Case Report

Adam Vrbanic
Exchange Student - Croatia

Patients Identity
Name

: Tn.S

Age

: 23 years old

Sex

: Man

Nationality

: Indonesian

Status

: Single

Job

:-

Data Collection
Autoanamnesis and heteroanamnesis from patients mother , on August 24th 2015, OPD
Siloam Hospital LV.
Reason of visit:
Check up after laminectomy+tumor removal done 1 week ago
a. Chief complaint history
15 years ago, the patient started to feel he is gradually having some problems with the
left eye - he fell that his vision was getting blurry on the left eye and the mother noticed that
affected eye also started to be red. But other than those complaints he did not have (neither
pain nor itch in the eyes he admitted). He went to several doctors but they just keep giving
him eye drops or regular medications without any tests. But then the blurry vision has started
to worsen. 5 years ago patient has visited another doctor which suggested him to do MRI
because from the basic examination he saw that his optical nerve is edematousus.
According to the mother, on the MRI pictures were seen 2 large masses inside his
cranium, one located near the top of his head, while the other appeared at the back part. At
first, the patient and his family did not go to the doctors and tried some alternative treatments,
until 1 year ago another symptoms like balance problem while walking have appeared.
Patient complained he is always feeling his left leg stronger than right one, and this has made
him to notice that the right leg is slowly getting smaller in comparison to the left. Other than
that, he also had some left ear hearing problems which have been gradually worsened.
Because the symptoms started getting worse, the family decided to take him to Siloam
hospital for medical examination and treatment. By this time, some other masses
(neurofibromas) have appeared on surface in all around patients body parts, like hands, back
and the biggest with the size of a meatball in the outer back part of his head. They did not
1

Case Report
Adam Vrbanic
Exchange Student - Croatia
know when actually those masses started to appear and how fast did they grow, because he
was not feeling any pain, itch, or numbness caused by these masses they were and still are
asymptomatic.
After the meeting and discussing about problems with a neurosurgeon, they did a new
MRI of all his CNS (brain+spinal cord) and few of tumors were detected in brain as well as
in spinal cord. Decision was made to start with tumor removals because of the symptoms
caused by their growth (compression of optic nerve, hearing impairment). The first operation
was done in March 2015 in which was firstly removed the biggest on the top of his head
(frontoparietal region), assumed as a meningioma. The same diagnosis was later on
confirmed by patohistological examination (PHE) of the tumorous mass. The mother said the
patient had 2 seizures a day before and after the first operation that each lasted for around
10 minutes and involved all his body (grand mal type of seizure). None seizures appeared
again. Second surgery was done 3 months after in which the second tumorous mass on the
left side of the brain basis (assumed as acoustic neurinoma) was removed. Later on, by PHE
an acoustic neurinoma (schwannoma) was confirmed. Finally, they did the third operation
one week ago laminectomy as well as removal of 3 tumorous masses in thoracic 1-3 region.
Masses were then proved by PHE as 2 meningiomas and 1 neurinoma (schwannoma). 2
weeks ago, or 1 week before the third operation, the patient started to feel some problems
while urinating described as a halting. Problem with the balance is still there even after all
those operations, but it got much better compared with situation before they were done. The
mother added that her son has a problem with erection.
Now, Mr.S only complained about the urinating and erection problems. He doesnt feel
any pain left at the operation side or any other new symptoms. Still some balance impairment
left.
b. Past Medical History
The patient was born with bilateral cheilognathopalatoschisis and has done a
reconstructive surgery 3 times while he was a baby. Mother said that he never had some
significant diseases/infections (with an exception of earlier mentioned symptoms) during his
childhood. She also negated any seizures while he was a baby. Although, she admited he has
always had some problems with memorizing things since he was in school.
c. Family History
According to the mother, there is nobody in the family who has experienced any of
these symptoms or conditions. Mr.S has 3 older siblings, and none of them had the
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Case Report
Adam Vrbanic
Exchange Student - Croatia
symptoms that he is having. The mother said she was 32 years old when she was carrying
him and never took any pills or medications during pregnancy period. Also said that
delivery of her son went without any complications.
d. Others
Patient denies any other significant diseases,symptoms or allergies.

