Neurocutaneous Melanosis with Hydrocephalus and Dandy-Walker Variant
Mohammad Sarwar1, Laxminarayan Tripathy1, Harsh Jain1
1Department of Neurosurgery, Medica Institute of Neurological Diseases, Medica Superspecialty Hospital, Kolkata, West Bengal, India.
Asian Journal of Neurosurgery
|January 24, 2022
Abstract:
Neurocutaneous melanosis (NCM) is one of the rare, congenital, noninheritable phakomatoses characterized by the presence of large and/or multiple congenital melanocytic cutaneous nevi associated with intracranial leptomeningeal melanocytosis. NCM usually presents before 2 years of age. So far 302 cases have been reported in literature. We report a case of NCM presenting with obstructive hydrocephalus and Dandy-Walker Variant in a young adult.
Related Concept Videos
01:33Pleiotropy
41.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.4K
03:14Notch Signaling Pathway
4.5K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.5K