radiological manifestations of...
TRANSCRIPT
Sandeep Robert Datta, HMS IVGillian Lieberman, MD
Radiological Manifestations of Neurofibromatosis
Sandeep Robert Datta, Harvard Medical School IVGillian Lieberman, MD
September 2003
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• What is Neurofibromatosis? • Diagnostic Criteria for NF
• Radiology and NF Management • Natural History / Sequelae of NF
Overview
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Patient L.R
•17 y.o. female•P/W nausea and headache•History of NF-1•NF-1 Dx at 4 months,
asymptomatic until 2002
Courtesy Mustafa Sahin, M. D., Children’s Hospital
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Differential Dx
•Medulloblastoma•Brainstem Glioma•Pilocytic Astrocytoma•Ependymoma•Metastasis
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Phakomatoses (phakos - “mother spot”)
Neurofibromatosis 1 and 2Tuberous Sclerosis Complex
Von Hippel Lindau SyndromeSturge Weber Syndrome
• Hereditary Transmission• Hamartoma Formation• Slowly Progressive• Predisposition towards Malignancy
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Mechanism of Disease
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Neurofibromatosis I
•Von Recklinghausen’s Disease•Loss-of-Fxn BUT Autosomal Dominant• 1:3000, M=F, all races equally affected• 50% inherited, 50% spontaneous• Neurofibromas• 100% Penetrant/ Variable Expressivity
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• >5 Café-au-Lait Spots •Neurofibromas
2 Cutaneous OR 2 Subcutanous OR 2 Nodular OR 1 Plexiform Neurofibroma
•Axillary/Inguinal Freckling •Optic Glioma •2 Lisch Nodules •Bony Lesions •First-degree relative with NF
Diagnosis of Neurofibromatosis
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Diagnosis: Café-au-Lait Spots/
Cutaneous Neurofibroma
Reynolds et al, Lancet 361:1552 (2003)
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Diagnosis: Subcutaneous Neurofibroma
Relatively Hypoechoic
Delimited
Collagen Deposition
Beggs, J. Clin. Ultra. 27:363 (1999)
Ultrasound, Transverse Axis, Forearm
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Diagnosis: Subcutaneous Neurofibroma
• Fibroblasts cause collagen deposition focally inneurofibromas
• Collagen Deposition is BRIGHT on T2Weighted MRI - assists in diagnosis of NF
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Diagnosis: Subcutaneous Neurofibroma
Beggs, J. Clin. Ultra. 27:363 (1999)
Median Nerve
Ultrasound, Longitudinal Axis, Forearm
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Diagnosis: Nodular Neurofibroma
•Involve Nerve Rootsand Nerves
•Impinge upon Spine
•DDX limited to NFwith multiple masses
Thakkar et al, Neurorad. 41:625 (1999)
MRI, T2-weighted, Coronal C-spine
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Diagnosis: Diffure Plexiform Neurofibroma
MRI, Gad contrast, Coronal, Thoracic spine
Schorry, Am. J. Med. Gen. 74:533 (1997)Ibid.
PA Chest Film
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Diagnosis: Diffure Plexiform Neurofibroma
•DPNs consist of tortuous cords of Schwann Cells
•Thought to be Congenital
•Involve Multiple Nerve Roots
•Overlying Hypertrichosis/Hyperpigmentation
•Frequently associated with adjacent scoliosis
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Diagnosis: Optic Pathway Glioma
•15% of children < 6 •Anywhere along
visual pathway •Can cause sellar
compression •Can cause visual
acuity loss, proptosis
MRI head, axial inversion recovery
Listernick et al, Am. J. Med. Gen. 89:38 (1999)
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Diagnosis: Bony Abnormalities
Leg Film
Courtesy Bruce Korf, M. D.
Courtesy Bruce Korf, M. D.
