Abstract
Many of the neurocutaneous syndromes are associated with neoplasm, hamartoma, or other abnormal growth. Computer tomography, magnetic resonance imaging, MR neurography, and ultrasound are used to evaluate the alterations. This chapter gives an overview on the application of different imaging techniques for diagnosis of neurofibromatoses including schwannomatosis, tuberous sclerosis, von Hippel-Lindau disease, Sturge-Weber syndrome, ataxia telangiectasia, hereditary hemorrhagic telangiectasia, and Klippel-Trénaunay syndrome.
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References
Creange A, Zeller J, Rostaing-Rigattieri S, et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain. 1999;122:473–81.
Chourmouzi D, Papadopoulou E, Konstantinidis M, et al. Manifestations of pilocytic astrocytoma: a pictorial review. Insights Imaging. 2014;5:387–402.
Panigrahy A, Krieger MD, Gonzalez-Gomez I, et al. Quantitative short echo time 1H-MR spectroscopy of untreated pediatric brain tumors: preoperative diagnosis and characterization. AJNR Am J Neuroradiol. 2006;27:560–72.
Ahlawat S, Blakeley JO, Langmead S, et al. Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Skelet Radiol. 2020;49:199–219.
Bekiesińska-Figatowska M, Brągoszewska H, Duczkowski M, et al. Circle of Willis abnormalities in children with neurofibromatosis type 1. Neurol Neurochir Pol. 2014;48:15–20.
Wiebe S, Munoz DG, Smith S, Lee DH. Meningioangiomatosis. A comprehensive analysis of clinical and laboratory features. Brain. 1999;122:709–26.
Mautner VF, Hartmann M, Kluwe L, et al. MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 2006;24:1–6.
Steen RG, Taylor JS, Langston JW, et al. Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR Am J Neuroradiol. 2001;22:810–7.
Tsirikos AI, Ramachandran M, Lee J, Saifuddin A. Assessment of vertebral scalloping in neurofibromatosis type 1 with plain radiography and MRI. Clin Radiol. 2004;59:1009–17.
Otsuka H, Graham MM, Kubo A, Nishitani H. FDG-PET/CT findings of sarcomatous transformation in neurofibromatosis: a case report. Ann Nucl Med. 2005;19:55–8.
Kresbach C, Dorostkar MM, Suwala AK, et al. Neurofibromatosis type 2 predisposes to ependymomas of various localization, histology, and molecular subtype. Acta Neuropathol. 2021;141:971–4.
Pinto Gama HP, da Rocha AJ, Braga FT, da Silva CJ. Comparative analysis of MR sequences to detect structural brain lesions in tuberous sclerosis. Pediatr Radiol. 2006;36:119–25.
Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol. 1999;20:907–16.
Vaughn J, Hagiwara M, Katz J, et al. MRI characterization and longitudinal study of focal cerebellar lesions in a young tuberous sclerosis cohort. AJNR Am J Neuroradiol. 2013;34:655–9.
Ostrowsky-Coste K, Neal A, Guenot M, et al. Resective surgery in tuberous Sclerosis complex, from Penfield to 2018: a critical review. Rev Neurol (Paris). 2019;175:163–82.
Mukonoweshuro W, Wilkinson ID, Griffiths PD. Proton MR spectroscopy of cortical tubers in adults with tuberous sclerosis complex. AJNR Am J Neuroradiol. 2001;22:1920–5.
Peters JM, Taquet M, Prohl AK, et al. Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions. Future Neurol. 2013;8:583–97.
Lonergan G, Smirniotopoulos J. Case 64: tuberous sclerosis. Radiology. 2003;229:385–8.
Comi AM. Advances in Sturge-Weber syndrome. Curr Opin Neurol. 2006;19:124–8.
Desai S, Glasier CN. Sturge-Weber syndrome. Engl J Med. 2017;377:e11.
Cakirer S, Yagmurlu B, Savas MR. Sturge-Weber syndrome: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy findings. Acta Radiol. 2005;46:407–10.
Adams ME, Aylett SE, Squier W, Chong W. A spectrum of unusual neuroimaging findings in patients with suspected Sturge-Weber syndrome. AJNR Am J Neuroradiol. 2009;30:276–81.
Luat AF, Juhász C, Loeb JA, et al. Neurological complications of Sturge-Weber syndrome: current status and unmet needs. Pediatr Neurol. 2019;8:31–8.
