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

@inproceedings{Baek2017NeurologicalMO,
  title={Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature},
  author={William S Baek and Umut Aypar},
  booktitle={Case reports in genetics},
  year={2017}
}
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… CONTINUE READING