[vc_row row_type=”row” use_row_as_full_screen_section=”no” type=”full_width” oblique_section=”no” text_align=”left” css_animation=””][vc_column][ultimate_heading main_heading=”Candidate brief” main_heading_color=”#000000″ sub_heading_color=”#000000″ main_heading_style=”font-weight:bold;” main_heading_font_size=”desktop:36px;”]

“This patient has a headache.  Please examine him and discuss your findings with the examiners.”

[/ultimate_heading][vc_empty_space image_repeat=”no-repeat”][vc_video link=”https://vimeo.com/149509063″][vc_empty_space image_repeat=”no-repeat”][vc_row_inner row_type=”row” type=”full_width” use_row_as_full_screen_section_slide=”no” text_align=”left” css_animation=””][vc_column_inner width=”1/4″][stat_counter icon_size=”32″ counter_title=”Station time” counter_value=”20″ counter_suffix=” minutes” speed=”3″][/vc_column_inner][vc_column_inner width=”1/4″][stat_counter icon_size=”32″ counter_title=”Time for this encounter” counter_value=”10″ counter_suffix=” minutes” speed=”3″][/vc_column_inner][vc_column_inner width=”1/4″][stat_counter icon_size=”32″ counter_title=”Maximum time to examine your patient” counter_value=”8″ counter_suffix=” minutes” speed=”3″][/vc_column_inner][vc_column_inner width=”1/4″][stat_counter icon_size=”32″ counter_title=”Minimum time for discussion and questions” counter_value=”2″ counter_suffix=” minutes” speed=”3″][/vc_column_inner][/vc_row_inner][vc_empty_space image_repeat=”no-repeat”][/vc_column][/vc_row][vc_row row_type=”row” use_row_as_full_screen_section=”no” type=”full_width” oblique_section=”no” text_align=”left” css_animation=””][vc_column][vc_accordion style=”accordion”][vc_accordion_tab title=”Common examiner questions”][vc_column_text]Common examiner questions include the following:

  1. What do you think this patient has?
  2. How would you like to investigate this patient next?
  3. What do you think the underlying cause of this patient’s signs is?

[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Diagnosis and clinical signs”][vc_column_text]This patient has neurofibromatosis.

The clinical signs exhibited in this video include:

  • Subtle axillary freckling;
  • Cafe-au-lait spots;
  • Extensive visible neurofibromas over the torso and limbs.

[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Discussion”][vc_column_text]Neurofibromatosis (NF) is a genetic disorder that refers to a number of genetically inherited conditions that differ genetically and clinically carrying a significant risk of tumor formation on nerve tissues. It is divided into:

  • NF type 1
  • NF type 2
  • Schwannomatosis

Being inherited in an autosomal dominant pattern, only one defected gene is required for a child to have chances of developing the condition. If parents are not affected then NF is most likely a result of mutation at the time of conception. The specific genes involved are:

  • NF1- a gene on chromosome 17, normally responsible for production of protein neurofibromin, which helps in cell growth regulation. Mutation results in an uncontrollable growth
  • NF2- a gene on chromosome 22, normally produces merlin. As a result of mutation, there is loss of merlin and cell growth becomes out of control.
  • Schwannomatosis is a result of two gene mutations.

The single biggest risk factor for the first two types is family history, while inheritance of Schwannomatosis is not so clear. Clinical features vary from type to type but are mild to moderate. These features include:

  • NF1 is characterized by cutaneous findings and changes in bone. Signs and symptoms include;
  • Café au lait spots (>6 is strong indication)
  • Freckled arm pits and groin
  • Lisch nodules
  • Neurofibromas (mostly in or under the skin)
  • Optic glioma
  • Bone deformities
  • Scoliosis
  • Bowed lower leg
  • Learning disabilities
  • Head size is larger than average
  • Short stature
  • NF2 clinical features mostly result from slow growing tumors (acoustic neuromas) in both the ears. At times NF2 may involve other peripheral, cranial nerves, visual and spinal nerves. Features of NF2 are;
  • Ringing in ears
  • Gradual loss of hearing
  • Poor balance
  • Headaches
  • Facial drop
  • Balance difficulties
  • Numbness and weakness in arms and legs
  • Pain
  • Vision problems
  • Cataract
  • Schwannomatosis is the rarest type but can cause intense and chronic pain in any part of body. Clinical features include;
  • Numbness and weakness various parts of body
  • Loss of muscle

Neurofibromatoses may be diagnosed by your doctor after conducting a physical examination and inquiring about your family history. Investigations that are carried out to confirm the diagnosis include;

  • Radiography
  • MRI or CT scan
  • EEG
  • Genetic testing
  • Slit-lamp examination
  • Ear examination

There is no specific treatment of NF, however the disease is managed by providing symptomatic relief and annual check-ups to assess and focus on potential complications. Management of NF includes:

  • Routine check-ups for:
    • Cutaneous examination
    • Skeletal examination
    • Nervous system examination
  • Removal of NF (cosmetic and medical reasons)
    • Laser for non-surgical removal
    • Surgical resection (after considering risks involved)
  • Chemotherapy for optic nerve gliomas
  • Anti-histamines for itching
  • Anti neoplastic agents for cell growth and proliferation
  • Regular follow-up visits

[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Specimen case presentation”][vc_column_text]”This patient has neurofibromatosis.  I observed several cafe-au-lait patches, axillary freckling and multiple subcutaneous neurofibromas over the torso and limbs.”[/vc_column_text][/vc_accordion_tab][/vc_accordion][/vc_column][/vc_row]