AUTHOR=Shi ZhiH , Sun TingT , Yin Juan , Qiu Shuo , Wang YueM , Leng JunH 

TITLE=Case Report: Prenatal ultrasound presentation of congenital melanocytic nevus syndrome

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 12 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1466999

DOI=10.3389/fped.2024.1466999

ISSN=2296-2360

ABSTRACT=Congenital melanocytic nevus (CMN) syndrome is a rare, non-familial neural ectodermal dysplasia characterized by CMN combined with extracutaneous abnormalities, predominantly involving the central nervous system (CNS). The pathogenesis of CMN syndrome is thought to result from early post-zygotic somatic mutations. CNS melanosis frequently affects the anterior temporal lobes, brainstem, cerebellum, and cerebral cortex. Magnetic resonance imaging typically demonstrates T1 hyperintensity associated with CNS melanosis, while ultrasound often reveals abnormal echogenicity. We report a case of a fetus diagnosed with CMN syndrome, presenting with abnormal echogenicity in the cerebellar and amygdaloid complexes and a posterior fossa cyst. Autopsy identified two melanocytic nevi on the lumbosacral region of the fetus. Reports linking CMN syndrome to fetal intracranial abnormalities remain exceedingly rare.