CONTENTS

Preface xiTina Young Poussaint

The Phakomatoses 139Bruce R. Korf

The phakomatoses are a diverse set of disorders related principally by a similar tendency to produce patchy manifestations that affect the nervous system and variousother tissues. All of the disorders involve the occurrence of benign neoplasms or hamar-tomatous growths, and all involve the action of a distinct gene that functions as a tumorsuppressor. At present, none of the phakomatoses is amenable to effective medicaltreatment, so management is limited to surveillance and treatment of progressivelesions. The radiologist plays a key role in this management, participating in diagnosisand follow-up of affected patients.

Neuroimaging Findings in Neurofibromatosis Type 1 and 2 149Diana Rodriguez and Tina Young Poussaint

Neuroimaging, particularly MR imaging, plays an important role in the diagnosis andmanagement of the patient with neurofibromatosis type 1 and 2. These phakomatosesare complex disorders affecting multiple cell types and multiple systems of the bodywith a wide range of expression. This article summarizes the neuroradiologic centralnervous system findings in these neurocutaneous disorders.

Neuroimaging of Phakomatoses: Sturge-Weber Syndrome, Tuberous Sclerosis,Von Hippel-Lindau Syndrome 171James G. Smirniotopoulos

This article discusses the imaging characteristics of Sturge-Weber syndrome, tuberoussclerosis, and von Hippel-Lindau syndrome.

The Rare Phakomatoses 185Simon Edelstein, Thomas P. Naidich, and T. Hans Newton

This article outlines the clinical, central nervous system, and neuropathologic features,pathogenesis, genetics, molecular biology, and neuroimaging characteristics of the rarevascular phakomatoses, melanophakomatoses, and organoid phakomatoses.

GENETICS AND NEUROIMAGING

VOLUME 14 • NUMBER 2 • MAY 2004 vii

Genetics of Disorders of Cortical Development 219John N. Gaitanis and Christopher A. Walsh

Since the advent of MR imaging, cortical malformations have become an increasinglyrecognized cause of epilepsy and neurologic impairment. Improved radiographic char-acterization of cortical malformations has been requisite to defining their genetics, and alarge portion of these disorders are now known to have a genetic basis. Uncoveringgenetic etiologies has provided insight into phenotypic diversity, revealed the impor-tance of de novo mutations, and resulted in improved radiographic-genetic correlation.This article provides an overview of major cerebral cortical malformations and focuseson the genetic mechanisms of their causation.

Neuroimaging in Disorders of Cortical Development 231A. James Barkovich and Charles A. Raybaud

Malformations of cortical development are important causes of developmental delayand epilepsy. They are classified by the presumed stage during which normal develop-ment is interrupted: neuronal proliferation and differentiation, neuronal migration, andlate migration/cortical organization. This article discusses the important malformationsin each of these groups, how and why the malformations develop, and their imagingfindings. A better understanding of these disorders helps in genetic counseling of theparents and may help in the treatment of associated epilepsy.

Sonography of the Fetal Central Nervous System 255Carol E. Barnewolt and Judy A. Estroff

This article presents a general overview of fetal sonography and an approach to thesonographic evaluation of the fetal central nervous system. Annotated images of anom-alies of the fetal head, brain, spine, face, and neck are shown. Sonographic technique,including the choice of transducers and imaging windows is presented. The comple-mentary relationship of fetal neurosonography and fetal MR imaging is covered, and thestrengths and weaknesses of each modality are discussed.

MR Imaging of Fetal Head and Neck Anomalies 273Caroline D. Robson and Carol E. Barnewolt

This article describes an approach to imaging of fetal head and neck anomalies. Topicsinclude cleft lip and palate, facial clefts, amniotic band sequence, micrognathia and retrognathia, ocular and orbital abnormalities, craniosynostosis, posterior nuchaltranslucency, cephaloceles, vascular anomalies, and tumors. Some of the more commonsyndromes are also described.

Fetal Imaging of Central Nervous System Abnormalities 293Anna M. Golja, Judy A. Estroff, and Richard L. Robertson

Fetal MR imaging is complementary to obstetric ultrasonography. The additional infor-mation provided by in utero MR imaging may alter prenatal, perinatal, or immediatepostnatal management. For example, the MR imaging findings may affect the decisionto continue the pregnancy, change the mode, timing, or location of delivery, or modifydecisions regarding the necessity of immediate postnatal surgery. Finally, the informa-tion contributed by MR may permit a better assessment of the risk of recurrent defectsin subsequent pregnancies.

viii CONTENTS

A Neuroimaging Approach to Inborn Errors of Metabolism 307Susan Blaser and Annette Feigenbaum

There are numerous neurodegenerative and neurometabolic disorders of childhood.Individually, however, they are quite rare. Some may be seen only once in a lifetime at agiven medical center, even one devoted to the specialized care of children. This articlepresents the classic neuroimaging features of some of the more commonly seen entitiesand of some of the more recently described metabolic disorders.

Molecular Imaging of Cell-Based Therapies 331Dawid Schellingerhout and Lee Josephson

This article focuses on molecular imaging of novel cell-based therapies, particularlystem cell therapies and the adoptive transfer of imuunocytes. The animal models,potential clinical applications, and likely future prospects of these therapies are discussedin the context of imaging.

Index 343

CONTENTS ix