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Neuroimaging of Phakomatoses Doris D.M Neuroimaging of Phakomatoses Doris D.M. Lin, MD, PhD,* and Peter B. Barker, DPhil*,† 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. Semin Pediatr Neurol 13:48-62 © 2006 Elsevier Inc. All rights reserved. KEYWORDS phakomatosis, neurocutaneous, neurofibromatosis, tuberous sclerosis, Sturge- Weber, von Hippel-Lindau, magnetic resonance imaging, spectroscopy, perfusion, com- puted tomography, brain, spine he phakomatoses, also known as neurocutaneous syn- tumor suppressor mechanism,1 as well as a more precise Tdromes, consists of a group of disorders that tend to confirmatory test and potentially a means of prenatal diagno- develop hamartomatous malformations and neoplastic sis. Neuroimaging plays an integral part of the clinical eval- growths affecting the skin, the nervous system, and other uation by identifying lesions in the central nervous system. It organs. The more common phakomatoses include neurofi- not only aids the initial diagnosis but is also fundamental in bromatosis (NF), tuberous sclerosis (TS), Sturge-Weber dis- delineating the extent of central nervous system involvement, ease (SW), and von Hippel-Lindau syndrome (VHL). Each of in monitoring disease progression, and in providing an ana- these has distinct clinical features and heterogeneous genetic tomic roadmap for potential surgical intervention. profiles, yet shares the common characteristics of abnormal This article reviews the imaging findings in the more com- development of structures derived from ectodermal origin, mon phakomatoses, including NF types 1 and 2, TS, SW, and such as in the central nervous system (CNS) and skin.1 Of VHL. The CNS manifestations on conventional computed note, even though these are collectively called neurocutane- tomography (CT) scans and magnetic resonance imaging ous syndromes, VHL lacks cutaneous findings, which also (MRI) are discussed as well as the role of other imaging tech- may not always be present in other disorders (eg, NF2). niques such as diffusion-weighted images, magnetic reso- Among these, SW is considered sporadic disease because no nance (MR) perfusion, MR spectroscopy, and the nuclear genetic abnormality has been identified to date. medicine positron-emission tomography (PET) and single These syndromes are typically diagnosed clinically by a photon emission computed tomography (SPECT) tech- number of disease features, yet invariably in each there is a niques. These newer imaging modalities may contribute to spectrum of disease manifestation and severity, sometimes the understanding of the disease process by providing “phys- making the diagnosis challenging. The genetic mutation has iologic” or “functional” information that complements the been identified in most of these entities, providing a better anatomic information present in conventional scans. understanding of the underlying pathophysiology through a Neurofibromatosis *Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD; and NF1 †Kennedy Krieger Institute, Baltimore, MD. Type 1 neurofibromatosis, also called von Recklinghausen’s Supported in part by NIH P41 RR15241 and USARA DAMD 170110713. Address reprint requests to Doris D.M. Lin, MD, PhD, Department of Radi- disease, is the most common phakomatosis that occurs about 2 ology, Phipps B100, Johns Hopkins University School of Medicine, 600 1 in 3,000 to 4,000. It is transmitted as an autosomal dom- N Wolfe Street, Baltimore, MD 21287. E-mail: [email protected] inant trait with the genetic defect localized to chromosome 48 1071-9091/06/$-see front matter © 2006 Elsevier Inc. All rights reserved. doi:10.1016/j.spen.2006.01.011 Neuroimaging of phakomatoses 49 Figure 2 T2-weighted sagittal images of the lumbar spine showing multiple well-circumscribed neurofibromas (A) occupying the in- tradural extramedullary compartment of the spine and (B) expand- ing the neuroforamina. Figure 1 A 6-year-old boy with NF1 and left proptosis. (A) Axial T2 and viduals, NF1 occurs sporadically because of spontaneous (B) post-GdDTPA coronal T1-weighted images show extensive plexiform mutation, and, in fact, it is the syndrome with the highest neurofibroma infiltrating the left face, periorbital soft tissue, masticator mutation rate. Affected individuals manifest with cutaneous space, and parapharyngeal space. The mass is T2 bright with central dark “café au lait” spots, skinfold freckling, and