Neuroimaging of Phakomatoses

Research output: Contribution to journalArticle

Abstract

The phakomatoses are congenital disorders manifesting with central nervous system and cutaneous abnormalities. The structures predominantly affected are those of ectodermal origin, including the skin, nervous system, and eyes. The 4 most common phakomatoses are neurofibromatosis (types 1 and 2), tuberous sclerosis, Sturge-Weber disease, and von Hippel-Lindau disease. Imaging of the brain and spine in these disorders plays an important role in diagnosis, as well as determining the extent of involvement and guiding surgical interventions. This article reviews the application of x-ray computed tomography and magnetic resonance imaging to these disorders, as well as that of newer, "functional" imaging techniques such as positron emission tomography, magnetic resonance perfusion imaging, and spectroscopy.

Original languageEnglish (US)
Pages (from-to)48-62
Number of pages15
JournalSeminars in Pediatric Neurology
Volume13
Issue number1
DOIs
StatePublished - Mar 2006

Fingerprint

Neurocutaneous Syndromes
Neuroimaging
Skin Abnormalities
Magnetic Resonance Imaging
Sturge-Weber Syndrome
Neurofibromatosis 2
Nervous System Malformations
von Hippel-Lindau Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Tuberous Sclerosis
Neurofibromatosis 1
Perfusion Imaging
Positron-Emission Tomography
Nervous System
Spine
Magnetic Resonance Spectroscopy
Central Nervous System
Tomography
X-Rays
Skin

Keywords

  • brain
  • computed tomography
  • magnetic resonance imaging
  • neurocutaneous
  • neurofibromatosis
  • perfusion
  • phakomatosis
  • spectroscopy
  • spine
  • Sturge-Weber
  • tuberous sclerosis
  • von Hippel-Lindau

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Neuroimaging of Phakomatoses. / Lin, Doris; Barker, Peter B.

In: Seminars in Pediatric Neurology, Vol. 13, No. 1, 03.2006, p. 48-62.

Research output: Contribution to journalArticle

@article{3ed80d6a305d4aa0b4a0d51fdb3277e5,
title = "Neuroimaging of Phakomatoses",
abstract = "The phakomatoses are congenital disorders manifesting with central nervous system and cutaneous abnormalities. The structures predominantly affected are those of ectodermal origin, including the skin, nervous system, and eyes. The 4 most common phakomatoses are neurofibromatosis (types 1 and 2), tuberous sclerosis, Sturge-Weber disease, and von Hippel-Lindau disease. Imaging of the brain and spine in these disorders plays an important role in diagnosis, as well as determining the extent of involvement and guiding surgical interventions. This article reviews the application of x-ray computed tomography and magnetic resonance imaging to these disorders, as well as that of newer, {"}functional{"} imaging techniques such as positron emission tomography, magnetic resonance perfusion imaging, and spectroscopy.",
keywords = "brain, computed tomography, magnetic resonance imaging, neurocutaneous, neurofibromatosis, perfusion, phakomatosis, spectroscopy, spine, Sturge-Weber, tuberous sclerosis, von Hippel-Lindau",
author = "Doris Lin and Barker, {Peter B}",
year = "2006",
month = "3",
doi = "10.1016/j.spen.2006.01.011",
language = "English (US)",
volume = "13",
pages = "48--62",
journal = "Seminars in Pediatric Neurology",
issn = "1071-9091",
publisher = "W.B. Saunders Ltd",
number = "1",

}

TY - JOUR

T1 - Neuroimaging of Phakomatoses

AU - Lin, Doris

AU - Barker, Peter B

PY - 2006/3

Y1 - 2006/3

N2 - The phakomatoses are congenital disorders manifesting with central nervous system and cutaneous abnormalities. The structures predominantly affected are those of ectodermal origin, including the skin, nervous system, and eyes. The 4 most common phakomatoses are neurofibromatosis (types 1 and 2), tuberous sclerosis, Sturge-Weber disease, and von Hippel-Lindau disease. Imaging of the brain and spine in these disorders plays an important role in diagnosis, as well as determining the extent of involvement and guiding surgical interventions. This article reviews the application of x-ray computed tomography and magnetic resonance imaging to these disorders, as well as that of newer, "functional" imaging techniques such as positron emission tomography, magnetic resonance perfusion imaging, and spectroscopy.

AB - The phakomatoses are congenital disorders manifesting with central nervous system and cutaneous abnormalities. The structures predominantly affected are those of ectodermal origin, including the skin, nervous system, and eyes. The 4 most common phakomatoses are neurofibromatosis (types 1 and 2), tuberous sclerosis, Sturge-Weber disease, and von Hippel-Lindau disease. Imaging of the brain and spine in these disorders plays an important role in diagnosis, as well as determining the extent of involvement and guiding surgical interventions. This article reviews the application of x-ray computed tomography and magnetic resonance imaging to these disorders, as well as that of newer, "functional" imaging techniques such as positron emission tomography, magnetic resonance perfusion imaging, and spectroscopy.

KW - brain

KW - computed tomography

KW - magnetic resonance imaging

KW - neurocutaneous

KW - neurofibromatosis

KW - perfusion

KW - phakomatosis

KW - spectroscopy

KW - spine

KW - Sturge-Weber

KW - tuberous sclerosis

KW - von Hippel-Lindau

UR - http://www.scopus.com/inward/record.url?scp=33745509036&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33745509036&partnerID=8YFLogxK

U2 - 10.1016/j.spen.2006.01.011

DO - 10.1016/j.spen.2006.01.011

M3 - Article

C2 - 16818176

AN - SCOPUS:33745509036

VL - 13

SP - 48

EP - 62

JO - Seminars in Pediatric Neurology

JF - Seminars in Pediatric Neurology

SN - 1071-9091

IS - 1

ER -