Slide 063 — Neurofibromatosis

Clean FRCS notes with inline figures

Neurofibromatosis

•Three types

•- 1 (NIH consensus)

•- 2 + bilateral vestibular schwannomas

•- Segmental NF (single body segment)

•NIH consensus 1987

•2/7

Family history of 1st degree relative

•Skin lesion 1 (Café au lait spot > 6 15mm in adult, 5mm in children)

•Skin lesion 2 (Axillary and groin freckles)

•Nerve lesion (Neurofibroma x 2 / plexiform neurofibroma)

•Bone lesion (Distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis) Tibial pseudoarthrosis

•Eye lesion 1 (Lisch nodule x 2 = iris harmatoma)

•Eye lesion 2 (Optic glioma)

•(Updated in 2021: + gene analysis of NF1 + more specific bone and eye diagnosis)

•Plexiform neurofibroma is pathognomonic for NF 1, in 4%, → neurofibrosarcoma

•Other orthopedic manifestation

•Scoliosis (dystrophic / idiopathic-like form)

•Thoracic kyphoscoliosis with a short segmented and sharp curve with distorted ribs and vertebrae

•AP: Acute short segment curve, atypical level, penciling of ribs (>=3 poor prognosis because of rapid progression), TP spindling, hypoplastic pedicles

•Lat: posterior scalloping and wedging of VB, foramina ectasia

•Transverse: widened canal (increase interpedicular distance)

•**MRI: dumbbell lesion (neurofibroma on nerve root), dural ectasia (circumferential dilatation of dural sacs → destabilize spine), meningocele

•Brace no use, OT early (cobb >20) , Decompression, ASF & PSF with instrumentation

•2. Hemihypertrophy

•3. Atlantoaxial instability

•Inheritance

•AD (50%)/ sporadic (50%)

•100% penetrance

•NF1 gene on chromosome 17q21

•Abnormal coding of neurofibromin protein, Affecting RAS which affect osteoclast

•Difficulty with scoliosis surgery: (3 bone, 3 soft tissue + nonunion)

•Poor bone stock

•Significant deformity with kyphosis

•Small pedicles, high risk of nerve injury

•Higher rate of incidental durotomy (intraspinal abnormality)

•Bleeding due to extradural venous plexus

•Risk of rib dislocation during reduction causing nerve injury

•Poor healing, may need A+P (pseudoarthrosis PSF alone up to 40%, A+P 10%)

•Prognosis

•Normal life expectancy

•High chance of malignancy and hypertension

•Malignant transformation

•Elephantiasis (large mass with vollous skin)

•Plexiform NF “bag of worms”, filariasis

Clinical:

•Age: 36-50yo

•Sudden pain and increase in size, biopsy to rule out neurofibrosarcoma

Direct Q&A

Q1 What diagnostic or radiographic findings support Neurofibromatosis?

Neurofibromatosis

•Three types

•- 1 (NIH consensus)

•- 2 + bilateral vestibular schwannomas

•- Segmental NF (single body segment)

•NIH consensus 1987

•2/7

Family history of 1st degree relative

•Skin lesion 1 (Café au lait spot > 6 15mm in adult, 5mm in children)

•Skin lesion 2 (Axillary and groin freckles)

Q2 What thresholds, cut-offs, or criteria are listed under Family history of 1st degree relative?

•Skin lesion 1 (Café au lait spot > 6 15mm in adult, 5mm in children)

•Skin lesion 2 (Axillary and groin freckles)

•Nerve lesion (Neurofibroma x 2 / plexiform neurofibroma)

•Bone lesion (Distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis) Tibial pseudoarthrosis

•Eye lesion 1 (Lisch nodule x 2 = iris harmatoma)

•Eye lesion 2 (Optic glioma)

•(Updated in 2021: + gene analysis of NF1 + more specific bone and eye diagnosis)

•Plexiform neurofibroma is pathognomonic for NF 1, in 4%, → neurofibrosarcoma

•Other orthopedic manifestation

•Scoliosis (dystrophic / idiopathic-like form)

•Thoracic kyphoscoliosis with a short segmented and sharp curve with distorted ribs and vertebrae

•AP: Acute short segment curve, atypical level, penciling of ribs (>=3 poor prognosis because of rapid progression), TP spindling, hypoplastic pedicles

•Lat: posterior scalloping and wedging of VB, foramina ectasia

•Transverse: widened canal (increase interpedicular distance)

•**MRI: dumbbell lesion (neurofibroma on nerve root), dural ectasia (circumferential dilatation of dural sacs → destabilize spine), meningocele

•Brace no use, OT early (cobb >20) , Decompression, ASF & PSF with instrumentation

•2. Hemihypertrophy

•3. Atlantoaxial instability

Q3 How is Neurofibromatosis managed?

