Carotid artery occlusion in Kabuki syndrome: Case report and literature review

Abstract

Background:Kabuki syndrome is a rare multiple congenital anomaly syndrome whose main diagnostic findings are craniofacial phenotypic changes and mental retardation. Organic structural lesions in the central nervous system are rare, although have been described already. Systemic vascular changes have also been reported rarely.Case Description:We report the case of a young patient with Kabuki syndrome who had a transient ischemic attack due to dissection of the internal carotid artery and a likely gliosis area on the white matter.Conclusion:Association of cervical arterial disease with this syndrome has never been described, and its pathophysiology is not yet established; however, it can direct future research and maybe treatment.

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report

“…The central genes etiologically associated with this condition are KMT2D and KDM6A, which are involved in epigenetic regulation. 15 The patient in this case report had developmental delay and intellectual disability and exhibited a probably pathogenic KMT2D splice site variant (NM_003482.3: c.511-2A> T). This type of variant can produce various effects such as exon skipping, intron retention, transcribed non-coding sequences or non-transcribed coding sequences, resulting in partially or completely non-functional proteins.…”