Zallmann M, Leventer RJ, Mackay MT, et al. Screening for Sturge-Weber syndrome: a state-of-the-art review. Pediatr Dermatol. 2018;35:30–42.
Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19:617–23.
Ling H, Cybulla M, Schaefer O, et al. When to look for Von Hippel-Lindau disease in gastroenteropancreatic neuroendocrine tumors? Neuroendocrinology. 2004;80(Suppl 1):39–46.
Opocher G, Conton P, Schiavi F, et al. Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1. Fam Cancer. 2005;4:13–6.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, et al. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11:159.
Tavani F, Zimmerman RA, Berry GT, et al. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology. 2003;45:315–9.
Dineen RA, Raschke F, McGlashan HL, et al. Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia. Neuroimage Clin. 2020;25:102–10.
Tortora A, Riccioni ME, Gaetani E, et al. Rendu-Osler-Weber disease: a gastroenterologist’s perspective. Orphanet J Rare Dis. 2019;14:130.
Saleh M, Carter MT, Latino GA, et al. Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. Pediatr Neurol. 2013;49:445–50.
John PR. Klippel-Trenaunay syndrome. Tech Vasc Interv Radiol. 2019;22:100634.
Antignani PL, Lee BB, Baroncelli TA, et al. IUA-ISVI consensus for diagnosis guideline of chronic lymphedema of the limbs. Int Angiol. 2015;34:311–32.
Abdel Razek AAK. Radiological aspect of Klippel-Trénaunay syndrome: a case series with review of literature. J Comput Assist Tomogr. 2019;43:786–92.
Alwalid O, Makamure J, Cheng QG, et al. Radiological aspect of Klippel-Trénaunay Syndrome: a case series with review of literature. Curr Med Sci. 2018;38:925–31.
Lee BB, Antignani PL, Baraldini V, et al. ISVI-IUA consensus document diagnostic guidelines of vascular anomalies: vascular malformations and hemangiomas. Int Angiol. 2015;34:333–7.
Baumer P, Mautner VF, Baumer T, et al. Accumulation of non-compressive fascicular lesions underlies NF2 polyneuropathy. J Neurol. 2013;260:38–46.
Farschtschi S, Mautner VF, Pham M, et al. Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. Ann Neurol. 2016;80:625–8.
Godel T, Baumer P, Farschtschi S, et al. Peripheral nervous system alterations in infant and adult neurofibromatosis type 2. Neurology. 2019;93:e590–e8.
Godel T, Mautner VF, Farschtschi S, et al. Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2. Ann Neurol. 2018;83:854–7.
Winter N, Rattay TW, Axer H, et al. Ultrasound assessment of peripheral nerve pathology in neurofibromatosis type 1 and 2. Clin Neurophysiol. 2017;128:702–6.
Telleman JA, Stellingwerff MD, Brekelmans GJ, Visser LH. Nerve ultrasound shows subclinical peripheral nerve involvement in neurofibromatosis type 2. Muscle Nerve. 2018;57:312–6.
Baumer P, Dombert T, Staub F, et al. Ulnar neuropathy at the elbow: MR neurography—nerve T2 signal increase and caliber. Radiology. 2011;260:199–206.
Godel T, Baumer P, Pham M, et al. Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy. Neurology. 2017;89:1274–82.
Bendszus M, Stoll G. Technology insight: visualizing peripheral nerve injury using MRI. Nat Clin Pract Neurol. 2005;1:45–53.
Godel T, Pham M, Heiland S, Bendszus M, Baumer P. Human dorsal-root-ganglion perfusion measured in-vivo by MRI. Neuroimage. 2016;141:81–7.
Baumer P, Pham M, Ruetters M, et al. Peripheral neuropathy: detection with diffusion-tensor imaging. Radiology. 2014;273:185–93.
Godel T, Pham M, Kele H, et al. Diffusion tensor imaging in anterior interosseous nerve syndrome—functional MR Neurography on a fascicular level. Neuroimage Clin. 2019;21:101659.
Zhai H, Lv Y, Kong X, Liu X, Liu D. Magnetic resonance neurography appearance and diagnostic evaluation of peripheral nerve sheath tumors. Sci Rep. 2019;9:6939.
Wasa J, Nishida Y, Tsukushi S, et al. MRI features in the differentiation of malignant peripheral nerve sheath tumors and neurofibromas. AJR Am J Roentgenol. 2010;194:1568–74.