•Thinning of Cortical Bone •Bowing of Tibia/Forearm •Male Predominance •Pseudoarthrosis
(most common cause) •Sphenoid Dysplasia
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Diagnosis: Bony Abnormalities
DDX of Tibial Bowing •Neurofibromatosis I •Osteogenesis Imperfecta •Pagets Dz •Osteomalacia •Fibrous Dysplasia
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• Annual MRI/CT used to be standard of care.• Now image per symptoms.
Plains films/CT :Modeling changes in long bones/ribsConcerns re: bony erosion from NFsScoliosisBone Pain
MRI:s in head size, hormones, neuro sx, visual statusConcerns re: deep NFs
Role of Radiology in NF1
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• Clinical SyndromesMR, Szs, Altered hormonal status
• Spectrum of DiseaseCNS: Dysplasia, Harmartomas, NeoplasmsOcular: BupthalmosOsseus: Kyphoscoliosis, Tibial bowingGI: Carcinoid TumorEndocrine: PheochromocytomaGU: Wilm’s TumorPulmonary: Interstitial Fibrosis
Sequelae of NF1
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•Dilatation of dural sac•Unknown cause —
possibly congenital•Also in Marfans•Dura erodes adjacent bone
Courtesy Steve Reddy, M. D., BIDMC
Coronal MRI
Sequelae of NF1: Dural Ectasia
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•On T2, no enhancementno mass effect
• Thought to be Hamartomas• Correlate with MR• Often resolve • Not seen on CT
www.emedicine.com.
Axial MRI
Sequelae of NF1: Unidentified Bright Object
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MRI head, FLAIR sequence
Listernick et al., Am. J. Med. Gen. 89:38 (1999)
•Astrocytomas when young(p/w hydrocephalus)•Optic glioma increase risk•Also NF gets other cancers:
Brainstem gliomaLeukemiaPheochromocytomaNeurofibrosarcoma
(MPNSTs)
Sequelae of NF1: Astrocytoma
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Patient L.R
• MPNST• Occur in 5% of pts with
Plexiform NFs• Present in adolescence• Aggressive, often fatal
Courtesy Mustafa Sahin, M. D., Children’s Hospital
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Patient L.R
Courtesy Mustafa Sahin, M. D., Children’s Hospital
CT chest
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Patient L.R c/o neck pain 4.5 mos prior.
CT revealed mediastinal mass deviating trachea.
Bx revealed MPNST.
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Quiz
Skolnick, JAMA 277: 367 (1997).
3D CT Reconstruction
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• Pt is Joseph Merrick, “The Elephant Man”
• Elephant Man Disease - Proteus Syndrome not Neurofibromatosis •Proteus Syndrome - rare (<100 cases ever), bony overgrowth, hemihypertrophy.
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Acknowledgements
Thanks to:• Steve Reddy, M.D., BIDMC• Mustafa Sahin, M. D., Children’s Hospital• Webmaster Larry Barbaras• Gillian Lieberman, MD• Pamela Lepkowski
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References• Reynolds RM, Browning GGP, Nawroz I, Campbell IW. Von
Recklinghausen’s Neurofibromatosis - Neurofibromatosis I. Lancet 2003; 361:1552-54.
• Beggs I. Sonographic Appearance of Nerve Tumors. J. Clin. Ultrasound 1999; 27: 363-368.
• Thakkar SD, Feigen U, Mautner WF. Spinal Tumors in neurofibromatosis type I: an MRI study of frequency, multiplicity and variety. Neuroradiology 1999; 41: 625-629.
• Schorry EK, Crawford AH, Egelhoff JC, Lovell AM, Saal HM. Thoracic tumors in children with neurofibromatosis-1. Am. J. Med. Gen 1997; 74: 533-537.
• Listernick R, Charrow J, Gutmann DH. Intracranial gliomas in neurofibromatosis type I. Am. J. Med. Gen 1999; 89: 38-44.
• Skolmick AA. Radiologists learn results of new therapy trials, hear latest speculations on cause of old disorder. JAMA 1997; 277: 367-369.