A case of typical NF1 with cystic astrocytoma

Posted by Dr.Chakravarthi Dr.Chakravarthi
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:  

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.
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.

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.

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.
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.