Schulz A, Grafe P, Hagel C, et al. Neuropathies in the setting of Neurofibromatosis tumor syndromes: complexities and opportunities. Exp Neurol. 2018;299(Pt B):334–44.
Sperfeld AD, Hein C, et al. Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain. 2002;125(Pt 5):996–1004.
Gehlhausen JR, Park SJ, Hickox AE, et al. A murine model of neurofibromatosis type 2 that accurately phenocopies human schwannoma formation. Hum Mol Genet. 2015;24:1–8.
Lavin MF. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat Rev Mol Cell Biol. 2008;9:759–69.
Schierbeck J, Vestergaard T, Bygum A. Skin cancer associated genodermatoses: a literature review. Acta Derm Venereol. 2019;99:360–9.
Yew YW, Giordano CN, Spivak G, Lim HW. Understanding photodermatoses associated with defective DNA repair: photosensitive syndromes without associated cancer predisposition. J Am Acad Dermatol. 2016;75:873–82.
Yeoh TY, Wittwer ED, Weingarten TN, Sprung J. Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures. J Cardiothorac Vasc Anesth. 2014;28:1243–50.
Dwivedi D, Sheshadri K, Tandon U, Chakraborty S. Klippel-Trenaunay syndrome: a rare entity with anesthesia concerns. J Clin Anesth. 2016;35:233–4.
Isaacs H. Perinatal (fetal and neonatal) tuberous sclerosis: a review. Am J Perinatol. 2009;26:755–60.
Karagianni A, Karydakis P, Giakoumettis D, et al. Fetal subependymal giant cell astrocytoma: a case report and review of the literature. Surg Neurol Int. 2020;11:26.
Leibovitz Z, Guibaud L, et al. The cerebellar “tilted telephone receiver sign” enables prenatal diagnosis of PHACES syndrome. Eur J Paediatr Neurol. 2018;22:900–9.
Massoud M, Cagneaux M, Garel C, et al. Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 2014;44:447–54.
Haratz KK, Oliveira Szejnfeld P, Govindaswamy M, et al. Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly. Ultrasound Obstet Gynecol. 2021.
Cagneaux M, Paoli V, Blanchard G. Pre- and postnatal imaging of early cerebral damage in Sturge-Weber syndrome. Pediatr Radiol. 2013;43:1536–9.
Tanaka K, Miyazaki N, Matsushima M, et al. Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. J Med Ultrason. 2001;2015(42):109–12.
Yu D, Sun L, Chen T. Prenatal ultrasound diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma. J Clin Ultrasound. 2021;49:254–6.
Biard JM, Steenhaut P, Bernard P, et al. Antenatal diagnosis of cardio-facio-cutaneous syndrome: prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. Eur J Obstet Gynecol Reprod Biol. 2019;240:232–41.
Nyberg RH, Uotila J, Kirkinen P, Rosendahl H. Macrocephaly-cutis marmorata telangiectatica congenita syndrome—prenatal signs in ultrasonography. Prenat Diagn. 2005;25:129–32.
Nowaczyk MJ, Mernagh JR, Bourgeois JM, et al. Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. Am J Med Genet. 2000;91:261–6.
Hwang M, Barnewolt CE, Jüngert J, et al. Contrast-enhanced ultrasound of the pediatric brain. Pediatr Radiol. 2021.
Hanes I, Muir K, Abdeen N, Sell E. Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound. Radiol Case Rep. 2020;15:816–8.
van Baalen A, Stephani U, Jansen O. Confirmation of tuberous sclerosis complex by high-resolution ultrasonography. J Child Neurol. 2006;21:741–2.
Ebrahimi-Fakhari D, Mann LL, Poryo M, et al. Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis. 2018;13:117.
Ugalahi M, Olusanya B, Fasina O, et al. Delleman syndrome: a case report from West Africa—features and the challenges of management. Niger Postgrad Med J. 2018;25:191–4.
Parazzini C, Triulzi F, Russo G, et al. Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases. AJNR Am J Neuroradiol. 1999;20:173–6.
Grimalt R, Ermacora E, Mistura L, et al. Encephalocraniocutaneous lipomatosis: case report and review of the literature. Pediatr Dermatol. 1993;10:164–8.
Chen YA, Woodley-Cook J, Sgro M, Bharatha A. Sonographic and magnetic resonance imaging findings of neurocutaneous melanosis. Radiol Case Rep. 2016;11:29–32.
