 (0.0%)

0/6 (0.0%)

–

Radiologic findings

    

 FASI

6/8 (75.0%)

26/45 (57.8%)

15/17 (88.2%)

0.056

 Optic pathway glioma

0/8 (0.0%)

4/45 (8.9%)

7/17 (41.2%)

0.006

 Moyamoya disease

0/8 (0.0%)

1/45 (2.2%)

0/17 (0.0%)

1.000

 Aneurysm

0/8(0.0%)

0/45 (0.0%)

0/17 (0.0%)

–

 Sphenoid wing dysplasia

0/8 (0.0%)

3/45 (6.7%)

2/17 (11.8%)

0.791

 Superficial neurofibromas

0/8 (0.0%)

2/45 (4.4%)

0/17 (0.0%)

1.000

 Deep localized neurofibromas

0/8 (0.0%)

2/45 (4.4%)

2/17 (11.8%)

0.574

 Plexiform neurofibromas

1/8 (12.5%)

3/45 (6.7%)

4/17 (23.5%)

0.171

 Scoliosis

0/8 (0.0%)

0/45 (0.0%)

1/17 (5.9%)

0.357

 Spinal dysplasia

0/8 (0.0%)

0/45 (0.0%)

0/17 (0.0%)

–

 Spinal dural ectasia

0/8 (0.0%)

6/45 (13.3%)

3/17 (24.3%)

0.572

 Long bond dysplasia

0/8 (0.0%)

4/45 (8.9%)

2/17 (11.8%)

0.842

 MPNST

0/8 (0.0%)

0/45 (0.0%)

0/17 (0.0%)

–

NF1+

2/8 (25.0%)

13/45 (28.9%)

12/17 (70.6%)

0.008

  1. FASI focal areas of signal intensity, MPNST malignant peripheral nerve sheath tumor