Child suffering from NF-1 and optic nerve glioma
Short Summary

5-year-old boy with diagnosis of neurofibromatosis type 1 underwent ophthalmological evaluation that showed picture of slight reduction in visual acuity of the right eye and severe hypovision of the left eye with slight reduction of the bilateral visual field. MRI showed presence of a big expansive lesion and of right temporopolar arachnoid cyst. The treating doctors recommended an urgent surgery in order to reduce the cerebral hypertension.

Patient's Questions
In the light of the additional medical information, the child's father asked the neurosurgeon a number of questions that are listed below together with the doctor’s answers. The expert's opinion is requested for each answer in order to provide a direction in the therapeutic choice:
A)   Is the operation essential? YES
B)    Are there any similar cases for objective parallels? NO
C)   Could the patient lose his sight completely if he doesn’t undergo surgery? YES
D)   Risks of surgery? VERY HIGH
E)   Advantages of surgery? THE PATIENT WON’T LOSE HIS SOUND EYE SIGHT
F)   Can chemotherapy replace the operation? NO
G)   After chemotherapy will surgery be necessary in any case? YES
 
The patient’s father asks, moreover, any further opinion could be important in this case even if not referred to the above questions.
Medical Background

4 years old
Diagnosis: NF-1 and optic nerve glioma
To that end the most meaningful reports of the latest medical tests carried out are reported:
Ophthalmological evaluation on 04-2009: “picture of slight reduction in visual acuity of the right eye and severe hypovision of the left eye with slight reduction of the bilateral visual field in the temporal areas in chiasmatic-hypothalamic glioma and NF-1.
The possible therapeutic approach (chemotherapy) should be considered also in the light of the ophthalmological clinical data that have been found. A close monitoring of the visual function every 3 months is however necessary in particular for visual acuity and visual field as there is a good residual visual function only in the right eye”. (Specialist examination report is annexed.)
Brain and encephalic trunk MRI carried out on 04-2009 reports: “Presence of a big expansive lesion in sellar and oversellar region, extremely not homogeneous and mainly cystic that remodels the ethmosphenoid region resulting in an omega-shaped appearance. There is a widespread involvement of the optic nerves in intracranial and intraorbital areas with enlarged and tortuous appearance. Following administration of contrast medium there are proofs of intense impregnation of an anterior extension of the lesion as well as of the walls of the cystic element. In the FLAIR sequence the cystic element appears to be hyperintense due to probable presence of protein material in the context. The carotid syphons are lateralized and the anterior cerebral artery appears to be bilaterally lifted. Faint signal alteration involving the cerebral white matter (ubos in NF1). Presence of right temporopolar arachnoid cyst”.
The doctors of the Padua Hospital who are treating the patient think that an operation is urgent and necessary in order to protect the left eye in the best way. This operation has been explained to the father as follows: “… incision of the head at the level of the right ear (opposite side to the sick eye) in order to make this operation less invasive and dangerous (?!). The aim of surgery is to partially and/or take the fibroma (NF1) in order to analyze it and, above all, to reduce the cerebral hypertension”.

Expert's Opinion

Thus, it appears, although not directly stated, that the arachnoid cyst is larger or is compressing the visual apparatus, while the rest of the findings on the scan may be about the same. In the light of the above, the patient's father asked the neurosurgeon a number of questions. I will provide a few comments, and then answer those same questions.
If the arachoiud cyst has enlarged and is truly exerting compression toward the visual apparatus, then yes, surgery to decompress or remove the cyst is reasonable and medically indicated. Indeed, then, yes, I agree with all the answers from the neurosurgeon below. 
A)   Is the operation essential? YES
B)   Are there any similar cases for objective parallels? NO
C)   Could Alessandro lose his sight completely if he doesn’t undergo surgery? YES
D)   Risks of surgery? VERY HIGH I might temper this response. All neurosurgery has high risk, but this is not an unusual brain operation but one that is relatively straightforward.
E)   Advantages of surgery? THE PATIENT WON’T LOSE HIS SOUND EYE SIGHT
F)   Can chemotherapy replace the operation? NO. I strongly agree. Chemotherapy will not shrink a fluid-filled cyst.  
G)   After chemotherapy will surgery be necessary in any case? YES
Is chemotherapy necessary now? No, following surgery first, the child’s vision should be reassessed by the ophthalmologist. We would maintain our previous recommendation about whether to start or not start chemotherapy.  If the patient has clear significant and notable decline of visual function by fields (i.e., loss of fields) or acuity (i.e., acuity less than the United States measurement of 20/40-20/50 OU), then we would commence chemotherapy. Moreover, if the solid (not cystic) portion of the tumor on MRI is much greater than previous, say 25-33% bigger, then yes, we would start chemotherapy. But, if the visual status has not changed by the criteria I mention or the tumor not 25-33% bigger, then we would observe and not give chemotherapy. We would not be scared into starting chemotherapy just because the child has tortuous optic nerves or a mass at the chiasm, both frequent findings in many children with neurofibromatosis.

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