Physical Examinations
General Condition
Conciousness
GCS
Vital signs

: Good
: Fully alert
: E4 V5 M6 (GCS 15)
Temperature
Blood Pressure
Heart Rate
Respiratory rate

General Status
Head

= not done
= 110 / 70 mmHg
= 76 / min
= 22 / min

Normocephal
Mass at left occipital, +- 3cm x 3cm, firm, pain (-), imobile (-), pediculated
(-), pinkish, bleeding (-), pus (-) (see Picture 2)

Face

Scars of reconstuctive plastc surgery in the mouth region (see Picture 1)

Eyes

Conjunctiva anemic -/Icteric Sclera -/Pupil round and isochoric, diameter 3 mm / 3 mm

Left eye cataract (see Picture 1)

Ears

Normal shape, secret -/- , scars (-)

Nose

Deviation of nasal septum (-), secret -/-

Mouth

Ulcus (-), teeth not sanated, pharynx hyperemis (-), T1/T1

Neck

Lymphnode enlargement (-), mass (-), fresh operation scar at the behind of
the neck

Thorax

Symetrical, retraction (-)

Cardiac

o
o
o
o
o
o
o
o

Inspection: normal range

Palpation: not done
Percussion: not done
Auskultation: normal heart sound, S1S2 regular, murmur(-), gallop ()
Inspection: symmetrical, deformity (-), scars (-), nodules (-), mass (-),
Palpation: not done
Percussion: not done
Auscultation: normal breath sound, vesicular breath sound in both

lungs, wheezing -/-, ronchi -/Inspection: one 0,5x0,5 cm neurofibroma in left iliac quadrant (see

Pulmonary

Abdomen

Case Report
Adam Vrbanic
Exchange Student - Croatia
Picture 4)

neurofibroma

Extremities

Auscultation: not done

Palpation : not done

Percussion: not done

Edema (-), deformity (-), CRT < 2 seconds, caffe au lait spots (+) at left
forearm (see Picture 5), one neurofibroma 0,5x0,5cm at right forearm (see
Picture 3)

Neurological status
GCS
: E4 V5 M6 (GCS 15)
Motoric
Motoric strength:

5555

5555

4444

4444

Physiological Reflexes
Biceps +2 / +2
Triceps +2 / +2
Pathological Reflexes
Babinski - / Chaddok - / -

Tonus

Good

Involuntary

Good
ik

Good
ik
Good
movements : - / -

Sensory
Eksterioceptive
feels

+
Sim
etris
+ik

+
+ik

Case Report
Adam Vrbanic
Exchange Student - Croatia

Proprioception:

Attachment

+ik

+ik

Picture 1. Cataract on the left eye;

