Di Stasi, M;
Mankad, K;
Carney, O;
Loebel, U;
Biswas, A;
Sudhakar, S;
Kinsler, V;
(2023)
Congenital melanocytic naevus syndrome and Dandy-Walker malformation — a mistaken association: case report and literature review.
Neuroradiology
, 65
(6)
pp. 1077-1086.
10.1007/s00234-023-03150-9.
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Abstract
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.
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