Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature
Joint Authors
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-08-13
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Baek, William S.& Aypar, Umut. 2017. Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1145382
Modern Language Association (MLA)
Baek, William S.& Aypar, Umut. Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature. Case Reports in Genetics No. 2017 (2017), pp.1-5.
https://search.emarefa.net/detail/BIM-1145382
American Medical Association (AMA)
Baek, William S.& Aypar, Umut. Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1145382
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145382