Reconstructed bilateral cheilognathopalatoschisis

Picture 2. Mass on the left occipital

Picture 3. Neurofibroma on the forearm

Picture 4. Neurofibroma on left iliac region

Case Report
Adam Vrbanic
Exchange Student - Croatia

Picture 5. Caf au lait spots on forearm

Case Report
Adam Vrbanic
Exchange Student - Croatia

Picture 6. Patient and Adam

Diagnosis
Neurofibromatosis type 2

Planning teraphy
Check up for a month

Prognosis
Ad vitam
Ad fungsionam
Ad sanaktionam

: dubia ad bonam
: dubia ad malam
: malam

Case Report
Adam Vrbanic
Exchange Student - Croatia

Chapter II
Neurofibromatosis
II.1 Definitions
Neurofibromatosis is a genetic disorder that disturbs cell growth in nervous system,
causing tumors to form on nerve tissue. These tumors may develop anywhere in your nervous
system, including in brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in
childhood or early adulthood.
The tumors are usually noncancerous (benign), but in some cases these tumors
become cancerous (malignant) tumors. People with neurofibromatosis often experience only
mild symptoms. Effects of neurofibromatosis can range from hearing loss, learning
impairment, and heart and blood vessel (cardiovascular) complications to severe disability
due to nerve compression by tumors, loss of vision and severe pain.
Neurofibromatosis treatment aims to maximize healthy growth and development and
to manage complications as soon as they arise. When neurofibromatosis causes large tumors
or tumors that press on a nerve, surgery may help ease symptoms. Some people may benefit
from other therapies, such as stereotactic radiosurgery, medications to control pain or
physical therapy.
II.2 Causes
Neurofibromatosis is caused by genetic defects (mutations) that either are passed on
by a parent or occur spontaneously at conception. Each form of neurofibromatosis is caused
by mutations in different genes. NF1 and NF2 are both autosomal dominant disorders (see
Picture 7), which means that any child of a parent with the disorder has a 50 percent chance
of inheriting the genetic mutation. The inheritance pattern for schwannomatosis is less clear.
Researchers currently estimate that the risk of inheriting schwannomatosis from an affected
parent is about 15 percent.

Case Report
Adam Vrbanic
Exchange Student - Croatia
Neurofibromatosis 1 (NF1)
The NF1 gene is located on chromosome 17. Normally, this gene produces a protein called
neurofibromin, which is abundant in nervous system tissue and helps regulate cell growth. A
mutation of the NF1 gene causes a loss of neurofibromin, which allows cells to grow
uncontrolled.
Neurofibromatosis 2 (NF2)
The NF2 gene is located on chromosome 22, which produces a protein called merlin. A
mutation of the NF2 gene causes loss of merlin, which also leads to uncontrolled cell growth.
Schwannomatosis may be associated with a mutation of the SMARCB1 gene located
on chromosome 22. Other gene mutations may be involved in schwannomatosis. The
occurrence of schwannomatosis may be inherited or may be sporadic (spontaneous), but these
are not known yet.

Picture
7.
Autosomal
inheritance pattern

dominant

In an autosomal dominant disorder, the

mutated gene is a dominant gene located
on one of the nonsex chromosomes
(autosomes). It needs only one mutated
gene to be affected by this type of
disorder. A person with an autosomal
dominant disorder in this case, the
father has a 50 percent chance of
having an affected child with one mutated
gene (dominant gene) and a 50 percent
chance of having an unaffected child with
two normal genes (recessive genes).
I
II.3 Risk Factors
The biggest risk factor for neurofibromatosis is a family history of the disorder. About
half of NF1 and NF2 cases are inherited. The remaining cases result from spontaneous
mutations that occur at conception (de novomutations).
NF1 and NF2 are both autosomal dominant disorders, which means that any child of a
parent with the disorder has a 50 percent chance of inheriting the genetic mutation (see
Picture 7).
The inheritance pattern for schwannomatosis is less clear. Researchers currently
estimate that the risk of inheriting schwannomatosis from an affected parent is about 15
percent.
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Case Report
Adam Vrbanic
Exchange Student - Croatia
II.4 Symptoms
Three distinct types of neurofibromatosis exist, each with different signs and symptoms.
Neurofibromatosis 1 (NF1)
Neurofibromatosis 1 (NF1) usually appears in childhood. Signs and symptoms
include:
Flat, light brown spots on the skin. These harmless spots, also called cafe au lait
spots, are common in many people. If you have more than six of them, it's a strong
indication of NF1. In NF1, cafe au lait spots are usually present at birth or appear
during the first years of life and then stabilize. They aren't serious but can

sometimes be a cosmetic concern.

Freckling in the armpits or groin area. Freckling usually appears by age 4 or 5.
Soft bumps on or under the skin (neurofibromas). Neurofibromas are benign
tumors that can be located anywhere in the body. Many people develop tumors in
the skin or under the skin, but neurofibromas can also grow inside of the body.

Sometimes, a growth will involve multiple nerves (plexiform neurofibroma).

Tiny bumps on the iris of your eye (Lisch nodules). Lisch nodules harmless
lesions in your eye can't easily be seen just by looking at them, and they don't
affect your vision. However, your doctor can detect these lesions using a special

instrument.
Bone deformities. Abnormalities in the way bones grow and a deficiency in bone
mineral density can cause bone deformities such as a curved spine (scoliosis) or

bowed lower leg.

