Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2017, Article ID 9086408, 5 pages
Case Report

Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature

1Parkside Medical Group, 1310 San Bernardino Rd, Suite 102, Upland, CA 91786, USA
2Division of Laboratory Genetics, Department of Laboratory Medicine & Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA

Correspondence should be addressed to William S. Baek; moc.liamtoh@keab_s_mailliw

Received 8 February 2017; Revised 2 May 2017; Accepted 12 July 2017; Published 13 August 2017

Academic Editor: Balraj Mittal

Copyright © 2017 William S. Baek and Umut Aypar. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


A 5-year-old boy presented with mild autism and attention-deficit hyperactivity disorder (ADHD). Chromosomal microarray demonstrated a 1.7 Mb deletion at Xp22.31, which was consistent with X-linked ichthyosis (XLI). Further exam revealed dry, scaly skin on his abdomen and pretibial areas. Patients with mutations involving solely the STS gene or the recurrent ~2 Mb deletion may present with ADHD, whereas those with larger deletions including the NLGN4 gene can present with both ADHD and autism. However, our patient presented with mild autism in addition to ADHD despite having only the recurrent deletion without loss of NLGN4. Such neurological manifestations of XLI warrant attention as practical targets of clinical management.