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A case of
typical NF1 with cystic astrocytoma
Dr.
Manoj Kumar Majhi,
Dept.
Neurosurgery, Apollo Hospitals, Chennai, India.
CNS cystic lesions are rare in neurofibromatosis
type–1.
We present a case of typical case of NF1 with a
posterior fossa cystic astrocytoma.
History of present illness:
This 11
year old right handed baby, came with complaints
of
progressive headache since two months, and
difficulty in walking since a month.
The
headache was continuous, not associated with any vomiting,
blurring of vision, diplopia or drowsiness. This was
associated with head tilt towards the right side.
She is a a
full term born of non-consanguineous parents
and had normal mile stones development.
She started
walking by one and half years. Gait was normal
since a month ago.
The parents
noticed that her swaying and her tendency to
fall when she tried to fast. There was also
difficulty in taking food to mouth while eating. There
was no cough during drinking liquids.
She
had only a pigmented patch over the
right frontal region at birth but later she had
abnormal hair growth
over
the patch. by 2 months of age, she developed
multiple pigmented patches over the body. There was no
abnormal swelling over the skin. Since
last few months, the parents noticed a bulge in
the back in the midline.
There was
no history of seizures or any other relevant history.
She was noticed to have a right sided head tilt and increased
urinary frequency since a month. Patient adopts a right
lateral posture while sleeping.
Family history: Mother has multiple
pedunculated swellings all over the
body.
Clinical
examination:
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|
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Dorsal subctaneous neurofibroma, |
Giant cafe
–au–lait spot |
Mother with
Neurofibromatosis |
She was asthenic, and cachectic.
Her neck was
stiff.
She was
conscious, oriented and alert, with normal speech and higher
mental functions.
Fundi
examination revealed bilateral iris nodules (Lisch nodules)
and bilateral pappilledema.
She had coarse nystagmus and bilateral finger-nose
and finger-nose- finger in co-ordination were
present.
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Gait was ataxic and broad based gait
with a tendency to sway towards left side.
Rhomberg's sign was positive.
There was no other neurological
deficit.
A smooth, soft to firm, subcutaneous
swelling in the lower dorsal region, with no cough
impulse/translucency.
There
was mild dorsal scoliosis. Her skull was
asymmetrical.
There
was a large pigmented patch over the right frontal
region with hair growth over the patch and multiple
pigmented patches over the body.
Investigations:
MRI brain: A large well defined smooth
marginated cystic SOL in the
vermis and extending inferiorly with
compression of 4th ventricle outlet causing
hydrocephalus and tonsilar herniation.
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Course in the hospital:
To support the diagnosis of Neurofibromatosis -type 1
(NF1), she had a multiple (more than six) giant cutaneous cafe
–au –lait spots, a large dorsal subctaneous neurofibroma,
bilateral Lish nodules, and mother(1st degree relative) with
NF1 (large number of cutaneous neurofibromas).
In view of
the MRI finding, a presumptive diagnosis of cystic low grade
glioma was made.
On
4.3.2004, she underwent a midline
suboccipital craniotomy after an EVD insertion.
Peroperatively after opening the dura the
arachnoid was seen to be laden with
hemoglobin degradation products. A small part of
the cyst was dorsal to the tonsils but major
portion, was ventral to it. The cyst was
evacuated, the contents were pertinacious thick clear
yellow colored fluid, which coagulated fully
in about 30min. There was no mural
nodule.
Postoperatively the gait, finger nose in coordination
and head tilt and gait improved. | 