•AP: Acute short segment curve, atypical level, penciling of ribs (>=3 poor prognosis because of rapid progression), TP spindling, hypoplastic pedicles

•Lat: posterior scalloping and wedging of VB, foramina ectasia

•Transverse: widened canal (increase interpedicular distance)

•**MRI: dumbbell lesion (neurofibroma on nerve root), dural ectasia (circumferential dilatation of dural sacs → destabilize spine), meningocele

•Brace no use, OT early (cobb >20) , Decompression, ASF & PSF with instrumentation

•2. Hemihypertrophy

•3. Atlantoaxial instability

•Inheritance

•AD (50%)/ sporadic (50%)

•100% penetrance

•NF1 gene on chromosome 17q21

•Abnormal coding of neurofibromin protein, Affecting RAS which affect osteoclast

•Difficulty with scoliosis surgery: (3 bone, 3 soft tissue + nonunion)

•Poor bone stock

•Significant deformity with kyphosis

Raw speaker-note hierarchy audit

#	lvl	marL	indent	logical	original note line
1	0	None	None	0	Neurofibromatosis
2	0	None	None	0	Three types
3	0	None	None	0	- 1 (NIH consensus)
4	0	None	None	0	- 2 + bilateral vestibular schwannomas
5	0	None	None	0	- Segmental NF (single body segment)
6	0	None	None	0	NIH consensus 1987
7	0	None	None	0	2/7
8	0	228600	-228600	1	Family history of 1st degree relative
9	0	228600	-228600	1	Skin lesion 1 (Café au lait spot > 6 15mm in adult, 5mm in children)
10	0	228600	-228600	1	Skin lesion 2 (Axillary and groin freckles)
11	0	228600	-228600	1	Nerve lesion (Neurofibroma x 2 / plexiform neurofibroma)
12	0	228600	-228600	1	Bone lesion (Distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis) Tibial pseudoarthrosis
13	0	228600	-228600	1	Eye lesion 1 (Lisch nodule x 2 = iris harmatoma)
14	0	228600	-228600	1	Eye lesion 2 (Optic glioma)
15	0	0	0	0	(Updated in 2021: + gene analysis of NF1 + more specific bone and eye diagnosis)
16	0	0	0	0	Plexiform neurofibroma is pathognomonic for NF 1, in 4%, → neurofibrosarcoma
17	0	0	0	0	Other orthopedic manifestation
18	0	228600	-228600	1	Scoliosis (dystrophic / idiopathic-like form)
19	1	628650	-171450	2	Thoracic kyphoscoliosis with a short segmented and sharp curve with distorted ribs and vertebrae
20	1	628650	-171450	2	AP: Acute short segment curve, atypical level, penciling of ribs (>=3 poor prognosis because of rapid progression), TP spindling, hypoplastic pedicles
21	1	628650	-171450	2	Lat: posterior scalloping and wedging of VB, foramina ectasia
22	1	628650	-171450	2	Transverse: widened canal (increase interpedicular distance)
23	0	0	0	0	**MRI: dumbbell lesion (neurofibroma on nerve root), dural ectasia (circumferential dilatation of dural sacs → destabilize spine), meningocele
24	0	0	0	0	Brace no use, OT early (cobb >20) , Decompression, ASF & PSF with instrumentation
25	0	0	0	0	2. Hemihypertrophy
26	0	0	0	0	3. Atlantoaxial instability
27	0	0	0	0	===================================================================================
28	0	0	0	0	Inheritance
29	0	0	0	0	AD (50%)/ sporadic (50%)
30	0	0	0	0	100% penetrance
31	0	0	0	0	NF1 gene on chromosome 17q21
32	0	0	0	0	Abnormal coding of neurofibromin protein, Affecting RAS which affect osteoclast
33	0	0	0	0	Difficulty with scoliosis surgery: (3 bone, 3 soft tissue + nonunion)
34	0	228600	-228600	1	Poor bone stock
35	0	228600	-228600	1	Significant deformity with kyphosis
36	0	228600	-228600	1	Small pedicles, high risk of nerve injury
37	0	228600	-228600	1	Higher rate of incidental durotomy (intraspinal abnormality)
38	0	228600	-228600	1	Bleeding due to extradural venous plexus
39	0	228600	-228600	1	Risk of rib dislocation during reduction causing nerve injury
40	0	228600	-228600	1	Poor healing, may need A+P (pseudoarthrosis PSF alone up to 40%, A+P 10%)
41	0	0	0	0	Prognosis
42	0	0	0	0	Normal life expectancy
43	0	0	0	0	High chance of malignancy and hypertension
44	0	0	0	0	Malignant transformation
45	0	171450	-171450	1	Elephantiasis (large mass with vollous skin)
46	0	171450	-171450	1	Plexiform NF “bag of worms”, filariasis
47	0	0	0	0	Clinical:
48	0	0	0	0	Age: 36-50yo
49	0	0	0	0	Sudden pain and increase in size, biopsy to rule out neurofibrosarcoma

lvl

marL

indent

logical

original note line

None

Neurofibromatosis

None

Three types

None

- 1 (NIH consensus)