Learning disabilities. Impaired thinking skills (cognition) are common in
children with NF1, but are usually mild. Children may have difficulty with
language and visual-spatial skills. Children with NF1 often may have a specific

learning disability, such as attention-deficit/hyperactivity disorder (ADHD).

Larger than average head size. Children with NF1 tend to have a larger than
average head size and higher brain volume, but it's unknown whether this is

related to cognitive impairment.

Short stature. Children with NF1 often have a short stature and are below
average in height.
Neurofibromatosis 2 (NF2)
Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and
symptoms of NF2 usually result from the development of vestibular schwannomas
(also known as acoustic neuromas) in both ears. Some other neurotumors are
appearing too (multiple meningiomas, astrocytomas, etc.)
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Case Report
Adam Vrbanic
Exchange Student - Croatia
These benign tumors grow on the nerve that carries sound and balance
information from the inner ear to the brain (the eighth cranial nerve). Resulting
signs and symptoms generally appear in the late teen and early adult years and
may include:
Gradual hearing loss
Ringing in the ears
Poor balance
In some cases, NF2 can lead to growth of schwannomas in other nerves of the
body, including the cranial, spinal, visual (optic) and peripheral nerves. Associated
signs and symptoms may include:
Facial drop
Numbness and weakness in the arms or legs
Pain
Balance difficulties
In addition, NF2 may result in vision problems due to abnormal growth on the
retina (mostly in children) or due to the development of cataracts.
Schwannomatosis
Schwannomatosis is a rare form of neurofibromatosis only recently
recognized. It rarely affects people before their 20s or 30s. Schwannomatosis
causes painful tumors called schwannomas to develop on cranial, spinal and
peripheral nerves, but not on the nerve that carries sound and balance
information from the inner ear to the brain (the eighth cranial nerve).
Because tumors don't grow on this nerve, schwannomatosis doesn't
cause hearing loss, making it different from NF2. As with NF2, though,
schwannomatosis doesn't cause cognitive impairment. Schwannomatosis
mainly causes chronic pain, which can occur anywhere in your body.
II.5 Complications
Complications of neurofibromatosis vary, even within the same family. Generally,
complications result from tumor growth distorting nerve tissue or pressing on internal organs.
It cannot be predicted whether your disease will progress, but most people with
neurofibromatosis experience a mild or moderate form of the disorder, regardless of type.
Neurofibromatosis 1 (NF1) complications
Common complications of NF1 include:
Neurological problems. Learning and thinking (cognitive) difficulties occur in up
to 60 percent of NF1 cases and are the most common neurological problem
associated with NF1. Uncommon complications associated with NF1 include
epilepsy, stroke and buildup of excess fluid in the brain (hydrocephalus).
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Case Report
Adam Vrbanic
Exchange Student - Croatia

Concerns with appearance. Visible signs of neurofibromatosis such as

extensive cafe au lait spots, numerous nerve tumors (neurofibromas) in the facial
area or large neurofibromas can cause anxiety and emotional distress, even if

they're not medically serious.

Skeletal problems. Some children have abnormally formed bones, which can
result in bowing of legs and fractures that sometimes don't heal. NF1 can cause
curvature of the spine (scoliosis) that may need bracing or surgery. NF1 is also
associated with decreased bone mineral density, which increases your risk of weak

bones (osteoporosis).
Visual difficulties. Occasionally in children, a tumor (optic pathway glioma)
growing on the nerve leading from the eye to the brain (optic nerve) can cause

visual problems.
Increase in neurofibromas. Hormonal changes associated with puberty,
pregnancy or menopause may cause an increase in neurofibromas. Most women
with NF1 have healthy pregnancies but will likely need monitoring by an

obstetrician familiar with NF1, in addition to their NF1 specialists.

Cardiovascular problems. People with NF1 have an increased risk of high blood

pressure and, rarely, blood vessel abnormalities.

Cancer. Less than 10 percent of people with NF1 develop cancerous (malignant)
tumors. These usually arise from neurofibromas under the skin or plexiform
neurofibromas involving multiple nerves.
Monitor neurofibromas vigilantly for any change in appearance, size or number.