neurofibromas. areas and shows heterogeneous yet avid contrast enhancement. In this case, Lisch nodules, harmartomas of the iris, may also be found. the plexiform neurofibroma also involves the retrobulbar compartment, Neurofibromas are benign tumors arising from the nerve and there is dysplasia of the left greater sphenoid wing. Both contributed to sheath and composed of a mixture of Schwann cells, perineu- the marked distortion of the left orbit. (C) A 22-year-old man with NF1 and ral cells, and fibroblasts.4 The neurofibromas can be nodular left arm pain. Three axial T2-weighted MR images through the lower cer- vical and upper thoracic spine show multiple plexiform neurofibromas and discrete, or they can be diffuse, plexiform neurofibromas 5 involving the neural foramina, paraspinal, and prevertebral regions. The encasing and enlarging multiple nerve fascicles. The plexi- masses in the middle section fill the bilateral neural foramina and cause form neurofibroma is quite infiltrative and vascular and may marked compression of the cord from both sides. occur in the deep spaces of the head and neck causing major disfiguration or in the paraspinal regions, resulting in nerve compression and neurologic deficits (Fig 1). On MRI, these 17q11.2 encoding neurofibromin. Neurofibromin is a tumor masses are typically T1 hypointense and T2 hyperintense, suppressor that regulates Ras-guanosine triphosphate acti- with a variable contrast-enhancement pattern.6 There is esti- vating protein and thereby controls cellular signal transduc- mated to be a 10% risk of development of malignant periph- tion.3 Although it is hereditary, in 50% of the affected indi- eral nerve sheath tumors, often of the plexiform type, in NF1 Figure 3 A 7-year-old girl with NF1. (A) Axial T2-weighted image shows right optic nerve glioma with proptosis. (B) Axial T2 and (C) post-GdDTPA axial T1-weighted images show a right basal ganglia mass with rim enhancement, central necrosis, and associated edema and mass effect on the ventricles resulting in mild obstructive hydrocephalus. Surgical pathology revealed a low-grade astrocytoma. 50 D.D.M. Lin and P.B. Barker Figure 4 A boy with NF1. (A) An axial T2-weighted image shows bilateral op- tic nerve gliomas, which are larger on the right. The distal internal carotid ar- tery flow voids are not well seen. (B) MR angiography of the circle of Willis shows stenosis of the distal internal ca- rotid arteries and complete occlusion at the termini, with no flow in the right middle cerebral artery and severe nar- rowing of the left middle cerebral ar- tery. Many collateralized lenticulostri- ate vessels are seen instead. (C) Axial time-of-flight gradient-echo source im- ages of the MR angiogram again show the moya-moya pattern of collateral vessels around the brainstem and in the bilateral basal ganglia regions. patients.7 Imaging findings of irregular contour and hetero- as well as astrocytomas in other brain regions (Fig 3B and C). geneous enhancement are suggestive of invasive nature; how- The incidence of CNS tumors in NF1 is about 1% to 5%.11 ever, some of the malignant peripheral nerve sheath tumors Among these, the optic nerve gliomas are most common. have a similar appearance to the benign ones. A few studies They are slow-growing tumors that directly infiltrate and suggested that F18-deoxyglucose positron-emission tomog- enlarge the optic nerve and can involve any portion of the raphy (FDG-PET) may be useful in distinguishing the malig- optic pathway including the intraorbital optic nerves, chi- nant from benign peripheral nerve sheath tumors.8-10 Multi- asm, optic tracts, lateral geniculate bodies, and optic radia- ple spinal neurofibromas tend to occur in NF1 patients as tions. The intraorbital and chiasmal optic gliomas may en- tumors in the intradural extramedullary, extradural, or hance with gadolinium-diethylenetriamine penta-acetic acid mixed compartments. They have a characteristic feature of a (GdDTPA) either avidly or mildly, whereas the extension dumbbell shape, expanding the neural foramina (Fig 2) and along the lateral geniculate, optic tracts, and radiations typi- often exhibiting central dark signal on T2-weighted images cally shows expansion and T2 prolongation without contrast reflecting dense collagen formation on histopathology. enhancement. Visual acuity usually declines slowly and is the Intracranially, NF1 patients
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