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

• Main Authors: William S. Baek, Umut Aypar
• Format: Article
• Language: English
• Published: Hindawi Limited 2017-01-01
• Series: Case Reports in Genetics
• Online Access: http://dx.doi.org/10.1155/2017/9086408

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.