J. Lawrence Pool, M.D.: a pioneer in vascular neurosurgery

Abstract

<jats:p>Neurofibromatosis Type 1 (NF1) is one of the most common inherited diseases in humans. It is caused by a mutation in the <jats:italic>NF1</jats:italic> gene on chromosome 17, and is associated with numerous central and peripheral nervous system manifestations. Children with NF1 are at high risk of harboring numerous lesions that may require the attention of a neurosurgeon. Some of these include optic nerve gliomas, hydrocephalus, intraspinal tumors, and peripheral nerve tumors. Although most of the neoplasms that affect the brain, spine, and peripheral nerves of children are low-grade lesions, there is a small but real risk that some of these lesions may become high grade over time, requiring other forms of therapy than surgery alone. Other associated disorders that may result from NF1 in childhood include Chiari malformation Type I, scoliosis, and pulsating exophthalmos from the absence of the sphenoid wing. In this review, the major lesions that are found in children with NF1 are reviewed as well as the types of treatment that are offered by neurosurgeons and other members of the treating team. Today, optimum care of the child with NF1 is provided by a multidisciplinary team comprising neurosurgeons, neurologists, ophthalmologists, radiologists, orthopedic surgeons, and plastic surgeons.</jats:p>

Bilateral plexiform neurofibromas of the brachial and lumbosacral plexuses

“…PN is a common manifestation of NF-1. This entity may be classified as a benign peripheral nerve sheath tumor that involves multiple nerve fascicles or branches of major nerves 3 .…”

Simultaneous Supratentorial and Infratentorial Pilocytic Astrocytomas in an Adult Patient with Concurrent Neurofibromatosis Type 1 and HIV Infection

“…1 Roughly 15%e20% of patients with NF1 will develop low-grade gliomas, with approximately 80% located in the optic pathway, 15% in the brainstem, and the remaining 5% in the cerebellum, cerebral cortex, and subcortical regions. 2 Pilocytic astrocytoma (PA), the most common CNS tumor associated with NF1, 3 usually exhibits less aggressive biological behavior than its counterparts in patients without NF1. 4 Radiologic manifestations of PAs are varied.…”

Monocanalicular Intubation in External Dacryocystorhinostomy

“…When optic nerve gliomas result in visual dysfunction, disfiguring proptosis with exposure keratopathy, or demonstrated growth toward the chiasm, intervention is considered. [16][17][18][19][20][21][22][23][24] In patients with no visual function but who continue to exhibit tumor growth with progressive proptosis and optic canal enlargement, surgical resection is often the treatment of choice as it interrupts retrograde progression toward the chiasm. [12][13][14][15] Case reports and multiple single-arm studies suggest potential benefits of radiation and chemotherapy, 12,13,15 but randomized controlled studies are lacking and some authors believe that both modalities may be no better than the natural course of the disease.…”