AAP Health Supervision for Children with Neurofibromatosis Type 1 Flashcards
1
Q
What are the diagnostic criteria for NF1?
A
2 of the following 7 features:
- > 6 cafe au lait spots >5mm prepubertal and >15mm postpubertal
- > 2 neurofibromas any type or >1 plexiform
- freckling in the axillary or inguinal regions
- optic glioma (optic pathway glioma)
- > 2 Lisch nodules (iris hamartomas)
- distinctive osseus lesions, such as sphenoid wing dysplasia or cortical thinning of the cortex of long bones with or without pseudoarthrosis
- 1st degree relative (parent, sibling, or child) with NF-1
2
Q
What complications are associated with NF-1?
A
Malignant peripheral nerve sheath tumors 5-10% Pheochromocytomas, rhabdomyosarcoma, leukemia, brain rumors Optic glioma Short stature GI bleeding Scoliosis 10-15% Hypertension 4% MR or specific learning disabilities
3
Q
How is NF-1 inherited?
A
Autosomal dominant
4
Q
Where is the NF1 gene located?
A
17q11.2
5
Q
What are the health supervision guidelines for NF-1?
A
- evaluate for neurofibromas new and progression
- BP q1y
- neurodevelopmental evaluation
- ophthalmology q1y
- scoliosis and other Ortho changes
6
Q
What are the health supervision guidelines for NF-1 at diagnosis?
A
- review the results of prenatal diagnostic study
- explain the mechanism for occurrence and risk of recurrence
- review treatment
- referral to genetics
7
Q
What are the health supervision guidelines for infants (birth to 1mo) with NF-1?
A
- examine for cutaneous findings
- all 1st degree relatives should have exam and ophthalmology exam for Lisch modules
- Neuroimaging only if indicated
8
Q
What are the health supervision guidelines for infancy (1m to 1y) for NF1?
A
- Growth parameters
- Examine got cafe au lait spots
- check for proptosis, rapidly increasing HC, and focal neurological signs
- look for skeletal abnormalities esp spine and legs
- ophthalmology
- neurodevelopmental
9
Q
What are the health supervision guidelines for early childhood (1-5y) for NF1?
A
- examine for skin findings and photograph to document
- ophthalmology q1y
- Brain MRI if visual changes, persistent headaches, seizures, marked increase in HC, or plexiform neurofibromas of the head
- assess speech and motor skills for deficits
- BP q1y
10
Q
What are the health supervision guidelines in late childhood (5-13yo) for NF1?
A
- examine for skin tumors causing disfigurement
- evaluate for puberty (if early evaluate for optic glioma or hypothalamic lesions)
- assess for LD or ADHD
- review child’s social adjustment
- ophthalmology q1y till 8yo, then q2y
- BP q1y
11
Q
What are the health supervision guidelines in adolescence yo early adulthood (13-21yo) for NF1?
A
- examine for abnormal puberty
- skin exam for plexiform neurofibromas and neuro exam
- surgery consult as needed
- BP q1y
- ophthalmology q2y until 18yo
