Table 5 Clinical features in patients with NF1

Learning disability

25 (65.8)

38

Developmental delay

20 (43.5)

46

 Speech/language

10 (21.7)

 Global

9 (19.6)

 Gross motor

1 (2.2)

Headache

17 (34)

^b 50

ADHD

14 (28)

^b 50

Seizures

8 (16.3)

49

Hypertension

2 (4.8)

42

Neurofibromas

27 (71.1)

38

Excision and/ or debulking of neurofibromas

7 of 27

Other tumors

28 (59.6)

47

Tumor resection

8 of 28

 Optic pathways glioma

21 (44.7)

 Sarcoma

4 (8.5)

 Astrocytoma

4 (8.5)

 Hemangioma

2 (4.3)

 Glioma (excluding optic pathways)

1 (2.1)

 Craniopharyngioma

1 (2.1)

 Wilm’s tumor

1 (2.1)

 Ovarian renin-secreting tumor

1 (2.1)

Bony abnormalities

17 (51.5)

33

 Scoliosis

12 (36.4)

 Other

4 (12.1)

 Sphenoid bone dysplasia

1 (3.3)

Family history of NF1

50

 Absent

26 (52)

 First-degree relative

10 (20)

 First and second-degree relative

11 (22)

 First, second and third-degree relative

3 (6)

Café-au-lait macules

50 (100)

50

Axillary and/ or inguinal freckling

40 (88.89)

45

 Axillary only

18 (40)

 Inguinal only

2 (4.4)

 Both axillary and inguinal

20 (44.4)

Decreased visual acuity

9 (19.1)

47

Abnormal visual fields

12 (38.7)

31

Lisch nodules

17 (47.2)

36

Optic disc pallor

18 (40.9)

44

Abnormal pupillary response

5 (12.2)

41

Strabismus

10 (34.5)

29

Nystagmus

4 (25)

16

Decreased tone

9 (23.1)

39

Increased tone

3 (7.7)

39

Decreased strength

6 (15.4)

39

Increased upper/ lower limb reflexes

3 (7.9)/ 8 (21.1)

38

Decreased upper/ lower limb reflexes

4 (10.5)/ 2 (5.3)

38

Clonus

2 (16.7)

12

Babinski sign

3 (8.6)

35

Wheelchair use or other assistive devices

3 (6.8)

44

Clumsy gait and/ or difficulty with fine motor coordination

20 (40)

50