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NEUROFIBROMATOSIS NF

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					                     NEUROFIBROMATOSIS (NF)
It is the benign growth of tumors on nerve roots or trunks. There are two types of
Neurofibromatosis (NF).

   1) NEUROFIBROMATOSIS TYPE I (VON RECKLINGHAUSEN DISEASE)

      Autosomal dominant trait however, there have been cases of NF type I in persons
       with negative family history, thus most likely due to mutation.
      Occurs in approximately 1 in 2000 – 4000 people
      Gene resides in chromosome 17

    FEATURES:

      Café au lait spots……..hyperpigmented macules usually larger than 15mm in
       diameters, have sharply defined edges and a uniform intensity of coloration.
       Hallmark of NF type I. Often develop during first year of life and increase in
       number during the first few years of life, then eventually the pattern stabilizes.
       These spots are likely to occur in regions of skin apposition/ particularly the
       axilla.

      Neurofibromas.............basically four types.
       i) Cutaneous; most common and eventually occurs in virtually all patients with
       NF type I. Often appears just before or during puberty. Present in highest density
       over the trunk.

        ii) Subcutaneous; becomes apparent usually towards the end of the first decade of
   .   first decade of life or in early adulthood. They maybe painful and tender.

       iii) Nodular Plexiform Neurofibromas; complex clusters of subcutaneous like
       neurofibromas along proximal nerve roots and major nerves. With continued
       spinal column, leads to spinal erosion and eventually spinal column compression

        iv). Diffuse Plexiform Neurofibromas; with or without hyperpigmentation are
       congenital lesions that tend to enlarge steadily with age. It usually results in
       significant morbidity.

      Lisch Nodules………relatively specific for NF type I. The lesions of the iris are
       found in less than 10% of patients with NF type I who are younger than 6 years
       however, frequency range in patients older than 10 years is 90% to 100%. If the
       lesions are large in size and number, than it is able to be seen with an
       ophthalmoscope but ruling it out requires specialist consultation.

      Optic Pathway Gliomas..............blindness and additional risk of CNS neoplasm's.
   Learning Disabilities

   Pseudoarthrosis………..or bowing of tibia. Any child with bowing of tibia
    should be presumed to have NF type I till proven otherwise. Usually apparent
    when walking is attempted.

   Scoliosis……..usually involves the cervical and upper thoracic spine

   Renovascular hypertension………requires regular BP monitoring.


 DIAGNOSIS:

   Six or more Café au lait spots are found larger than 5mm in greatest diameter in
    prepubertal individuals and larger than 15mm in greatest diameter in postpubertal
    individuals.

   Two or more Neurofibromas of any type or one Plexiform Neurofibroma.

   Freckling in axillary or inguinal area.

   Optic pathway Gliomas

   Two or more Iris Lisch lesions

   Distinctive Osseous lesion with or without Pseudoarthrosis

   First degree relative with NF type I, diagnosed by same criteria.

 TREATMENT:

    Problems associated with NF type I that will require medical attention;
     i) Seizures
    ii) Headaches
    iii) Renovascular hypertension
    iv) Hyperactivity
    v) Learning disabilities
    vi) Anxiety

   Surgery is the mainstay of treatment, especially for removing and debulking
    tumors, for treating skeletal dysplasias and for correcting scoliosis. However,
    tumors tend to recur thus surgical removal of a neurofibroma should be
    undertaken only if a specific major good can be established before hand.
2) NEUROFIBROMATOSIS TYPE II (BILATERAL ACOUSTIC NF).

   Autosomal dominant trait
   Occurs in 1 in 40,000 to 50,000 persons
   Gene is located on chromosome 22

 FEATURES:

   Definitive feature is the presence of bilateral acoustic neuromas which are
    actually vestibular schwannomas

   Intracranial and spinal cord meningiomas also occur frequently plus spinal cord
    astrocytoma

   Paraspinal schwannomas and neurofibromas are common, especially in cervical
    and lumber regions

   Cutaneous Schwannomas are common in early childhood. It maybe
    hyperpigmented or same color as the skin with or without associated
    hypertrichosis. Size ranges from 3 to 8mm

   Retinal hamartomas are present in NF type II child

   Café au lait spots are relatively few in number and pale in color.

 DIAGNOSIS

   Usually difficult to establish in children Asymptomatic in the first 15 years of life
    although cutaneous schwannomas and retinal hamartomas can be detected during
    this period.

   Bilateral eighth cranial nerve masses seen with neuroimaging studies.

   First degree relative with NF type II and either unilateral 8th CN masses or two of
    the following…….neurofibroma, meningioma, spinal astrocytoma, schwannoma
    and posterior subscapular cataracts.

   Frequent symptoms include:
    i) headache
    ii) hearing loss
    iii) tinnitus, which is most often unilateral early stages of the disease.
   TREATMENT:

     Surgery is also the mainstay for treatment in NF type II. Used for removal and
      debulking of tumors. Surgical removal of acoustic neuroma may result in further
      hearing loss and ipsilateral facial nerve palsy

     Stereotactic radiation

     Women with NF type II are advised that pregnancy makes the condition worse by
      aggravating the growth and symptoms of intracranial tumors.

     People diagnosed with NF type II are cautioned against swimming. Sever
      disorientation may occur when patients are diving or swimming under water. this
      is most probably due to bilateral 8th CN compression.




Below are some pictures obtained from the web on Neurofibromatosis:




  Cutaneous & subcutaneous nodules.            Plexiform Neurofibroma
   Pseudoarthrosis..bowing of tibia               Nodules along C2 and C3


Scoliosis in child with NF type I               Nodules in buccal cavity




                           Café au lait spots

				
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