MY ROUNDS- 2MONTH OLD WITH CAFE AU- LAIT (7mm )SWELLING FACE(LT)

• 2 month old chil with > 7 cafe au lait spots of >5mm with family history NF1 is admitted with swelling left cheek
• o/e  cafe au lait >5mm,facial swelling -plexiform neurofibroma,eye ,axilla normal.leg -no bowing
• How do you supervise health in neurofibromatosis type 1?
• diagnosis:Neurojibroinutosis I is Present in an Individual Who has Two orMore of the Following Signs:Six or more cafe-au-lait macules > 5 mm in greatest diameter in

  prepubertal individuals or > 15 mm in greatest diameter after

  puberty

  Two or more neurofibromas of any type, or one or more plexiform neurofibroma

  Freckling in the axillae or inguinal regions (Crowe’s sign)

  A tumor of the optic nerve pathway

  Two or more Lisch nodules (iris hamartomas)

  A distinctive osseous lesion, such as sphenoid wing dysplasia or long-bone bowing (with or without pseudarthrosis)

   

  A first-degree relative with neurofibromatosis 1 by the above criteria

• clinical features
• Cutaneous
  Multiple caf6-au-lait spots
  Intertriginous freckling
  Dermal neurofibromas
  Xanthogranulomas (2-5 %)
  Hemangiomas (5-10%)
  Ophthalmologic
  Optic nerve pathway tumor
  Lisch nodules
  Glaucoma (rare)
  Musculoskeletal
  Sphenoid wing dysplasia (5-10%)
  Long-bone bowing (2-5%)
  Scoliosis (20-30%)
  Short stature (25-35%)
  Relative inacrocephaly
  Cardiovascular
  Hypertension (2-5%)
  Congenital heart defect (2%)
  Neurological
  Hydrocephalus (5%)
  Seizures (6-7%)
  Educational difficulty (40-60%)
  Sensorineural hearing loss (5%)
  Precocious puberty (2-5%)
  Tumors
  Plexiform neurofibromas (25%)
  Malignant peripheral nerve sheath tumors (5-10%)
  CNS glioma (2%)
  Pheochromocytoma, rhabdomyoma, neuroblastoma (all rare)
  Myelogenous leukemia (rare)

ANTICIPATORY GUIDENCE FOR NEUROFIBROMATOSIS 1

• Newborn to 2 years
• CafL-au-lait spots for diagnosis
  Long-bone bowing
  Plexiform neurofibromas
  Optic pathway tumor
  Development delay assessment
  2-1 0 years
• Optic pathway tumors
  Plexiform neurofibromas
  Scoliosis
  Hypertension
  Freckling patterns
  Learning problems
  10 years to Adulthood
• Onset of dermal neurofibromas
  Learning problems
  Self-esteem
  Scoliosis
  Plexiform neurofibromas
  Reproductive decisions
  Hypertension
  Adult
  Offspring
  Progression of dermal neurofibromas
  Malignant peripheral nerve sheath tumors
  Hypertension
  Plexiform neurofibromas
• Genetic diagnosis and counseling
• NF1 is a clinical diagnosis. Genetic testing is difficult because of the and counseling large size of the gene, the vast number of mutations that have been identified, and the high proportion of “novel” mutations. Mutation
  testing is only available on a research basis at the present time.
• Counseling is on an autosomal dominant basis. About 50% of cases represent new mutations. NF1 shows a lot of variability in expression in affected members of the same family. Parents of such cases should be carefully examined clinically to look for the cutaneous features of NF1 and by slit-lamp examination to look for Lisch nodules.
• If neither parent fulfils the diagnostic criteria for NF1 there is a 1%–2% recurrence risk for this condition in their next pregnancy because of the possibility of gonadal mosaicism.
• In large families with affected individuals in two or more generations, prenatal diagnosis can usually be offered by linkage analysis using intragenic and flanking markers. However, many families elect not
  to have a prenatal test as this does not provide any information about the severity or complications of NF1 in an affected child