Neurofibromatosis (NF) is an autosomal dominant genetic neurocutaneous
Coverage encompasses visual fields, supranuclear and internuclear gaze pathways, nystagmus and related ocular oscillations, syndromes of the cranial nerves, cavernous sinus syndrome, the pupil, the swollen optic disc, optic atrophy, myasthenia and ocular myopathies, eyelid disorders, headache, carotid artery disease and the eye, nonorganic visual disorders, disorders of higher visual function, neurocutaneous
disorders, and neuroimaging.
While NF1 is a relatively common neurocutaneous
disorder that occurs with a frequency of one in 3000/ segmental NF is more rare, with an estimated prevalence of one in 40,000.
NS that can be associated with other syndromic features such as mental retardation, central nervous system abnormalities, oculocardiac defects, or skeletal abnormalities is called linear NS syndrome, or Schimmelpenning syndrome (a neurocutaneous
Tuberous sclerosis complex (TSC), also called Bourneville's (Bourneville-Pringle) disease, is a rare autosomal dominant neurocutaneous
Can we cure or prevent the consequences of our lethal and life-altering genetic diseases such as epidermolysis bullosa or our neurocutaneous
Tuberous sclerosis is a neurocutaneous
disorder characterised by the development of multiple benign tumours of the embryonic ectoderm.
She had no dysmorphic features or neurocutaneous
The most common symptoms of this neurocutaneous
syndrome include cataracts, scoliosis, fused vertebrae, spina bifida, and delayed mental development [5, 7, 8].
Keywords: Cafe-au-lait spots, Neurofibromatosis, Neurocutaneous
Kandt, "Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous
diseases," Neurologic Clinics, vol.
In the etiology, cortical dysplasias, neurocutaneous
syndromes, hereditary metabolic diseases and prenatal and postnatal brain damage may be involved (5).