Yakut ZI, Bas AY, Turan A, et al. Early sonographic diagnosis of neurocutaneous melanosis in a newborn. Iran J Radiol. 2014;11:e10107.
Johnson JM, Patten LL, Robson CD, Teele RL. Ultrasonographic detection of intracranial melanocytosis in an infant. Pediatr Radiol. 2010;40:210–4.
Auriemma A, Agostinis C, Bianchi P, et al. Hemimegalencephaly in hypomelanosis of Ito: early sonographic pattern and peculiar MR findings in a newborn. Eur J Ultrasound. 2000;12:61–7.
Ferraz A, Morais S, Mimoso G. Role of the cerebral ultrasound in a case of Sturge-Weber syndrome. BMJ Case Rep. 2019;12:e227834.
Paschoal JK, Paschoal FM Jr, de Lima FT, et al. Detection of cerebral vasculopathy by transcranial Doppler in children with neurofibromatosis type 1. J Child Neurol. 2016;31:351–6.
Jiménez-Legido M, Martínez-de-Azagra-Garde A, Bernardino-Cuesta B, et al. Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome. Eur J Paediatr Neurol. 2020;27:60–6.
Offermann EA, Sreenivasan A, DeJong MR, et al. Reliability and clinical correlation of transcranial Doppler ultrasound in Sturge-Weber Syndrome. Pediatr Neurol. 2017;74:15–23.e5.
Adams RJ, McKie VC, Brambilla D, et al. Stroke prevention trial in sickle cell anemia. Control Clin Trials. 1998;19:110–29.
Brant AJ, James HE, Tung H. Cutaneomeningospinal angiomatosis (Cobb syndrome) with tethered cord. Pediatr Neurosurg. 1999;30:93–5.
Jagła M, Szymońska I, Kruczek P. Sonographic findings in a neonate with Cobb syndrome. J Clin Ultrasound. 2013;41:258–60.
Chen W, Jia JW, Wang JR. Soft tissue diffuse neurofibromas: sonographic findings. J Ultrasound Med. 2007;26:513–8.
Winter N, Dohrn MF, Wittlinger J, et al. Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children. Childs Nerv Syst. 2020;36:2427–32.
Telleman JA, Stellingwerff MD, Brekelmans GJ, Visser LH. Nerve ultrasound: a useful screening tool for peripheral nerve sheath tumors in NF1? Neurology. 2017;88:1615–22.
Telleman JA, Stellingwerff MD, Brekelmans GJ, Visser LH. Nerve ultrasound in neurofibromatosis type 1: a follow-up study. Clin Neurophysiol. 2018;129:354–9.
de Keizer RJ, de Wolff-Rouendaal D, Bots GT, et al. Optic glioma with intraocular tumor and seeding in a child with neurofibromatosis. Am J Ophthalmol. 1989;108:717–25.
Freedman SF, Elner VM, Donev I, et al. Intraocular neurilemmoma arising from the posterior ciliary nerve in neurofibromatosis. Pathologic findings. Ophthalmology. 1988;95:1559–64.
Shields JA, Pellegrini M, Kaliki S, et al. Retinal vasoproliferative tumors in 6 patients with neurofibromatosis type 1. JAMA Ophthalmol. 2014;132:190–6.
Morales J, Chaudhry IA, Bosley TM. Glaucoma and globe enlargement associated with neurofibromatosis type 1. Ophthalmology. 2009;116:1725–30.
Plateroti AM, Plateroti R, Mollo R, et al. Sturge-Weber syndrome associated with monolateral ocular melanocytosis, iris mammillations, and diffuse choroidal haemangioma. Case Rep Ophthalmol. 2017;8:375–84.
Yang Y, Guo X, Xu J, et al. Phakomatosis pigmentovascularis associated with Sturge-Weber syndrome, ota nevus, and congenital glaucoma. Medicine (Baltimore). 2015;94:e1025.
Ledesma-Gil G, Essilfie J, Freund KB, et al. Detection of occult arteriovenous malformation with annular array ultrasonography. Ophthalmic Surg Lasers Imaging Retina. 2020;51:239–43.
Sarrafpour S, Tsui E, Mehta N, Modi YS, Finger PT. Choroidal hemangioma in a black patient with Sturge-Weber syndrome: challenges in diagnosis. Ophthalmic Surg Lasers Imaging Retina. 2019;50:183–6.
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Panteliadis, C.P. et al. (2022). Neuroimaging and Sonography of Neurocutaneous Disorders. In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_3
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