None

- 2 + bilateral vestibular schwannomas

None

- Segmental NF (single body segment)

None

NIH consensus 1987

None

2/7

228600

-228600

Family history of 1st degree relative

228600

-228600

Skin lesion 1 (Café au lait spot > 6 15mm in adult, 5mm in children)

228600

-228600

Skin lesion 2 (Axillary and groin freckles)

228600

-228600

Nerve lesion (Neurofibroma x 2 / plexiform neurofibroma)

228600

-228600

Bone lesion (Distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis) Tibial pseudoarthrosis

228600

-228600

Eye lesion 1 (Lisch nodule x 2 = iris harmatoma)

228600

-228600

Eye lesion 2 (Optic glioma)

(Updated in 2021: + gene analysis of NF1 + more specific bone and eye diagnosis)

Plexiform neurofibroma is pathognomonic for NF 1, in 4%, → neurofibrosarcoma

Other orthopedic manifestation

228600

-228600

Scoliosis (dystrophic / idiopathic-like form)

628650

-171450

Thoracic kyphoscoliosis with a short segmented and sharp curve with distorted ribs and vertebrae

628650

-171450

AP: Acute short segment curve, atypical level, penciling of ribs (>=3 poor prognosis because of rapid progression), TP spindling, hypoplastic pedicles

628650

-171450

Lat: posterior scalloping and wedging of VB, foramina ectasia

628650

-171450

Transverse: widened canal (increase interpedicular distance)

**MRI: dumbbell lesion (neurofibroma on nerve root), dural ectasia (circumferential dilatation of dural sacs → destabilize spine), meningocele

Brace no use, OT early (cobb >20) , Decompression, ASF & PSF with instrumentation

2. Hemihypertrophy

3. Atlantoaxial instability

===================================================================================

Inheritance

AD (50%)/ sporadic (50%)

100% penetrance

NF1 gene on chromosome 17q21

Abnormal coding of neurofibromin protein, Affecting RAS which affect osteoclast

Difficulty with scoliosis surgery: (3 bone, 3 soft tissue + nonunion)

228600

-228600

Poor bone stock

228600

-228600

Significant deformity with kyphosis

228600

-228600

Small pedicles, high risk of nerve injury

228600

-228600

Higher rate of incidental durotomy (intraspinal abnormality)

228600

-228600

Bleeding due to extradural venous plexus

228600

-228600

Risk of rib dislocation during reduction causing nerve injury

228600

-228600

Poor healing, may need A+P (pseudoarthrosis PSF alone up to 40%, A+P 10%)

Prognosis

Normal life expectancy

High chance of malignancy and hypertension

Malignant transformation

171450

-171450

Elephantiasis (large mass with vollous skin)

171450

-171450

Plexiform NF “bag of worms”, filariasis

Clinical:

