We report a newborn with neurocristic cutaneous hamartoma of the scalp. He was delivered at term via caesarean section due to a previous scar and presented at the neonatal unit on the fifth day with giant congenital nevi on the scalp and disseminated melanocytic nevi throughout the body. The MRI scan of the brain showed a defect at the occipital region with herniation of the occipital lobes and ventricles through the defect, with infratentorial brain parenchyma exhibiting normal signal return and intact cerebellum. The initial diagnosis was a giant haemangioma, which has ruptured, and possible cytomegalovirus infection, causing 'blueberry muffin' syndrome. On follow-up, the hamartoma/haemangioma-like mass regressed, and a large well-demarcated melanotic patch on scalp and large encephalocele were seen. This infant is now being scheduled for neurosurgical intervention.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930548PMC
http://dx.doi.org/10.1136/bcr-2022-253156DOI Listing

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