Neurofiromatosis Type 1: What to Do and What not

Abstract

Background: Neurofibromatosis type 1, or Von Recklinghausen disease, is the most common of the neurocutaneous syndromes, occurring in approximately 1 in 3000 people. Cutaneous, Systemic and Neurological features are the main items that the patients suffering from them. Their management is palliative, either cosmetic or function preservation.

Case presentation: We present a 3.5 years old female with unilateral cranio-orbito-facial enlarging and infiltrating mass, involving forehead, orbit and its contents. There is also right Hemicraniocerebral Hypertrophy and right sided large single ventricle. She had no neurologic deficit, except inability to open right eye (mass infiltration). She underwent right orbital roof decompression for the management of right exophthalmous, at the 6 month of age, as the earliest presentation of the patient. We have done right sided orbital excentration, further advancement of orbital rim and reconstructive cranioplasty in accompany with right occuloplastic orbital prosthesis.

Conclusion: In NF-1, the definite diagnosis is by finding of Lisch Nodule, which is age dependent, but the management is palliative and controversial. Right orbital roof decompression as the management of early exophthalmous (at 6 month of age), seems to be inappropriate. Are reconstructive Palliative and cosmetic surgery (above mentioned ones) appropriate, sufficient and efficacious? What should we do about Hemicraniocerebral Hypertrophy and ventriculomegaly?