Abnormalities of CNS development Simple megalencephaly is common and generally harmless. Its main features are increased brain matter and skull circumference. If it is not due to a tumor, it usually is treated with a shunt. Benign and malignant tumors of the CNS Nerve root and spinal cord neurofibromas can lead to deficits depending on location. Skeletal involvement Progressive kyphoscoliosis may lead to paraparesis without intervention.
Short stature is very common.
Reports of associations with other soft tissue tumors Ophthalmic involvement Lisch nodules are the most common type of ocular involvement in NF-1. Combined hamartomas of the retina and retinal pigment epithelium Retinal capillary hemangiomas Absence of the greater wing of the sphenoid bone may lead to pulsatile proptosis. Optic nerve glioma appears on CT scan or MRI as fusiform dilation of optic nerve. They are locally invasive and slow growing with low malignant potential. Chiasmatic gliomas may invade hypothalamus and third ventricle, causing obstructive hydrocephalus.