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Clinical Focus: Neurological & Psychiatric Disorders - Original Research

Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience

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Pages 445-452 | Received 07 Jul 2019, Accepted 21 Aug 2019, Published online: 12 Sep 2019

References

  • Klar N, Cohen B, Lin DDM. Neurocutaneous syndromes. Handb Clin Neurol. 2016;135:565–589.
  • Robert HA. Neurocutaneous syndromes. In: Kliegman RA, Jenson HB, Behrman RE, et al., editors. Nelson Textbook of Pediatrics. Vol. 2. 18th ed. Philadelphia: Elsevier; 2008. p. 2438–8.
  • Rosser T. Neurocutaneous disorders. Continuum (Minneap Minn). 2018;24(1Child Neurology):96–129.
  • Ruggieri M, Pratico AD. Mosaic Neurocutaneous Disorders and Their Causes. Semin Pediatr Neurol. 2015;22:207–233.
  • Barros FS, Marussi VHR, Amaral LLZ, et al. The rare neurocutaneous disorders: Update on clinical, molecular and neuroimaging features. Top Magn Reson Imaging. 2018;27:433–462.
  • Metry D, Heyer G, Hess C, et al. PHACE Syndrome Research Conference. Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 2009;124:1447–1456.
  • Winter PR, Itinteang T, Leadbitter P, et al. PHACE syndrome—Clinical features, aetiology and management. Acta Paediatr. 2015;105(02):145-153.
  • Taibjee SM, Bennett DC, Moss C. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: The role of pigmentary genes. Br J Dermatol. 2004;151:269–2824.
  • Mansouri A, Ghadakzadeh A, Maqbool T, et al. Neurofibromatosis Clinic: A report on patient demographics and evaluation of the clinic. Can J Neurol Sci. 2017;44:577-588.
  • Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2019 Jun 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
  • DeBella K, Szydek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000b;105:608–614.
  • National Institutes of Health Consensus Development Conference statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987. Neurofibromatosis. 1988;1(3):172–178.
  • Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278(1):51–57.
  • Northrup H, Krueger DA. International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex diagnostic criteria update: reccomendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243–254.
  • Kundu GK, Ahmed S, Akther S, et al. Pattern of presentation of neurocutaneous syndromes in a tertiary care hospital of Bangladesh. Bangladesh J Child Health. 2019;43(1):15–20.
  • Dahan D, Fenichel GM, El-Said R. Neurocutaneous syndromes. Adolesc Med. 2002;13:495–509.
  • Sadek AA, Samad SNA, Bakheet MA, et al. Multidisciplinary approach for evaluation of neurocutaneous disorders in children in Sohag University Hospital, Upper Egypt. Egypt J Med Human Genet. 2015;16:149–157.
  • Boulanger JM, Larbrisseau A. Neurofibromatosis type 1 in a pediatric population: Ste-Justine’s experience. Can J Neurol Sci. 2005;32:225–231.
  • Dunning-Davies BM, Parker AP. Annual review of children with neurofibromatosis type 1. Arch Dis Child Educ Pract Ed. 2016;101:102–111.
  • Tsipi M, Poulou M, Fylaktou I, et al. Phenotypic expression of a spectrum of Neuorfibromatosis Type 1 (NF1) mutations identified through NGS and MLPA. J Neurol Sci. 2018;395(15):95–105.
  • Purkait R, Samanta T, Thakur S, et al. Neurocutaneous syndrome: A prospective study. Indian J Dermatol. 2011;56(4):375–379.
  • Marjanska A, Jatczak-Gaca A, Wojtkiewicz A, et al. Demographical profile and spectrum of multiple malignancies in children and adults with neurocutaneous disorders. Anticancer Res. 2018;(38):5453–5457.
  • Garcia-Romero MT, Parkin P, Lara-Corrales I. Mosaic neurofibromatosis type 1: a systemic review. Pediatr Dermatol. 2016;33(1):9–17.
