RESUMO
Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during embryogenesis in precursors of melanocytes. The severity of neurological manifestations in CMN patients is related to central nervous system abnormalities found at magnetic resonance imaging. The association between CMN and Dandy-Walker malformation (DWM) has been described in the literature, but recent advances in imaging and genetics lead to diagnostic criteria revision. In this paper, we aim to re-evaluate the proposed association by reviewing the available literature and present a patient with CMN and a large posterior fossa cyst.
Assuntos
Síndrome de Dandy-Walker , Melanose , Síndromes Neurocutâneas , Nevo Pigmentado , Humanos , Síndrome de Dandy-Walker/complicações , Síndrome de Dandy-Walker/diagnóstico por imagem , Nevo Pigmentado/complicações , Nevo Pigmentado/diagnóstico por imagem , Nevo Pigmentado/congênito , Melanose/diagnóstico , Melanose/patologia , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/diagnóstico por imagem , Imageamento por Ressonância MagnéticaRESUMO
INTRODUCTION: Pineal, sellar and suprasellar tumours in children comprise a wide range of diseases with different biological behaviours and clinical management. Neuroimaging plays a critical role in the diagnosis, treatment planning and follow up of these patients, but imaging interpretation can prove challenging due to the significant overlap in radiological features. MATERIALS AND METHOD: A review of the literature was performed by undertaking a search of the MEDLINE and EMBASE databases for appropriate MeSH terminology. Identified abstracts were screened for inclusion and articles meeting the objectives of the review were included. RESULTS AND CONCLUSION: In this article, we review radiological appearances of common and uncommon pineal, sellar and suprasellar tumours occurring in the paediatric population. We discuss the importance of anatomical localization, clinical information and cerebrospinal fluid tumour markers, and propose a practical approach to differential diagnosis. Lastly, we discuss future directions and prospective new imaging strategies to support state-of-the-art patient care.