Changes may indicate cancerous growth. The earlier a malignancy is detected, the
better the chances for effective treatment. People with NF1 also have a higher risk of
other forms of cancer, such as breast cancer, leukemia, brain tumors and some types
of soft tissue cancer.
Neurofibromatosis 2 (NF2) complications
NF2 may cause complications including:
Vestibular schwannomas in both ears, which may grow over time
Partial or total deafness
Facial nerve damage
Visual difficulties
Skin lesions
Weakness or numbness in the extremities
Multiple benign brain tumors (meningiomas) or spinal tumors requiring frequent
surgeries
Schwannomatosis complications
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Case Report
Adam Vrbanic
Exchange Student - Croatia
The pain caused by schwannomatosis can be debilitating and may require
surgical treatment or management by a pain specialist.
II.6 Test and Diagnosis
Physical examination and medical history. Diagnosis of neurofibromatosis 1 (NF1)
is usually based on a physical examination, checking for the characteristics of NF1. A
physical examination is also important for a neurofibromatosis 2 (NF2) diagnosis. A

family history of NF1 or NF2 can help confirm either diagnosis.

Eye exam. Examination by an ophthalmologist can detect tiny bumps on the iris of

eye (Lisch nodules) and cataracts.

Ear exam. Hearing and balance tests such as audiometry, electronystagmography and
brainstem auditory evoked response can help determine the level of hearing and

balance function in a person with NF2.

Imaging tests. Imaging tests, such as X-rays, CT scans and MRIs, aren't always
required, but they can help identify bone abnormalities, deep tumors in the brain or
spinal cord, and very small tumors. An MRI can also help identify optic pathway
gliomas in your eye.Imaging tests may also be particularly helpful in monitoring NF2

and schwannomatosis.
Genetic tests. Genetic tests are available for NF1, NF2 and schwannomatosis, and
may be done prenatally. It is possible to do a genetic counseling.

II.7 Treatment
Neurofibromatosis cannot be cured, only monitoring patient for complications and
treating his symptoms. Appropriate treatment should begin as early as possible. Generally,
the sooner the patient is under the care of a doctor trained in treating neurofibromatosis, the
better the outcome.
Monitoring
Checkups to:
Assess child's skin for new neurofibromas or changes in existing ones
Check child's blood pressure for signs of high blood pressure
Evaluate child's growth and development including height, weight and head
circumference according to growth charts available for children with NF1
Check for signs of early puberty
Evaluate child for any skeletal changes and abnormalities
Assess child's learning development and progress in school
Obtain a complete eye examination of child's eyes
Once a child with NF1 reaches adulthood, the frequency of monitoring can be
adjusted to suit the needs of the person with NF1. Adults with mild disease may not
need monitoring as often as someone with more-severe complications.
If having schwannomatosis, may be given medications to help controling pain.
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Case Report
Adam Vrbanic
Exchange Student - Croatia

Surgery and other procedures

Surgery. Removal of all or part of tumors that are compressing nearby tissues or
damaging organs. Surgery may help relieve symptoms of all forms of
neurofibromatosis.Complete

removal

of

schwannomas

in

people

with

schwannomatosis can ease pain substantially.If having neurofibromatosis 2 (NF2) and

have experienced hearing loss, brainstem compression or tumor growth, surgery to
remove vestibular schwannomas is recommended. Surgery may help improve hearing.
However, surgery carries risks, including hearing loss or damage to the facial nerves.

Tumors often grow back, and surgery may not be recommended again.
Stereotactic radiosurgery. If having NF2, stereotactic radiosurgery can be used to
remove vestibular schwannomas. This procedure allows to deliver radiation very
precisely to the location of the tumor, and it can help preserve hearing to an extent.
However, it may create a concern of radiation-induced cancer, especially if the

radiation is applied repetitively and at a young age.

Auditory brainstem implants and cochlear implants. If patient has NF2 and
hearing loss, he may be eligible for auditory brainstem implants or cochlear implants
to help improve his hearing.
Cancer treatment
Malignant tumors and other cancers associated with neurofibromatosis are
treated with standard cancer therapies, such as surgery, chemotherapy and radiation
therapy. However, early recognition of malignant tumors and early treatment are the
most important factors resulting in good outcome.

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