  • Duat Rodriguez A, Martos Morenos GA, Martin Santo-Domingo Y, et al. Phenotypic and genetic features in neurofibromatosis type 1 in children. An Pediatr (Barc). 2015;83(3):173–182.
  • Dombi E, Solomon J, Gillespie AJ, et al. NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. Neurology. 2007;68(9):643–647.
  • Lewis RA, Riccardi VM. Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata. Ophthalmology. 1981;88(4):348–354.
  • Ragge NK, Falk RE, Cohen WE, et al. Images of Lisch nodules across the spectrum. Eye (Lond). 1993;(7):95–101.
  • Levy AD, Patel N, Dow N, et al. From the archives of the AFIP: abdominal neoplasms in patients with neurofibromatosis type 1: radiologic-pathologic correlation. Radiographics. 2005;(25):455–480.
  • Ferner RE, O’Doherty MJ. Neurofibroma and schwannoma. Curr Opin Neurol. 2002;15(6):679–684.
  • Pannu AK, Sharma N. Neurofibromatosis type 1 and disseminated malignant peripheral nerve sheath tumor. QJM. 2017;110(9):583–584.
  • Mautner VF, Asuagbor FA, Dombi E, et al. Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol. 2008;10(4):593–598.
  • Tucker T, Friedman JM, Friedrich RE, et al. Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. J Med Genet. 2009;46(2):81–85.
  • Lorenzo J, Barton B, Arnold SS, et al. Developmental trajectories of young children with neurofibromatosis type 1: a longitudinal study from 21 to 40 months age. J Pediatr. 2015;166(4):1006–1012.
  • Plasschaert E, Descheemaeker MJ, Van Eylen L, et al. Prevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1. Am J Genet B Neuropsychiatr Genet. 2015;168(1):72–80.
  • Radtke HB, Sebold CD, Allison C, et al. Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2007;16(4):387–407.
  • Kaas B, Huisman TA, Tekes A, et al. Spectrum and prevalence of vasculopathy in pediatric neurofibromatosis type 1. J Child Neurol. 2013;28(5):561–569.
  • Murphy ES, Xie H, Merchant TE, et al. Review of cranial radiotherapy-induced vasculopathy. J Neuroncol. 2015;122(3):421–429.
  • Levin MH, Armstrong GT, Broad JH, et al. Risk of optic pathway glioma in children with neurofibromatosis type 1 and optic nerve tortuosity or nerve sheath thickening. Br J Ophthalmol. 2016;100:510–514.
  • Friedrich RE, Nuding MA. Optic pathway glioma and cerebral focal abnormal signal intensity in patients with neurofibromatosis type 1: characteristics, treatment choices and follow-up in 134 affected individuals and a brief review of the literature. Anticancer Res. 2016;36(8):4095–4121.
  • Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007;61(3):189–198.
  • Shamji MF, Benoit BG. Syndromic and sporadic pediatric optic pathway gliomas: review of clinical and histopathological differences and treatment implications. Neurosurg Focus. 2007;23(5):E3.
  • Hersh JH. Health supervision for children with neurofibromatosis. Pediatrics. 2008;121(3):633–642.
  • Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13(8):834–843.
  • Prada CE, Hufnagel RB, Hummel TR, et al. The use of magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis type 1. J Pediatr. 2015;167(4):851–856.
  • Viola F, Villani E, Natacci F, et al. Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1. Ophthalmology. 2012;119(2):369–375.
  • Goktas S, Sakarya Y, Ozcimen M, et al. Frequency of choroidal abnormalities in pediatric patients with neurofibromatosis type 1. J Pediatr Ophthalmol Strabismus. 2014;51(4):204–208.
  • Abdolrahimzadeh S, Felli L, Plateroti R, et al. Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1. Br J Ophthalmol. 2015;99(6):789–793.
  • Parrozzani R, Miglionico G, Leonardi F, et al. Correlation of peripapillary retinal fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma. Acta Ophthalmol. 2018;96(8):e1004-1009.

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