Neurofibromatosis-1 (NF-1) Flashcards Preview

Genetic Syndromes > Neurofibromatosis-1 (NF-1) > Flashcards

Flashcards in Neurofibromatosis-1 (NF-1) Deck (8)
Loading flashcards...
1
Q

What is the inheritance pattern of NF-1?

A

90% AD
5% whole gene deletion
50% sporadic

2
Q

What is the genetic mutation for NF-1?

A

NF-1 gene at chromosome 17q11.2

3
Q

What are the diagnostic criteria for NF-1?

A

Two or more of the following:
1. Two or more neurofibromas or one plexiform neurofibroma
a) 6 or more CALM >5mm in prepubertal
b) 6 or more CALM >15mm postpubertal
2. Axillary or inguinal freckling (Crowe’s sign)
3. Optic nerve tumor
4. Two or more Lisch nodules (iris hamartoma)
5. Distinctive osseous lesion: sphenoid dysplasia or long-bone bowing with or
without psuedoarthrosis
5. First degree relative with NF-1

4
Q

What are the associated medical findings for NF-1?

A
  1. Neurofibromas
  2. Optic nerve tumors
  3. Increased solid tumors and leukemia, CNS gliomas
  4. Sphenoid wing dysplasia
  5. Pseudoarthrosis
  6. Scoliosis
  7. HTN, increased cardiac defects (pulmonic stenosis, aortic coarctation, CAD)
5
Q

What are the developmental outcomes for NF-1?

A
  1. Learning disabilities (40-60%)
  2. Impaired executive function
    o inattention, impulsivity
  3. Delayed speech and communication
  4. Learning problems tend to improve with age
6
Q

What is the DDx for NF-1?

A
  1. Legius Syndrome (SPRED1 gene): CAL + axillary/inguinal freckling; no neurofibromas or ophthalmologic manifestations of NF1.
  2. McCune-Albright
    Syndrome (polyostotic fibrous dysplasia).
  3. Neurofibromatosis Type 2. Multiple autosomal dominant CAL macules without neurofibromas.
7
Q

What are the recommendations for NF-1?

A
  1. Developmental assessment/school support
  2. MRI any suspected plexiform neurofibromas
  3. Low threshold for Brain MRI
  4. Manage scoliosis
  5. Routine BP checks
  6. Annual Peds Ophtho exams
8
Q

What are the major clinical characteristics of NF-1?

A
  1. Multiple cafe au lait spots
  2. Axillary and/or inguinal freckling
  3. Neurofibromas
  4. Iris Lisch nodules
  5. Scoliosis
  6. Plexiform neurofibromas
  7. CNS gliomas
  8. Malignant peripheral nerve sheath tumors