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Large congenital melanocytic nevi presenting with lissencephaly with an absent corpus callosum
Author(s) -
Takano Tomoyuki,
Morimoto Mayumi,
Sakaue Yuko,
Takeuchi Yoshihiro,
Aotani Hirofumi,
Ohno Masaki
Publication year - 2008
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2008.00186.x
Subject(s) - lissencephaly , corpus callosum , pathology , neural crest , neuroepithelial cell , medicine , pachygyria , magnetic resonance imaging , anatomy , melanosis , biology , neural stem cell , radiology , stem cell , cancer research , gene , microbiology and biotechnology , embryo , melanoma , biochemistry , genetics
A neonatal case of provisional neurocutaneous melanosis presenting with lissencephaly is reported. Several congenital nevi were observed on the trunk and extremities of the infant, including a giant congenital hairy nevus over the skull. Brain magnetic resonance imaging revealed a marked ventricular dilatation with pachygyria and an absent corpus callosum; however, an injection of gadolinium did not demonstrate any enhanced lesions. Histopathological investigations by a brain biopsy showed a disorganized and anomalous embryonic cerebral architecture, suggesting lissencephaly. The detailed mechanism of this combined pathology is difficult to explain; however, a developmental disturbance was suggested to be present in both the neural crest cells and the neuroepithelial cells, resulting in the development of neurocutaneous melanosis accompanied with lissencephaly.