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.

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.