A Newborn With Neurocutaneous Melanocytosis and Dandy-Walker Malformation

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• 作者：Jens De Cock ; Julie Snauwaert ; Walter Van Rompaey ; Marie-Anne Morren ; Philippe Demaerel
• 关键词：neurocutaneous syndromes ; melanocytosis ; congenital nevi ; Dandy-Walker malformation
• 刊名：Pediatric Neurology
• 出版年：March, 2014
• 年：2014
• 卷：50
• 期：3
• 页码：276-278
• 全文大小：616 K

文摘

Background

Neurocutaneous melanocytosis is a rare congenital dysplasia of the neuroectodermal melanocyte precursor cells that leads to proliferation of melanin-producing cells in the skin and leptomeninges.

Patient

We describe a newborn with a giant congenital melanocytic nevus on his back, buttocks, and thighs. His brain magnetic resonance imaging study revealed bilateral T1 hyperintense lesions in the cerebellum and in the amygdala, hydrocephalus, and a Blake's pouch cyst, consistent with neurocutaneous melanocytosis and Dandy-Walker malformation.

Conclusion

Neurocutaneous melanocytosis has a wide clinical spectrum that includes hydrocephalus, epilepsy, cranial nerve palsy, increased intracranial pressure, and sensorimotor deficits.