Large congenital melanocytic nevi presenting with lissencephaly with an absent corpus callosum.
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.
Takano
Tomoyuki
T
Department of Pediatrics, Shiga University of Medical Science, Seta-Tsukinowa, Otsu, Japan. tmyktkn@belle.shiga-med.ac.jp
Morimoto
Mayumi
M
Sakaue
Yuko
Y
Takeuchi
Yoshihiro
Y
Aotani
Hirofumi
H
Ohno
Masaki
M
D061085:Agenesis of Corpus Callosum; D006801:Humans; D007231:Infant, Newborn; D054082:Lissencephaly / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D009508:Nevus, Pigmented / Q000150:complications / Q000151:congenital*