Also
known as phakomatoses, these are a variety of diseases which have
neurologic as well as cutaneous findings. They also have a tendency
to occur in families. Four syndromes which may be seen by a
neurosurgeon are
- tuberous sclerosis
- von Hippel-Lindau disease
- neurofibromatosis
- Sturge Weber syndrome
Tuberous sclerosis: also known
as Bourneville's disease; patients have hamartomas or many organs
including the skin and brain. These patients may have seizures,
mental retardation and sebaceous adenomas.
von Hippel-Lindau disease:
these patients tend to develop angiomas (blood vessel abnormalities)
in the retina, hemangioblastomas (often of cerebellum) of the brain
and spinal cord, renal cell carcinoma, pheochromocytomas, and other
abnormalities. If the lesion in the cerebellum becomes the
problem, patients may present with nausea, vomiting, and headache.
neurofibromatosis: there are
two types, neurofibromatosis 1 (nf1) and neurofibromatosis 2 (nf2).
Nf1 patients may have "cafe-au-lait"
spots on the skin, neurofibromas of any type, as well as other
lesions. Associated with this may be a variety of other
tumors in the brain and the rest of the body.
Nf2 patients may have acoustic neuromas
on both sides, or a relative with nf2 and tumors. These
patients may also have a number of other tumors within the central
nervous system.
Sturge Weber syndrome: These
patients may have cerebral atrophy, "port-wine" nevus
in the distribution of the ophthalmic division of the trigeminal
nerve (around and above the eye on one side of the face), and seizures
on the opposite side of the body. There are calcifications
in the cortex of the brain.
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