Age: 36-50yo

Sudden pain and increase in size, biopsy to rule out neurofibrosarcoma

Improved semantic hierarchy used for the study notes

#	semantic level	section?	rewritten line
1	0		Neurofibromatosis
2	1		Three types
3	1		- 1 (NIH consensus)
4	1		- 2 + bilateral vestibular schwannomas
5	1		- Segmental NF (single body segment)
6	1		NIH consensus 1987
7	1		2/7
8	0	yes	Family history of 1st degree relative
9	1		Skin lesion 1 (Café au lait spot > 6 15mm in adult, 5mm in children)
10	1		Skin lesion 2 (Axillary and groin freckles)
11	1		Nerve lesion (Neurofibroma x 2 / plexiform neurofibroma)
12	1		Bone lesion (Distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis) Tibial pseudoarthrosis
13	1		Eye lesion 1 (Lisch nodule x 2 = iris harmatoma)
14	1		Eye lesion 2 (Optic glioma)
15	1		(Updated in 2021: + gene analysis of NF1 + more specific bone and eye diagnosis)
16	1		Plexiform neurofibroma is pathognomonic for NF 1, in 4%, → neurofibrosarcoma
17	1		Other orthopedic manifestation
18	1		Scoliosis (dystrophic / idiopathic-like form)
19	2		Thoracic kyphoscoliosis with a short segmented and sharp curve with distorted ribs and vertebrae
20	2		AP: Acute short segment curve, atypical level, penciling of ribs (>=3 poor prognosis because of rapid progression), TP spindling, hypoplastic pedicles
21	2		Lat: posterior scalloping and wedging of VB, foramina ectasia
22	2		Transverse: widened canal (increase interpedicular distance)
23	1		**MRI: dumbbell lesion (neurofibroma on nerve root), dural ectasia (circumferential dilatation of dural sacs → destabilize spine), meningocele
24	1		Brace no use, OT early (cobb >20) , Decompression, ASF & PSF with instrumentation
25	1		2. Hemihypertrophy
26	1		3. Atlantoaxial instability
27	0		——
28	1		Inheritance
29	1		AD (50%)/ sporadic (50%)
30	1		100% penetrance
31	1		NF1 gene on chromosome 17q21
32	1		Abnormal coding of neurofibromin protein, Affecting RAS which affect osteoclast
33	1		Difficulty with scoliosis surgery: (3 bone, 3 soft tissue + nonunion)
34	1		Poor bone stock
35	1		Significant deformity with kyphosis
36	1		Small pedicles, high risk of nerve injury
37	1		Higher rate of incidental durotomy (intraspinal abnormality)
38	1		Bleeding due to extradural venous plexus
39	1		Risk of rib dislocation during reduction causing nerve injury
40	1		Poor healing, may need A+P (pseudoarthrosis PSF alone up to 40%, A+P 10%)
41	1		Prognosis
42	1		Normal life expectancy
43	1		High chance of malignancy and hypertension
44	1		Malignant transformation
45	1		Elephantiasis (large mass with vollous skin)
46	1		Plexiform NF “bag of worms”, filariasis
47	0	yes	Clinical:
48	1		Age: 36-50yo
49	1		Sudden pain and increase in size, biopsy to rule out neurofibrosarcoma

semantic level

section?

rewritten line

Neurofibromatosis

Three types

- 1 (NIH consensus)

- 2 + bilateral vestibular schwannomas

- Segmental NF (single body segment)

NIH consensus 1987

2/7

yes

Family history of 1st degree relative

Skin lesion 1 (Café au lait spot > 6 15mm in adult, 5mm in children)

Skin lesion 2 (Axillary and groin freckles)

Nerve lesion (Neurofibroma x 2 / plexiform neurofibroma)

Bone lesion (Distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis) Tibial pseudoarthrosis

Eye lesion 1 (Lisch nodule x 2 = iris harmatoma)

Eye lesion 2 (Optic glioma)

(Updated in 2021: + gene analysis of NF1 + more specific bone and eye diagnosis)

Plexiform neurofibroma is pathognomonic for NF 1, in 4%, → neurofibrosarcoma

Other orthopedic manifestation

Scoliosis (dystrophic / idiopathic-like form)

Thoracic kyphoscoliosis with a short segmented and sharp curve with distorted ribs and vertebrae

AP: Acute short segment curve, atypical level, penciling of ribs (>=3 poor prognosis because of rapid progression), TP spindling, hypoplastic pedicles

Lat: posterior scalloping and wedging of VB, foramina ectasia

Transverse: widened canal (increase interpedicular distance)

**MRI: dumbbell lesion (neurofibroma on nerve root), dural ectasia (circumferential dilatation of dural sacs → destabilize spine), meningocele

Brace no use, OT early (cobb >20) , Decompression, ASF & PSF with instrumentation

2. Hemihypertrophy

3. Atlantoaxial instability

——

Inheritance

AD (50%)/ sporadic (50%)

100% penetrance

NF1 gene on chromosome 17q21

Abnormal coding of neurofibromin protein, Affecting RAS which affect osteoclast

Difficulty with scoliosis surgery: (3 bone, 3 soft tissue + nonunion)

Poor bone stock

Significant deformity with kyphosis

Small pedicles, high risk of nerve injury

Higher rate of incidental durotomy (intraspinal abnormality)

Bleeding due to extradural venous plexus

Risk of rib dislocation during reduction causing nerve injury

Poor healing, may need A+P (pseudoarthrosis PSF alone up to 40%, A+P 10%)

Prognosis

Normal life expectancy

High chance of malignancy and hypertension

Malignant transformation

Elephantiasis (large mass with vollous skin)

Plexiform NF “bag of worms”, filariasis

yes

Clinical:

Age: 36-50yo

Sudden pain and increase in size, biopsy to rule out neurofibrosarcoma

063. Neurofibromatosis

Clean FRCS notes with inline figures

Neurofibromatosis

Family history of 1st degree relative

Clinical:

Direct Q&A

Neurofibromatosis

Family history of 1st degree relative

Raw speaker-note hierarchy audit

Improved semantic hierarchy used for the study notes