Volume 3 Issue 2 ISSN:

Neurocutaneous Syndromes: Diagnostic Aspects of Magnetic Resonance Imaging

Antonio G. L. Junior1*, Lorena Saraiva de Alencar1, Nina M. P. Abreu1, July R.M Machado1, Hilanne Linhares Andrade de Aquino1, Juliana Saraiva de Alencar3, Lucas Olímpio Coimbra2, Pablo P. A. Coimbra1.
 

1.Radiology Unit, Hospital Antonio Prudente, Fortaleza, CE, Brazil.

2.Centro Universitário Christus, Fortaleza, CE, Brazil.

3.Universidade Estadual Do Ceará, Fortaleza, CE, Brazil.


Corresponding Author: Antonio Gomes Lima, Radiology Unit, Hospital Antonio Prudente, Fortaleza, CE, Brazil.


Copy Right: © 2021 Antonio Gomes Lima. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.  


Received Date: July 29, 2021

Published date: August 01, 2021
DOI: 10.1027/marne.2021.0118

Abstract

Neurocutaneous syndromes are diseases that generate ocular, cutaneous and neurological changes, being generated by changes in structures that are formed from the embryonic ectoderm and most of them have a genetic origin and can generate tumors in multiple organs. The main examples of this group of diseases are type I Neurofibromatosis, which usually manifests before the age of 10 years, type II neurofibromatosis, which usually affects patients between 20 and 40 years old and other diseases.

For example, Tuberous Sclerosis and the Sturge Weber Syndrome. The specific findings of magnetic resonance imaging and the patient's clinical history are essential to establish the diagnosis of neurocutaneous syndromes. Clinical cases from our institution between 2017 and 2019, which were diagnosed by radiologists specialized in neuroimaging and based on the diagnosis of the clinical history and diagnostic imaging criteria of this syndrome, will be discussed.

Keywords: Neurocutaneous Syndromes, Magnetic Resonance Imaging, Neurofibromatosis.


Neurocutaneous Syndromes: Diagnostic Aspects of Magnetic Resonance Imaging

Introduction

Neurocutaneous syndromes are clinical entities that comprise oculoneurocutaneous disorders characterized by the involvement of structures arising from the embryonic ectoderm. Most are hereditary and can form tumors in various organs, especially in the CNS. The three main diseases in this group are type 1 neurofibromatosis (NF1), type 2 neurofibromatosis (NF2) and von Hippel-Lindau syndrome; also highlighting the tuberous sclerosis complex and some rare syndromes such as Sturge Weber syndrome and neurocutaneous melanosis. NF1 is the most common, manifesting in general up to 10 years of age, mainly in café au lait spots, ephelides, cutaneous neurofibromas, optic gliomas and iris hamartomas, which may be associated with intramedullary astrocytoma. NF2 is less common, affecting patients aged between 20 and 40 years, associated with bilateral vestibular schwannomas, in addition to meningioma, glioma or juvenile/cataract posterior subcapsular lenticular opacities. Tuberous sclerosis complex is characterized by non-malignant hamartomas and neoplastic lesions in the brain, heart, skin, kidney, lung and other organs, in addition to being associated with autism, epilepsy and neurocognitive disabilities. Sturge Weber syndrome is represented by a port-wine stain, usually on the face, and ipsilateral leptomeningeal angioma, seizures, and glaucoma. Neurocutaneous melanosis is characterized by a pigmented skin area and leptomeningeal melanoma. Specific magnetic resonance imaging (MRI) findings added to clinical criteria are capable of establishing the diagnosis of neurocutaneous syndromes. This study is a pictorial essay focused on demonstrating MRI findings and imaging criteria in neurocutaneous syndromes. Clinical cases diagnosed at our institution between 2017 and 2019 by radiologists specialized in neuroimaging will be presented, based on the current diagnostic criteria for neurocutaneous syndromes.
 

Discussion

Neurocutaneous syndromes correspond to a set of congenital or hereditary diseases that have many characteristics in common: hereditary transmission, involvement of organs of ectodermal origin (nervous system, eyeball, retina and skin), slow evolution of lesions in childhood and adolescence, and disposition for fatal malignant transformation. Except for Sturge-Weber syndrome, these major neurocutaneous syndromes are genetically determined, although sporadic cases may occur. Our study reviews the clinical features of the most common neurocutaneous syndromes.

 

Conclusion

In summary, it is essential to carry out an early diagnosis of neurocutaneous syndromes, based on the patient's clinical history and on the specific changes present in the MRI for the proper treatment and for the prevention of neoplasms and other changes present in sick people who have these diseases.

Conflict of Interest Disclosures: The authors declare that they have no conflict of interest. 

Ethical Statement: Informed consent was obtained from the patients for publication of this case report.


References

1. Costa RM, Yang T, Huynh DP, et al. “Learning deficits but normal development and tumor predisposition, in mice lacking exon 23a of NF1”. Nat Genet 2001;27:354–355.

2. Crowe FW. “Axillary freckling as a diagnostic aid in neurofibromatosis”. Ann Intern Med 1964;61:1142–1143.

3. Dabora SL, Jozwaik S, Franz DN, et al. “Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs”. Am J Hum Genet 2001;68:64–80.

4. De Becker I, Gajda DJ, Gilbert-Barness E, Cohen MM. “Ocular manifestations in Proteus syndrome”. Am J Med Genet 2000;92:350– 352.

5. DeClue JE, Cohen BD, Lowy DR. “Identification and characterization of the neurofibromatosis type 1 protein product”. Proc Natl Acad Sci USA 1991;88:9914–9918.

6. DeGuttierrez A, Salamanca F, Lisker R, et al. “Supernumeray bisatellited chromosome in a family acertained through a patient with Sturge–Weber syndrome”. Ann Genet 1975;18:45–49.

7. Destro M, D’Amico DJ, Gragoudas ES, et al. “Retinal manifestations of neurofibromatosis. Diagnosis and management”. Arch Ophthalmol 1991;109:662–666.

8. Altuna JC, Greenfield DS, Wand M, et al. “Lantanprost in glaucoma associated with Sturge–Weber syndrome: benefits and side effects”. J Glaucoma 1999;8:199–203.

9. Bech K, Jenesen OA. “Racemose haemangioma of the retina”. Acta Ophthalmol 1958;36:769–781.

10. Bech K, Jenesen OA. “On the frequency of coexisting racemose hemangiomata of the retina and brain”. Acta Psychiatr Scand 1961;36: 47–56.

11. Bellester R, Marchuk DA, O’Connell P, et al. “The NF1 locus encoded a protein functionally related to mammalian GAP and yeast IRA proteins”. Cell 1990;63:851–859.

12. Biesecker LG. “The multifaceted challenges of Proteus syndrome”. JAMA 2001;285:2240–2243.

13. Biesecker LG, Peters KF, Darling TN, et al. “Clinical differentiation between Proteus syndrome and hyperplasia: description of a distinct form of hemihyperplasia”. Am J Med Genet 1998;79:311–318.             

 

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